ClinVar Miner

List of variants reported as likely benign 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: 3114
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
NM_001032283.3(TMPO):c.565+2224A>G rs34983516 0.00098
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
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_003239.5(TGFB3):c.646+13T>C rs780891440 0.00076
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg) rs143565958 0.00074
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser) rs141387097 0.00068
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_001032283.3(TMPO):c.565+2149C>T rs34150443 0.00064
NM_003238.6(TGFB2):c.823A>G (p.Ser275Gly) rs139825195 0.00062
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580 0.00056
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491 0.00049
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_001999.4(FBN2):c.5675-8dup rs767398234 0.00044
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484 0.00042
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_001999.4(FBN2):c.209T>C (p.Val70Ala) rs144149249 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_001032283.3(TMPO):c.565+1750C>G rs142981381 0.00038
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr) rs186577030 0.00038
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231 0.00035
NM_001999.4(FBN2):c.6511+4C>T rs368610241 0.00035
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr) rs150934009 0.00035
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_001999.4(FBN2):c.3087C>T (p.Val1029=) rs777392642 0.00034
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419 0.00033
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627 0.00032
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582 0.00032
NM_003238.6(TGFB2):c.747A>G (p.Arg249=) rs147960792 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_001032283.3(TMPO):c.565+1493A>G rs141347778 0.00031
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr) rs149054177 0.00030
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
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_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821 0.00029
NM_003239.5(TGFB3):c.354C>T (p.Asn118=) rs145051522 0.00029
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser) rs148493036 0.00028
NM_000138.5(FBN1):c.2187A>C (p.Leu729=) rs61730055 0.00026
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999 0.00026
NM_003036.4(SKI):c.1302G>A (p.Pro434=) rs111459205 0.00026
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772 0.00026
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=) rs140178192 0.00025
NM_001032283.3(TMPO):c.565+1748T>A rs138388686 0.00025
NM_000138.5(FBN1):c.8445C>T (p.Leu2815=) rs142304692 0.00024
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890 0.00023
NM_003239.5(TGFB3):c.193G>A (p.Val65Ile) rs201059075 0.00023
NM_001032283.3(TMPO):c.252G>T (p.Ala84=) rs727504659 0.00022
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.5004C>T (p.Asn1668=) rs140012679 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=) rs137914321 0.00020
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_001999.4(FBN2):c.27C>G (p.Leu9=) rs369714882 0.00019
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala) rs747798210 0.00019
NM_000138.5(FBN1):c.228C>T (p.Gly76=) rs141651917 0.00018
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
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.6342A>C (p.Gly2114=) rs374705586 0.00017
NM_001999.4(FBN2):c.1466-4G>A rs371636769 0.00017
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379 0.00016
NM_001032283.3(TMPO):c.534T>C (p.Asn178=) rs200016687 0.00016
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980 0.00016
NM_003036.4(SKI):c.42C>T (p.His14=) rs543603037 0.00016
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 0.00016
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=) rs375141964 0.00015
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.3964+19A>G rs181287036 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000138.5(FBN1):c.736+9G>A rs368241741 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_001032283.3(TMPO):c.565+1469A>G rs147812883 0.00014
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281 0.00014
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507 0.00014
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00014
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824 0.00014
NM_001999.4(FBN2):c.7841-17C>T rs371643668 0.00014
NM_003238.6(TGFB2):c.347-14C>G rs371982231 0.00014
NM_000138.5(FBN1):c.4748-12T>A rs368723745 0.00013
NM_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_001999.4(FBN2):c.2469C>T (p.Asn823=) rs770997817 0.00012
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.2990-14C>T rs377500777 0.00012
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142 0.00012
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu) rs141707850 0.00012
NM_001999.4(FBN2):c.8192+8G>A rs184132548 0.00012
NM_003036.4(SKI):c.1315G>A (p.Val439Ile) rs575093513 0.00012
NM_003238.6(TGFB2):c.648G>A (p.Arg216=) rs767503001 0.00012
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.1838-6C>T rs374629233 0.00011
NM_000138.5(FBN1):c.2289C>T (p.Cys763=) rs181311020 0.00011
NM_000138.5(FBN1):c.3964+12C>T rs371986991 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419 0.00011
NM_001999.4(FBN2):c.2989+20G>A rs374450061 0.00011
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=) rs138665246 0.00011
NM_003036.4(SKI):c.105G>A (p.Pro35=) rs778180778 0.00011
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
NM_003036.4(SKI):c.1329C>T (p.Pro443=) rs150033567 0.00011
NM_003036.4(SKI):c.1632C>T (p.His544=) rs373914574 0.00011
NM_003036.4(SKI):c.970-5C>T rs755318392 0.00011
NM_003238.6(TGFB2):c.297C>T (p.Tyr99=) rs760759052 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000138.5(FBN1):c.3082+9T>A rs746303949 0.00010
NM_001999.4(FBN2):c.2249-15C>A rs759195113 0.00010
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542 0.00010
NM_001999.4(FBN2):c.3472+17C>A rs747730357 0.00010
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met) rs2307109 0.00010
NM_001999.4(FBN2):c.8193-6A>G rs371741283 0.00010
NM_001999.4(FBN2):c.8691G>A (p.Gly2897=) rs184109554 0.00010
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257 0.00010
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_000138.5(FBN1):c.1588+20C>T rs376488308 0.00009
NM_000138.5(FBN1):c.2232G>C (p.Gly744=) rs762745991 0.00009
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn) rs371377334 0.00009
NM_000138.5(FBN1):c.5225-13T>G rs367786211 0.00009
NM_000138.5(FBN1):c.5296+12C>T rs566030960 0.00009
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=) rs532737688 0.00009
NM_000138.5(FBN1):c.942A>G (p.Lys314=) rs376965275 0.00009
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 0.00009
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val) rs144933639 0.00009
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356 0.00009
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098 0.00009
NM_001999.4(FBN2):c.5549-18G>A rs371995872 0.00009
NM_001999.4(FBN2):c.7497G>A (p.Pro2499=) rs756747736 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=) rs190292877 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_003036.4(SKI):c.1164G>A (p.Ala388=) rs780171614 0.00009
NM_003036.4(SKI):c.1269G>A (p.Pro423=) rs375600617 0.00009
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212 0.00009
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705 0.00009
NM_003239.5(TGFB3):c.558C>T (p.Ile186=) rs138389291 0.00009
NM_000138.5(FBN1):c.2079G>A (p.Gly693=) rs374174497 0.00008
NM_000138.5(FBN1):c.2928C>T (p.Arg976=) rs761997019 0.00008
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu) rs201156527 0.00008
NM_000138.5(FBN1):c.3429C>A (p.Gly1143=) rs151232024 0.00008
NM_000138.5(FBN1):c.5297-19A>G rs375665466 0.00008
NM_000138.5(FBN1):c.6038-15_6038-14del rs752198920 0.00008
NM_001032283.3(TMPO):c.565+2387G>A rs201034441 0.00008
NM_001999.4(FBN2):c.5637C>T (p.Ala1879=) rs367620361 0.00008
NM_001999.4(FBN2):c.6597A>G (p.Pro2199=) rs150305429 0.00008
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842 0.00008
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501 0.00008
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003036.4(SKI):c.170C>T (p.Ala57Val) rs1389185868 0.00008
NM_003239.5(TGFB3):c.101A>G (p.His34Arg) rs199791687 0.00008
NM_000138.5(FBN1):c.1327+12A>G rs764788168 0.00007
NM_000138.5(FBN1):c.1363T>C (p.Leu455=) rs557954342 0.00007
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile) rs142912485 0.00007
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=) rs397515832 0.00007
NM_000138.5(FBN1):c.6942C>T (p.Tyr2314=) rs372967546 0.00007
NM_001032283.3(TMPO):c.565+1472G>A rs375628010 0.00007
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg) rs745528502 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala) rs367614052 0.00007
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=) rs772465221 0.00007
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011 0.00007
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608 0.00007
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208 0.00007
NM_001999.4(FBN2):c.6512-7A>G rs201462445 0.00007
NM_001999.4(FBN2):c.8085C>T (p.Asp2695=) rs765452930 0.00007
NM_003238.6(TGFB2):c.217A>G (p.Ser73Gly) rs753391734 0.00007
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro) rs377722423 0.00006
NM_000138.5(FBN1):c.1961-14T>C rs373918202 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.273T>C (p.Asp91=) rs375450755 0.00006
NM_000138.5(FBN1):c.2793G>T (p.Gly931=) rs775785545 0.00006
NM_000138.5(FBN1):c.2835C>T (p.Ala945=) rs140389544 0.00006
NM_000138.5(FBN1):c.2901C>T (p.Cys967=) rs755610084 0.00006
NM_000138.5(FBN1):c.3082+13G>A rs757559866 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.4337-14T>C rs78068079 0.00006
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=) rs140628 0.00006
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=) rs753705796 0.00006
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=) rs141925790 0.00006
NM_000138.5(FBN1):c.5066-13dup rs774517414 0.00006
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=) rs368979510 0.00006
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe) rs758725993 0.00006
NM_000138.5(FBN1):c.6164-3C>T rs571365493 0.00006
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) rs200816828 0.00006
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=) rs397515839 0.00006
NM_000138.5(FBN1):c.7204+7C>G rs371763964 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000138.5(FBN1):c.988+20G>A rs375760654 0.00006
NM_001032283.3(TMPO):c.249C>T (p.Ala83=) rs747943302 0.00006
NM_001032283.3(TMPO):c.565+1709T>C rs374855899 0.00006
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His) rs1256710897 0.00006
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00006
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=) rs371640952 0.00006
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544 0.00006
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu) rs144505094 0.00006
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro) rs143195229 0.00006
NM_001999.4(FBN2):c.5423-8C>A rs1195073601 0.00006
NM_001999.4(FBN2):c.5853C>T (p.Thr1951=) rs377133710 0.00006
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535 0.00006
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu) rs766271753 0.00006
NM_001999.4(FBN2):c.7583A>G (p.Lys2528Arg) rs749623269 0.00006
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr) rs376736872 0.00006
NM_003036.4(SKI):c.1182C>T (p.Ser394=) rs542616415 0.00006
NM_003036.4(SKI):c.1211+10C>T rs200242660 0.00006
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu) rs764317955 0.00006
NM_003036.4(SKI):c.1710C>T (p.Arg570=) rs766067033 0.00006
NM_003036.4(SKI):c.1923G>A (p.Leu641=) rs199666240 0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003036.4(SKI):c.567G>C (p.Leu189=) rs752411031 0.00006
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=) rs201129153 0.00006
NM_003238.6(TGFB2):c.11G>A (p.Cys4Tyr) rs776628524 0.00006
NM_003238.6(TGFB2):c.644-4C>T rs11466408 0.00006
NM_003239.5(TGFB3):c.504C>T (p.Ile168=) rs148029842 0.00006
NM_003239.5(TGFB3):c.517-6C>G rs45586636 0.00006
NM_003239.5(TGFB3):c.96C>T (p.Phe32=) rs748977151 0.00006
NM_000138.5(FBN1):c.1147+7G>A rs373156788 0.00005
NM_000138.5(FBN1):c.1272A>G (p.Gln424=) rs763710172 0.00005
NM_000138.5(FBN1):c.2445T>G (p.Pro815=) rs368004231 0.00005
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.6699C>T (p.Pro2233=) rs372386014 0.00005
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000138.5(FBN1):c.7965G>A (p.Ala2655=) rs199887650 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) rs193922245 0.00005
NM_001032283.3(TMPO):c.13C>T (p.Leu5=) rs149067616 0.00005
NM_001032283.3(TMPO):c.565+1413A>G rs57670957 0.00005
NM_001999.4(FBN2):c.1078+9C>T rs371692018 0.00005
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554 0.00005
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met) rs150506063 0.00005
NM_001999.4(FBN2):c.3249G>T (p.Met1083Ile) rs146143173 0.00005
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209 0.00005
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=) rs774807410 0.00005
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994 0.00005
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=) rs753387547 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_001999.4(FBN2):c.5674+18T>G rs199749609 0.00005
NM_003036.4(SKI):c.1096-5G>A rs566936949 0.00005
NM_003036.4(SKI):c.1212-15C>T rs200904079 0.00005
NM_003036.4(SKI):c.1212-8C>T rs370921440 0.00005
NM_003036.4(SKI):c.1242C>T (p.Ala414=) rs757550300 0.00005
NM_003036.4(SKI):c.1263C>T (p.Leu421=) rs773045410 0.00005
NM_003036.4(SKI):c.450C>T (p.Cys150=) rs538703800 0.00005
NM_003238.6(TGFB2):c.1008C>T (p.His336=) rs886038528 0.00005
NM_000138.5(FBN1):c.1116C>T (p.Val372=) rs774193938 0.00004
NM_000138.5(FBN1):c.1242T>G (p.Pro414=) rs371929738 0.00004
NM_000138.5(FBN1):c.1290A>G (p.Pro430=) rs749526018 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1880G>A (p.Arg627His) rs746073643 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr) rs955639059 0.00004
NM_000138.5(FBN1):c.2168-19G>T rs777612162 0.00004
NM_000138.5(FBN1):c.2168-6G>A rs200924505 0.00004
NM_000138.5(FBN1):c.2419+13T>A rs372885314 0.00004
NM_000138.5(FBN1):c.2596A>G (p.Ile866Val) rs794728329 0.00004
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser) rs145464311 0.00004
NM_000138.5(FBN1):c.2637C>T (p.Leu879=) rs202163602 0.00004
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=) rs138855754 0.00004
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln) rs780972853 0.00004
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=) rs144339604 0.00004
NM_000138.5(FBN1):c.347-15T>C rs749417882 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.3838+20T>C rs772287702 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.405A>G (p.Leu135=) rs187254268 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.4336+7G>T rs760603409 0.00004
NM_000138.5(FBN1):c.4337-9C>T rs201001403 0.00004
NM_000138.5(FBN1):c.4371C>T (p.Val1457=) rs781641370 0.00004
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile) rs780957696 0.00004
NM_000138.5(FBN1):c.492T>C (p.Asn164=) rs778007582 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln) rs774798866 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val) rs766850261 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) rs363802 0.00004
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys) rs377149130 0.00004
NM_000138.5(FBN1):c.6497-11G>A rs183200505 0.00004
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn) rs530059069 0.00004
NM_000138.5(FBN1):c.7230C>T (p.His2410=) rs193922231 0.00004
NM_000138.5(FBN1):c.7700-13G>C rs775509707 0.00004
NM_000138.5(FBN1):c.7819+15C>T rs772164887 0.00004
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=) rs371285755 0.00004
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln) rs199846998 0.00004
NM_001032283.3(TMPO):c.270C>G (p.Ala90=) rs538702194 0.00004
NM_001032283.3(TMPO):c.280-8G>A rs943754313 0.00004
NM_001032283.3(TMPO):c.565+1277G>A rs766680788 0.00004
NM_001032283.3(TMPO):c.565+1304T>A rs142500409 0.00004
NM_001032283.3(TMPO):c.565+1574G>A rs756784841 0.00004
NM_001032283.3(TMPO):c.565+1958G>T rs143845319 0.00004
NM_001999.4(FBN2):c.1078+12A>C rs769211487 0.00004
NM_001999.4(FBN2):c.1140G>A (p.Pro380=) rs532059159 0.00004
NM_001999.4(FBN2):c.1195G>A (p.Gly399Arg) rs142228933 0.00004
NM_001999.4(FBN2):c.1968T>C (p.Cys656=) rs750685055 0.00004
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser) rs767317022 0.00004
NM_001999.4(FBN2):c.2358C>T (p.Asn786=) rs371981691 0.00004
NM_001999.4(FBN2):c.2555-6T>C rs376507178 0.00004
NM_001999.4(FBN2):c.2812+7G>A rs373320057 0.00004
NM_001999.4(FBN2):c.3393C>T (p.Cys1131=) rs760695805 0.00004
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser) rs775844150 0.00004
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met) rs368105987 0.00004
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556 0.00004
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978 0.00004
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His) rs139428175 0.00004
NM_001999.4(FBN2):c.4222+10C>A rs376700480 0.00004
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys) rs374493286 0.00004
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052 0.00004
NM_001999.4(FBN2):c.5200+11A>C rs863223545 0.00004
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser) rs750837082 0.00004
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=) rs751378266 0.00004
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944 0.00004
NM_001999.4(FBN2):c.6293-8T>A rs375682913 0.00004
NM_001999.4(FBN2):c.645G>A (p.Pro215=) rs764473594 0.00004
NM_001999.4(FBN2):c.704C>T (p.Thr235Met) rs367767903 0.00004
NM_001999.4(FBN2):c.7339G>A (p.Gly2447Arg) rs764998447 0.00004
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=) rs746265117 0.00004
NM_001999.4(FBN2):c.7878C>T (p.His2626=) rs587780943 0.00004
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu) rs746473847 0.00004
NM_001999.4(FBN2):c.8193-13T>C rs376023293 0.00004
NM_001999.4(FBN2):c.8193-19C>T rs771472324 0.00004
NM_001999.4(FBN2):c.8406C>T (p.Pro2802=) rs764836656 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val) rs863223615 0.00004
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn) rs747748647 0.00004
NM_003036.4(SKI):c.1080C>T (p.Ala360=) rs200557598 0.00004
NM_003036.4(SKI):c.1096-6C>T rs201304370 0.00004
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077 0.00004
NM_003036.4(SKI):c.1406C>T (p.Ala469Val) rs746659856 0.00004
NM_003036.4(SKI):c.1456G>A (p.Val486Ile) rs200717031 0.00004
NM_003036.4(SKI):c.1619C>T (p.Ala540Val) rs764786977 0.00004
NM_003036.4(SKI):c.1711G>A (p.Val571Met) rs190373826 0.00004
NM_003036.4(SKI):c.1767+12G>A rs772577806 0.00004
NM_003036.4(SKI):c.227T>C (p.Leu76Pro) rs753070477 0.00004
NM_003036.4(SKI):c.543C>T (p.Asp181=) rs766957830 0.00004
NM_003036.4(SKI):c.696G>A (p.Leu232=) rs748272908 0.00004
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600 0.00004
NM_003036.4(SKI):c.978T>G (p.Ser326=) rs759010691 0.00004
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=) rs142741166 0.00004
NM_003238.6(TGFB2):c.555C>T (p.Ile185=) rs760740958 0.00004
NM_003238.6(TGFB2):c.603C>T (p.Phe201=) rs377264861 0.00004
NM_003238.6(TGFB2):c.984G>A (p.Arg328=) rs147678881 0.00004
NM_003239.5(TGFB3):c.192C>T (p.His64=) rs374423962 0.00004
NM_003239.5(TGFB3):c.213C>T (p.Ala71=) rs753250192 0.00004
NM_003239.5(TGFB3):c.351C>T (p.His117=) rs375232060 0.00004
NM_003239.5(TGFB3):c.519C>T (p.Ile173=) rs754898843 0.00004
NM_003239.5(TGFB3):c.755-7T>G rs750868828 0.00004
NM_003239.5(TGFB3):c.926+17A>G rs374932970 0.00004
NM_000138.5(FBN1):c.1158C>T (p.Asn386=) rs368737502 0.00003
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.1747C>T (p.Leu583Phe) rs767293952 0.00003
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr) rs377621293 0.00003
NM_000138.5(FBN1):c.2142G>A (p.Gly714=) rs1423523072 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.2728+20A>C rs765993846 0.00003
NM_000138.5(FBN1):c.2729-8C>G rs775257418 0.00003
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly) rs754919275 0.00003
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=) rs757177349 0.00003
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=) rs149625173 0.00003
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val) rs756754760 0.00003
NM_000138.5(FBN1):c.378A>G (p.Gly126=) rs149611106 0.00003
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=) rs756186103 0.00003
NM_000138.5(FBN1):c.4337-5C>G rs370959127 0.00003
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=) rs756143911 0.00003
NM_000138.5(FBN1):c.442+15G>T rs369470506 0.00003
NM_000138.5(FBN1):c.442+19T>C rs757466131 0.00003
NM_000138.5(FBN1):c.4460-9C>T rs372753740 0.00003
NM_000138.5(FBN1):c.4583-11A>G rs780024463 0.00003
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=) rs933962712 0.00003
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=) rs761947423 0.00003
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=) rs747757998 0.00003
NM_000138.5(FBN1):c.5066-7C>G rs377369765 0.00003
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=) rs947248042 0.00003
NM_000138.5(FBN1):c.5671+7A>G rs751170564 0.00003
NM_000138.5(FBN1):c.5841C>T (p.Cys1947=) rs151181806 0.00003
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) rs375624881 0.00003
NM_000138.5(FBN1):c.6314-16A>G rs759468929 0.00003
NM_000138.5(FBN1):c.6314-17G>A rs370991477 0.00003
NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe) rs363816 0.00003
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=) rs774341590 0.00003
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=) rs182358927 0.00003
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=) rs764496589 0.00003
NM_000138.5(FBN1):c.7872C>T (p.Asn2624=) rs539185798 0.00003
NM_000138.5(FBN1):c.8069T>G (p.Met2690Arg) rs747476726 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=) rs771873118 0.00003
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=) rs374499193 0.00003
NM_001032283.3(TMPO):c.213C>G (p.Arg71=) rs910746839 0.00003
NM_001032283.3(TMPO):c.330A>G (p.Leu110=) rs776054749 0.00003
NM_001032283.3(TMPO):c.565+1287A>G rs534940271 0.00003
NM_001032283.3(TMPO):c.565+1301A>G rs375249647 0.00003
NM_001032283.3(TMPO):c.565+1616T>C rs147635314 0.00003
NM_001032283.3(TMPO):c.565+1982A>C rs766190912 0.00003
NM_001032283.3(TMPO):c.565+2504G>A rs145677259 0.00003
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp) rs762615993 0.00003
NM_001999.4(FBN2):c.1410C>A (p.Gly470=) rs750103822 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_001999.4(FBN2):c.186G>A (p.Glu62=) rs759839753 0.00003
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830 0.00003
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788 0.00003
NM_001999.4(FBN2):c.2634G>A (p.Ser878=) rs143905167 0.00003
NM_001999.4(FBN2):c.2674+10A>G rs371734006 0.00003
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=) rs142809999 0.00003
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=) rs374833053 0.00003
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys) rs746570981 0.00003
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu) rs142185964 0.00003
NM_001999.4(FBN2):c.3840G>A (p.Ser1280=) rs372613935 0.00003
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430 0.00003
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala) rs28763942 0.00003
NM_001999.4(FBN2):c.4290C>T (p.Gly1430=) rs773650336 0.00003
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=) rs144018137 0.00003
NM_001999.4(FBN2):c.4785C>T (p.Thr1595=) rs756084999 0.00003
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222 0.00003
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser) rs1085307788 0.00003
NM_001999.4(FBN2):c.5548+20T>C rs372334617 0.00003
NM_001999.4(FBN2):c.5567A>G (p.Asn1856Ser) rs780989245 0.00003
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr) rs546148828 0.00003
NM_001999.4(FBN2):c.6057G>A (p.Glu2019=) rs752114619 0.00003
NM_001999.4(FBN2):c.629-19T>C rs374428361 0.00003
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=) rs552637321 0.00003
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn) rs370650204 0.00003
NM_001999.4(FBN2):c.6909C>T (p.His2303=) rs762440824 0.00003
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln) rs370804151 0.00003
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=) rs751824761 0.00003
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120 0.00003
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=) rs145809024 0.00003
NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg) rs747305733 0.00003
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975 0.00003
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=) rs370851605 0.00003
NM_001999.4(FBN2):c.8192+7C>T rs376135657 0.00003
NM_001999.4(FBN2):c.81C>T (p.Ala27=) rs746484599 0.00003
NM_001999.4(FBN2):c.8253C>T (p.Val2751=) rs140631421 0.00003
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser) rs372206279 0.00003
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=) rs371397121 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) rs781069799 0.00003
NM_001999.4(FBN2):c.93G>T (p.Gln31His) rs371491169 0.00003
NM_003036.4(SKI):c.1187A>G (p.His396Arg) rs987527805 0.00003
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003036.4(SKI):c.1556G>A (p.Arg519His) rs376322470 0.00003
NM_003036.4(SKI):c.1866G>A (p.Glu622=) rs748886393 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_003036.4(SKI):c.1935G>T (p.Arg645=) rs751933078 0.00003
NM_003036.4(SKI):c.1999-19C>T rs1367620764 0.00003
NM_003036.4(SKI):c.2112G>A (p.Glu704=) rs1034542455 0.00003
NM_003036.4(SKI):c.2154G>T (p.Ala718=) rs778456446 0.00003
NM_003036.4(SKI):c.336C>T (p.Cys112=) rs752031916 0.00003
NM_003036.4(SKI):c.393G>A (p.Leu131=) rs748004059 0.00003
NM_003036.4(SKI):c.844C>A (p.Arg282=) rs753783431 0.00003
NM_003036.4(SKI):c.970-7A>G rs199634070 0.00003
NM_003238.6(TGFB2):c.330C>T (p.Pro110=) rs150348450 0.00003
NM_003238.6(TGFB2):c.745A>C (p.Arg249=) rs201845761 0.00003
NM_003239.5(TGFB3):c.1185C>T (p.Thr395=) rs753453972 0.00003
NM_003239.5(TGFB3):c.591C>T (p.Ala197=) rs375090568 0.00003
NM_003239.5(TGFB3):c.948T>C (p.Cys316=) rs1364994786 0.00003
NM_000138.5(FBN1):c.1147+20T>C rs746088095 0.00002
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn) rs749253325 0.00002
NM_000138.5(FBN1):c.1566A>G (p.Thr522=) rs531264662 0.00002
NM_000138.5(FBN1):c.164+9A>G rs773997652 0.00002
NM_000138.5(FBN1):c.1692A>T (p.Thr564=) rs1323581379 0.00002
NM_000138.5(FBN1):c.1961-7T>C rs878853675 0.00002
NM_000138.5(FBN1):c.19C>T (p.Leu7=) rs139161583 0.00002
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu) rs764827921 0.00002
NM_000138.5(FBN1):c.2154G>A (p.Thr718=) rs377033515 0.00002
NM_000138.5(FBN1):c.2419+7C>T rs773155136 0.00002
NM_000138.5(FBN1):c.2502T>A (p.Ser834=) rs754372754 0.00002
NM_000138.5(FBN1):c.2678-14G>A rs369475895 0.00002
NM_000138.5(FBN1):c.2855-10C>T rs1044021136 0.00002
NM_000138.5(FBN1):c.2878C>T (p.Leu960=) rs1469750878 0.00002
NM_000138.5(FBN1):c.2883G>T (p.Arg961Ser) rs142964120 0.00002
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val) rs766660415 0.00002
NM_000138.5(FBN1):c.2949C>T (p.Ser983=) rs769307676 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val) rs2229324 0.00002
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val) rs1183556572 0.00002
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln) rs768831064 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000138.5(FBN1):c.3453C>T (p.Ser1151=) rs748759748 0.00002
NM_000138.5(FBN1):c.3456G>A (p.Ala1152=) rs777442762 0.00002
NM_000138.5(FBN1):c.347-16C>G rs752093190 0.00002
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=) rs775417975 0.00002
NM_000138.5(FBN1):c.3777A>C (p.Gly1259=) rs1404903351 0.00002
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys) rs371103773 0.00002
NM_000138.5(FBN1):c.4026A>G (p.Thr1342=) rs752154066 0.00002
NM_000138.5(FBN1):c.4088-5A>G rs534913868 0.00002
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=) rs370494288 0.00002
NM_000138.5(FBN1):c.468T>C (p.Asn156=) rs757577615 0.00002
NM_000138.5(FBN1):c.4748-6C>T rs376611471 0.00002
NM_000138.5(FBN1):c.4842A>G (p.Pro1614=) rs779362502 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.5190C>T (p.Asn1730=) rs765997414 0.00002
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=) rs111756438 0.00002
NM_000138.5(FBN1):c.5423-5C>T rs368750818 0.00002
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser) rs745680336 0.00002
NM_000138.5(FBN1):c.5463C>T (p.Asn1821=) rs753966383 0.00002
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys) rs567397762 0.00002
NM_000138.5(FBN1):c.5918-12T>G rs751115639 0.00002
NM_000138.5(FBN1):c.6129G>C (p.Gly2043=) rs766473100 0.00002
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=) rs974604498 0.00002
NM_000138.5(FBN1):c.62C>T (p.Thr21Met) rs1489806847 0.00002
NM_000138.5(FBN1):c.6379+11T>C rs370322263 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=) rs147342485 0.00002
NM_000138.5(FBN1):c.6872-12A>G rs568325297 0.00002
NM_000138.5(FBN1):c.6998-7C>T rs764823572 0.00002
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn) rs775558051 0.00002
NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr) rs565474071 0.00002
NM_000138.5(FBN1):c.7454-6T>C rs1253572031 0.00002
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu) rs371110611 0.00002
NM_000138.5(FBN1):c.7524A>G (p.Thr2508=) rs201992942 0.00002
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=) rs759021474 0.00002
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=) rs758353830 0.00002
NM_000138.5(FBN1):c.7701C>T (p.Asp2567=) rs368054842 0.00002
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=) rs372105662 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 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.8533C>T (p.Leu2845=) rs767060377 0.00002
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro) rs149929989 0.00002
NM_001032283.3(TMPO):c.153G>A (p.Pro51=) rs755323971 0.00002
NM_001032283.3(TMPO):c.51G>A (p.Lys17=) rs766680931 0.00002
NM_001032283.3(TMPO):c.565+1232C>T rs369897433 0.00002
NM_001032283.3(TMPO):c.565+2150A>G rs200856956 0.00002
NM_001999.4(FBN2):c.1079-10A>G rs766920012 0.00002
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr) rs769840338 0.00002
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu) rs773011327 0.00002
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly) rs143515269 0.00002
NM_001999.4(FBN2):c.1410C>T (p.Gly470=) rs750103822 0.00002
NM_001999.4(FBN2):c.1422C>T (p.Ala474=) rs764073494 0.00002
NM_001999.4(FBN2):c.1434C>T (p.Ala478=) rs755786214 0.00002
NM_001999.4(FBN2):c.150T>C (p.Ala50=) rs543546489 0.00002
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln) rs748051713 0.00002
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val) rs886059902 0.00002
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp) rs371046485 0.00002
NM_001999.4(FBN2):c.1849+8A>G rs747219934 0.00002
NM_001999.4(FBN2):c.1911C>G (p.Gly637=) rs537558351 0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg) rs1204171410 0.00002
NM_001999.4(FBN2):c.2532G>A (p.Arg844=) rs369638207 0.00002
NM_001999.4(FBN2):c.255-15G>A rs587780942 0.00002
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser) rs555682061 0.00002
NM_001999.4(FBN2):c.2772C>T (p.Leu924=) rs773453872 0.00002
NM_001999.4(FBN2):c.2802G>A (p.Arg934=) rs140500093 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.2990-8C>T rs370825177 0.00002
NM_001999.4(FBN2):c.3041A>C (p.His1014Pro) rs551801199 0.00002
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val) rs754884110 0.00002
NM_001999.4(FBN2):c.3150G>A (p.Thr1050=) rs201631085 0.00002
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn) rs537477883 0.00002
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu) rs772041342 0.00002
NM_001999.4(FBN2):c.3432A>G (p.Glu1144=) rs757682009 0.00002
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly) rs770483769 0.00002
NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu) rs769665538 0.00002
NM_001999.4(FBN2):c.3993A>G (p.Leu1331=) rs141505866 0.00002
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val) rs776567929 0.00002
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu) rs778566871 0.00002
NM_001999.4(FBN2):c.4099+8T>C rs765204163 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.4497C>T (p.Asn1499=) rs368341114 0.00002
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=) rs780191346 0.00002
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847 0.00002
NM_001999.4(FBN2):c.4962C>T (p.Cys1654=) rs753935960 0.00002
NM_001999.4(FBN2):c.5097T>A (p.His1699Gln) rs757807339 0.00002
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys) rs759117573 0.00002
NM_001999.4(FBN2):c.533-6A>G rs56400997 0.00002
NM_001999.4(FBN2):c.5574T>C (p.Asp1858=) rs757483263 0.00002
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428 0.00002
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=) rs746592808 0.00002
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=) rs746307443 0.00002
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln) rs749907917 0.00002
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile) rs763393398 0.00002
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile) rs527609978 0.00002
NM_001999.4(FBN2):c.629-6T>C rs757696693 0.00002
NM_001999.4(FBN2):c.672G>T (p.Met224Ile) rs371292311 0.00002
NM_001999.4(FBN2):c.6881-5T>G rs772186151 0.00002
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser) rs751231315 0.00002
NM_001999.4(FBN2):c.6984C>T (p.Ala2328=) rs942158485 0.00002
NM_001999.4(FBN2):c.69G>T (p.Ala23=) rs774856011 0.00002
NM_001999.4(FBN2):c.6G>C (p.Gly2=) rs746567292 0.00002
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702 0.00002
NM_001999.4(FBN2):c.7138+10C>T rs1187342807 0.00002
NM_001999.4(FBN2):c.7213G>A (p.Val2405Ile) rs753865904 0.00002
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836 0.00002
NM_001999.4(FBN2):c.7389T>A (p.Gly2463=) rs749843181 0.00002
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser) rs562508529 0.00002
NM_001999.4(FBN2):c.7595-13T>C rs747620496 0.00002
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val) rs775848753 0.00002
NM_001999.4(FBN2):c.7960+13T>G rs1023942727 0.00002
NM_001999.4(FBN2):c.7961-10G>A rs752746367 0.00002
NM_001999.4(FBN2):c.8019G>C (p.Leu2673=) rs144013739 0.00002
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met) rs754475064 0.00002
NM_001999.4(FBN2):c.891C>A (p.Gly297=) rs539258943 0.00002
NM_003036.4(SKI):c.1034C>T (p.Ala345Val) rs201599402 0.00002
NM_003036.4(SKI):c.1059C>T (p.Ser353=) rs375991331 0.00002
NM_003036.4(SKI):c.1153G>A (p.Ala385Thr) rs758235470 0.00002
NM_003036.4(SKI):c.1211+17C>T rs753878221 0.00002
NM_003036.4(SKI):c.1382C>T (p.Thr461Ile) rs141464453 0.00002
NM_003036.4(SKI):c.1400C>T (p.Thr467Met) rs752151031 0.00002
NM_003036.4(SKI):c.1553C>T (p.Ala518Val) rs776056360 0.00002
NM_003036.4(SKI):c.1569G>A (p.Ser523=) rs767052019 0.00002
NM_003036.4(SKI):c.1596C>T (p.Ala532=) rs752673852 0.00002
NM_003036.4(SKI):c.1599C>T (p.Asp533=) rs758323266 0.00002
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser) rs1010245755 0.00002
NM_003036.4(SKI):c.1967C>T (p.Ala656Val) rs571976990 0.00002
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635 0.00002
NM_003036.4(SKI):c.209C>T (p.Pro70Leu) rs994969301 0.00002
NM_003036.4(SKI):c.2165G>A (p.Gly722Asp) rs1488554459 0.00002
NM_003036.4(SKI):c.762C>T (p.Tyr254=) rs56352201 0.00002
NM_003036.4(SKI):c.930A>G (p.Lys310=) rs751629802 0.00002
NM_003036.4(SKI):c.975C>T (p.Ser325=) rs753145672 0.00002
NM_003036.4(SKI):c.985C>T (p.Pro329Ser) rs770539313 0.00002
NM_003238.6(TGFB2):c.1087-13T>G rs374394434 0.00002
NM_003238.6(TGFB2):c.456T>C (p.Phe152=) rs372071268 0.00002
NM_003238.6(TGFB2):c.798T>A (p.Thr266=) rs376354795 0.00002
NM_003239.5(TGFB3):c.1134C>T (p.Cys378=) rs780993645 0.00002
NM_003239.5(TGFB3):c.324C>T (p.Phe108=) rs779502039 0.00002
NM_003239.5(TGFB3):c.693C>T (p.Thr231=) rs780510419 0.00002
NM_000138.5(FBN1):c.1026C>T (p.Asn342=) rs769282306 0.00001
NM_000138.5(FBN1):c.1086C>T (p.Ala362=) rs1338617046 0.00001
NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln) rs536588176 0.00001
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe) rs1191931914 0.00001
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr) rs766162654 0.00001
NM_000138.5(FBN1):c.1131T>C (p.Cys377=) rs769211348 0.00001
NM_000138.5(FBN1):c.1147+16G>A rs780632581 0.00001
NM_000138.5(FBN1):c.1167C>T (p.Cys389=) rs746201757 0.00001
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe) rs746385384 0.00001
NM_000138.5(FBN1):c.1215C>A (p.Pro405=) rs1213208601 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.1344C>T (p.Asn448=) rs1281826850 0.00001
NM_000138.5(FBN1):c.1368C>G (p.Val456=) rs1433264110 0.00001
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys) rs749133312 0.00001
NM_000138.5(FBN1):c.1407T>G (p.Pro469=) rs1016146856 0.00001
NM_000138.5(FBN1):c.1494C>T (p.Pro498=) rs765595961 0.00001
NM_000138.5(FBN1):c.1533C>T (p.Tyr511=) rs1060504146 0.00001
NM_000138.5(FBN1):c.1572G>A (p.Thr524=) rs1232119767 0.00001
NM_000138.5(FBN1):c.15T>C (p.Arg5=) rs1371787168 0.00001
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile) rs1485432119 0.00001
NM_000138.5(FBN1):c.1605A>G (p.Leu535=) rs778013543 0.00001
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val) rs759813328 0.00001
NM_000138.5(FBN1):c.164+12G>A rs571164659 0.00001
NM_000138.5(FBN1):c.164+18C>T rs772382145 0.00001
NM_000138.5(FBN1):c.1647A>T (p.Thr549=) rs2043746264 0.00001
NM_000138.5(FBN1):c.165-13G>A rs985235880 0.00001
NM_000138.5(FBN1):c.165-7G>A rs397515761 0.00001
NM_000138.5(FBN1):c.165-9T>C rs758117122 0.00001
NM_000138.5(FBN1):c.1653C>T (p.Gly551=) rs766565738 0.00001
NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln) rs763815231 0.00001
NM_000138.5(FBN1):c.1714+10G>A rs760474361 0.00001
NM_000138.5(FBN1):c.1715-12T>C rs1057521270 0.00001
NM_000138.5(FBN1):c.1715-14T>G rs753746089 0.00001
NM_000138.5(FBN1):c.1731C>T (p.Ser577=) rs1453708754 0.00001
NM_000138.5(FBN1):c.174C>A (p.Val58=) rs369096927 0.00001
NM_000138.5(FBN1):c.1776C>G (p.Gly592=) rs759191650 0.00001
NM_000138.5(FBN1):c.1779T>C (p.Ser593=) rs372195702 0.00001
NM_000138.5(FBN1):c.1837+10A>G rs2043731034 0.00001
NM_000138.5(FBN1):c.1838-7G>A rs772849691 0.00001
NM_000138.5(FBN1):c.1845C>T (p.Asn615=) rs932735615 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.1858C>T (p.Pro620Ser) rs1220853793 0.00001
NM_000138.5(FBN1):c.1960+17G>A rs749990136 0.00001
NM_000138.5(FBN1):c.2020T>C (p.Leu674=) rs753453348 0.00001
NM_000138.5(FBN1):c.2058C>A (p.Ala686=) rs759859967 0.00001
NM_000138.5(FBN1):c.207T>C (p.Pro69=) rs771057822 0.00001
NM_000138.5(FBN1):c.2082A>G (p.Glu694=) rs773288488 0.00001
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg) rs769708437 0.00001
NM_000138.5(FBN1):c.2113+13A>G rs755529582 0.00001
NM_000138.5(FBN1):c.2113+17A>G rs1246446564 0.00001
NM_000138.5(FBN1):c.2113+19A>T rs541501178 0.00001
NM_000138.5(FBN1):c.2113+8G>A rs763708195 0.00001
NM_000138.5(FBN1):c.2127A>C (p.Ala709=) rs886038990 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.2253T>C (p.Asn751=) rs1566912218 0.00001
NM_000138.5(FBN1):c.2293+16C>G rs772889439 0.00001
NM_000138.5(FBN1):c.2294-19A>C rs1353634853 0.00001
NM_000138.5(FBN1):c.2349T>C (p.Asn783=) rs1057522903 0.00001
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys) rs1064793112 0.00001
NM_000138.5(FBN1):c.2406A>G (p.Leu802=) rs1490836069 0.00001
NM_000138.5(FBN1):c.2433C>T (p.Cys811=) rs193921256 0.00001
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr) rs751564716 0.00001
NM_000138.5(FBN1):c.2540-7T>C rs749692510 0.00001
NM_000138.5(FBN1):c.2568T>G (p.Thr856=) rs781607814 0.00001
NM_000138.5(FBN1):c.2577T>C (p.Asp859=) rs779997664 0.00001
NM_000138.5(FBN1):c.2598C>T (p.Ile866=) rs752457534 0.00001
NM_000138.5(FBN1):c.261T>C (p.His87=) rs775220887 0.00001
NM_000138.5(FBN1):c.2628C>T (p.Cys876=) rs112085967 0.00001
NM_000138.5(FBN1):c.2634C>T (p.Ser878=) rs770395971 0.00001
NM_000138.5(FBN1):c.2640T>G (p.Gly880=) rs1597568836 0.00001
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) rs772308703 0.00001
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg) rs778951277 0.00001
NM_000138.5(FBN1):c.2748G>A (p.Val916=) rs1339922695 0.00001
NM_000138.5(FBN1):c.2771G>T (p.Gly924Val) rs1206476337 0.00001
NM_000138.5(FBN1):c.2855-4A>G rs769851513 0.00001
NM_000138.5(FBN1):c.285G>A (p.Ser95=) rs745596276 0.00001
NM_000138.5(FBN1):c.2883G>A (p.Arg961=) rs142964120 0.00001
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=) rs772108557 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.2991C>A (p.Pro997=) rs1225275544 0.00001
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=) rs764203356 0.00001
NM_000138.5(FBN1):c.3036C>T (p.Pro1012=) rs766194667 0.00001
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg) rs137854472 0.00001
NM_000138.5(FBN1):c.3209-6G>A rs942309418 0.00001
NM_000138.5(FBN1):c.3209-9T>C rs1188743312 0.00001
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=) rs767088495 0.00001
NM_000138.5(FBN1):c.3330C>T (p.Asn1110=) rs374584763 0.00001
NM_000138.5(FBN1):c.3337+20A>G rs757193641 0.00001
NM_000138.5(FBN1):c.3348G>A (p.Glu1116=) rs1183230087 0.00001
NM_000138.5(FBN1):c.3369A>G (p.Leu1123=) rs1245413946 0.00001
NM_000138.5(FBN1):c.3464-19C>G rs928322808 0.00001
NM_000138.5(FBN1):c.347-19C>A rs755487996 0.00001
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=) rs778312047 0.00001
NM_000138.5(FBN1):c.353A>G (p.His118Arg) rs765503809 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450 0.00001
NM_000138.5(FBN1):c.3654C>T (p.Ser1218=) rs760712674 0.00001
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu) rs775532488 0.00001
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu) rs759424465 0.00001
NM_000138.5(FBN1):c.3693T>C (p.Pro1231=) rs1364910158 0.00001
NM_000138.5(FBN1):c.3713-5T>C rs1412125032 0.00001
NM_000138.5(FBN1):c.3717C>T (p.Ile1239=) rs759387957 0.00001
NM_000138.5(FBN1):c.3762C>T (p.Cys1254=) rs1555398286 0.00001
NM_000138.5(FBN1):c.3834T>C (p.Cys1278=) rs886039492 0.00001
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser) rs140647 0.00001
NM_000138.5(FBN1):c.3897G>A (p.Thr1299=) rs771283158 0.00001
NM_000138.5(FBN1):c.393C>T (p.Asp131=) rs549054625 0.00001
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=) rs766969494 0.00001
NM_000138.5(FBN1):c.4059G>T (p.Gly1353=) rs886038250 0.00001
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val) rs202192505 0.00001
NM_000138.5(FBN1):c.4089T>C (p.Asp1363=) rs751099175 0.00001
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser) rs370923981 0.00001
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=) rs1332403498 0.00001
NM_000138.5(FBN1):c.4170G>A (p.Leu1390=) rs1229052328 0.00001
NM_000138.5(FBN1):c.4211-18G>A rs532573637 0.00001
NM_000138.5(FBN1):c.4218T>C (p.Asp1406=) rs759712586 0.00001
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser) rs768531262 0.00001
NM_000138.5(FBN1):c.4251T>C (p.Asn1417=) rs1428390270 0.00001
NM_000138.5(FBN1):c.426G>A (p.Gly142=) rs1391070461 0.00001
NM_000138.5(FBN1):c.4272A>G (p.Pro1424=) rs1187173937 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4320C>T (p.Asp1440=) rs375157552 0.00001
NM_000138.5(FBN1):c.4336+10G>C rs1475499953 0.00001
NM_000138.5(FBN1):c.4337-6C>G rs1225924246 0.00001
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=) rs748551052 0.00001
NM_000138.5(FBN1):c.4401G>T (p.Leu1467=) rs747377334 0.00001
NM_000138.5(FBN1):c.442+17T>A rs779385878 0.00001
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=) rs767462642 0.00001
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=) rs772727859 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=) rs776021250 0.00001
NM_000138.5(FBN1):c.4583-5A>C rs778966916 0.00001
NM_000138.5(FBN1):c.465C>A (p.Leu155=) rs1287033860 0.00001
NM_000138.5(FBN1):c.4695T>A (p.Ser1565=) rs1891548285 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val) rs772009116 0.00001
NM_000138.5(FBN1):c.4747+7G>A rs967122284 0.00001
NM_000138.5(FBN1):c.4748-9T>C rs760640909 0.00001
NM_000138.5(FBN1):c.4817-10A>G rs368644662 0.00001
NM_000138.5(FBN1):c.4824T>C (p.Asp1608=) rs1057521341 0.00001
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His) rs756227025 0.00001
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=) rs140629 0.00001
NM_000138.5(FBN1):c.5007C>T (p.Asn1669=) rs1267512714 0.00001
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile) rs368287795 0.00001
NM_000138.5(FBN1):c.5184G>A (p.Ala1728=) rs754660497 0.00001
NM_000138.5(FBN1):c.5225-19C>T rs375761937 0.00001
NM_000138.5(FBN1):c.5225-7A>G rs761196321 0.00001
NM_000138.5(FBN1):c.5268C>A (p.Val1756=) rs764685311 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.5296+13G>A rs781168268 0.00001
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln) rs759791896 0.00001
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=) rs766501385 0.00001
NM_000138.5(FBN1):c.5423-15C>A rs1426894149 0.00001
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=) rs765338162 0.00001
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser) rs775463311 0.00001
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=) rs1261752884 0.00001
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=) rs372767912 0.00001
NM_000138.5(FBN1):c.5545+10G>C rs1231571005 0.00001
NM_000138.5(FBN1):c.5546-4A>C rs919423974 0.00001
NM_000138.5(FBN1):c.5585A>G (p.His1862Arg) rs976161721 0.00001
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val) rs367586350 0.00001
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile) rs145082616 0.00001
NM_000138.5(FBN1):c.5671+11_5671+13dup rs779987733 0.00001
NM_000138.5(FBN1):c.573C>T (p.Ser191=) rs749627551 0.00001
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg) rs993464239 0.00001
NM_000138.5(FBN1):c.5805A>C (p.Ala1935=) rs755825254 0.00001
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=) rs767097888 0.00001
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser) rs773486280 0.00001
NM_000138.5(FBN1):c.5991A>G (p.Arg1997=) rs201346996 0.00001
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) rs773204216 0.00001
NM_000138.5(FBN1):c.6038-18C>T rs767567399 0.00001
NM_000138.5(FBN1):c.6099A>G (p.Glu2033=) rs1397665480 0.00001
NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg) rs556131403 0.00001
NM_000138.5(FBN1):c.6147T>C (p.Ser2049=) rs553959381 0.00001
NM_000138.5(FBN1):c.6163+9C>G rs547396976 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000138.5(FBN1):c.6231T>C (p.Asn2077=) rs2043085335 0.00001
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=) rs1478813051 0.00001
NM_000138.5(FBN1):c.6336T>C (p.Pro2112=) rs772876451 0.00001
NM_000138.5(FBN1):c.6379+17G>A rs1432052846 0.00001
NM_000138.5(FBN1):c.6380-19T>A rs764874493 0.00001
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00001
NM_000138.5(FBN1):c.6402C>T (p.Pro2134=) rs772439885 0.00001
NM_000138.5(FBN1):c.6417T>C (p.His2139=) rs551162566 0.00001
NM_000138.5(FBN1):c.6438T>C (p.Asp2146=) rs1398482166 0.00001
NM_000138.5(FBN1):c.6497-12G>C rs369726558 0.00001
NM_000138.5(FBN1):c.654C>G (p.Gly218=) rs375181377 0.00001
NM_000138.5(FBN1):c.6609A>G (p.Thr2203=) rs547573220 0.00001
NM_000138.5(FBN1):c.6616+8T>A rs371898247 0.00001
NM_000138.5(FBN1):c.6617-11C>A rs932325724 0.00001
NM_000138.5(FBN1):c.6675T>C (p.Tyr2225=) rs1260533788 0.00001
NM_000138.5(FBN1):c.6709G>A (p.Val2237Met) rs764218640 0.00001
NM_000138.5(FBN1):c.6739+10C>T rs1179540326 0.00001
NM_000138.5(FBN1):c.6768T>C (p.His2256=) rs1047633779 0.00001
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn) rs771716423 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.6859G>C (p.Glu2287Gln) rs551736585 0.00001
NM_000138.5(FBN1):c.6871+12C>A rs770526904 0.00001
NM_000138.5(FBN1):c.6891G>A (p.Thr2297=) rs764092264 0.00001
NM_000138.5(FBN1):c.6969C>T (p.Thr2323=) rs773655866 0.00001
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=) rs397515843 0.00001
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=) rs1597517953 0.00001
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln) rs199750146 0.00001
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val) rs774698871 0.00001
NM_000138.5(FBN1):c.7196A>G (p.Asn2399Ser) rs1428791574 0.00001
NM_000138.5(FBN1):c.7204+6T>G rs534417939 0.00001
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=) rs767903343 0.00001
NM_000138.5(FBN1):c.7257C>T (p.Val2419=) rs745715311 0.00001
NM_000138.5(FBN1):c.7272A>G (p.Ser2424=) rs1259699671 0.00001
NM_000138.5(FBN1):c.7317G>C (p.Gly2439=) rs766871786 0.00001
NM_000138.5(FBN1):c.7330+10T>G rs375569743 0.00001
NM_000138.5(FBN1):c.7330+4A>G rs750677373 0.00001
NM_000138.5(FBN1):c.7330+7G>A rs765544479 0.00001
NM_000138.5(FBN1):c.7335G>T (p.Leu2445=) rs754460527 0.00001
NM_000138.5(FBN1):c.736+10G>T rs1183919688 0.00001
NM_000138.5(FBN1):c.736+8C>T rs753703175 0.00001
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=) rs769588855 0.00001
NM_000138.5(FBN1):c.7521C>T (p.Phe2507=) rs111895751 0.00001
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg) rs767602851 0.00001
NM_000138.5(FBN1):c.7539C>T (p.Pro2513=) rs144713268 0.00001
NM_000138.5(FBN1):c.756C>T (p.Ala252=) rs1398534692 0.00001
NM_000138.5(FBN1):c.7570+8G>A rs1215672755 0.00001
NM_000138.5(FBN1):c.7570+9G>A rs745370940 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.759C>T (p.Ile253=) rs1403909880 0.00001
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=) rs1392530685 0.00001
NM_000138.5(FBN1):c.7605C>T (p.Cys2535=) rs113544411 0.00001
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=) rs1388794275 0.00001
NM_000138.5(FBN1):c.762C>T (p.Pro254=) rs374318726 0.00001
NM_000138.5(FBN1):c.7632T>C (p.Thr2544=) rs1409771185 0.00001
NM_000138.5(FBN1):c.7647C>T (p.Thr2549=) rs1184032259 0.00001
NM_000138.5(FBN1):c.7700-20T>C rs747269059 0.00001
NM_000138.5(FBN1):c.7707C>T (p.Asp2569=) rs756093148 0.00001
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=) rs764526450 0.00001
NM_000138.5(FBN1):c.7819+9C>T rs971180549 0.00001
NM_000138.5(FBN1):c.7836C>T (p.Leu2612=) rs756689495 0.00001
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=) rs193922238 0.00001
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met) rs138184493 0.00001
NM_000138.5(FBN1):c.7875C>T (p.Thr2625=) rs1344417150 0.00001
NM_000138.5(FBN1):c.7929T>C (p.Ser2643=) rs745524158 0.00001
NM_000138.5(FBN1):c.7968G>A (p.Gln2656=) rs753203216 0.00001
NM_000138.5(FBN1):c.7971C>A (p.Ala2657=) rs2042897134 0.00001
NM_000138.5(FBN1):c.7998C>T (p.Thr2666=) rs1374170310 0.00001
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser) rs745650955 0.00001
NM_000138.5(FBN1):c.8049A>G (p.Gln2683=) rs1208510012 0.00001
NM_000138.5(FBN1):c.8051+20G>T rs781718760 0.00001
NM_000138.5(FBN1):c.8051+7A>G rs755589553 0.00001
NM_000138.5(FBN1):c.8052-20A>G rs939834412 0.00001
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser) rs759494825 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.8199A>T (p.Thr2733=) rs1372383251 0.00001
NM_000138.5(FBN1):c.8223C>T (p.Ile2741=) rs150065311 0.00001
NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val) rs775172479 0.00001
NM_000138.5(FBN1):c.8295T>A (p.Ala2765=) rs1417594908 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.8466A>G (p.Pro2822=) rs147279938 0.00001
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly) rs376933421 0.00001
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) rs371939796 0.00001
NM_000138.5(FBN1):c.855A>G (p.Lys285=) rs1272913373 0.00001
NM_000138.5(FBN1):c.8598C>A (p.Ile2866=) rs1566888537 0.00001
NM_000138.5(FBN1):c.876C>T (p.Cys292=) rs1286340387 0.00001
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) rs371130701 0.00001
NM_000138.5(FBN1):c.921A>C (p.Thr307=) rs1341105449 0.00001
NM_000138.5(FBN1):c.963C>T (p.Thr321=) rs767914958 0.00001
NM_000138.5(FBN1):c.969A>G (p.Pro323=) rs759743242 0.00001
NM_000138.5(FBN1):c.988+17A>G rs778476790 0.00001
NM_000138.5(FBN1):c.989-10T>C rs774104217 0.00001
NM_000138.5(FBN1):c.989-18G>A rs759275834 0.00001
NM_001032283.3(TMPO):c.183G>A (p.Gly61=) rs780119963 0.00001
NM_001032283.3(TMPO):c.219C>G (p.Pro73=) rs1464689689 0.00001
NM_001032283.3(TMPO):c.228C>T (p.Val76=) rs760772599 0.00001
NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg) rs780142223 0.00001
NM_001032283.3(TMPO):c.279+11G>C rs772520813 0.00001
NM_001032283.3(TMPO):c.328C>T (p.Leu110=) rs1302280025 0.00001
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser) rs200923649 0.00001
NM_001032283.3(TMPO):c.565+1103C>T rs188308994 0.00001
NM_001032283.3(TMPO):c.565+1346T>G rs774747367 0.00001
NM_001032283.3(TMPO):c.565+1409C>T rs371441559 0.00001
NM_001032283.3(TMPO):c.565+1468A>G rs202106275 0.00001
NM_001032283.3(TMPO):c.565+1499A>G rs776923796 0.00001
NM_001032283.3(TMPO):c.565+1532G>A rs1336852045 0.00001
NM_001032283.3(TMPO):c.565+1559T>C rs760459470 0.00001
NM_001032283.3(TMPO):c.565+1907A>G rs372248802 0.00001
NM_001032283.3(TMPO):c.565+1979T>C rs777452560 0.00001
NM_001032283.3(TMPO):c.565+1997G>A rs375056835 0.00001
NM_001032283.3(TMPO):c.565+2081A>G rs760171602 0.00001
NM_001032283.3(TMPO):c.565+2273G>A rs977042843 0.00001
NM_001032283.3(TMPO):c.565+2399T>A rs576517565 0.00001
NM_001032283.3(TMPO):c.565+8T>C rs545742855 0.00001
NM_001032283.3(TMPO):c.72T>C (p.Asn24=) rs201960762 0.00001
NM_001032283.3(TMPO):c.84G>A (p.Pro28=) rs199549942 0.00001
NM_001999.4(FBN2):c.1011C>T (p.Thr337=) rs781086796 0.00001
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly) rs761066631 0.00001
NM_001999.4(FBN2):c.1070G>A (p.Arg357Gln) rs773969876 0.00001
NM_001999.4(FBN2):c.1079-14T>G rs754310681 0.00001
NM_001999.4(FBN2):c.1143G>T (p.Gly381=) rs749428195 0.00001
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met) rs371826887 0.00001
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly) rs763202121 0.00001
NM_001999.4(FBN2):c.1260A>C (p.Gly420=) rs766241911 0.00001
NM_001999.4(FBN2):c.126G>A (p.Pro42=) rs771657289 0.00001
NM_001999.4(FBN2):c.1338C>G (p.Gly446=) rs1060504933 0.00001
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp) rs748584140 0.00001
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050 0.00001
NM_001999.4(FBN2):c.1603+7T>C rs1477450908 0.00001
NM_001999.4(FBN2):c.1671T>C (p.Tyr557=) rs1487989552 0.00001
NM_001999.4(FBN2):c.1716A>G (p.Ala572=) rs771782180 0.00001
NM_001999.4(FBN2):c.1724-6T>C rs1259657269 0.00001
NM_001999.4(FBN2):c.1774G>T (p.Val592Leu) rs762427107 0.00001
NM_001999.4(FBN2):c.1776G>A (p.Val592=) rs775492838 0.00001
NM_001999.4(FBN2):c.1842C>T (p.Asn614=) rs968593645 0.00001
NM_001999.4(FBN2):c.1866A>G (p.Thr622=) rs1060504934 0.00001
NM_001999.4(FBN2):c.1884G>A (p.Leu628=) rs1237327921 0.00001
NM_001999.4(FBN2):c.1902T>C (p.Asn634=) rs553052214 0.00001
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668 0.00001
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys) rs750406193 0.00001
NM_001999.4(FBN2):c.2043C>T (p.Arg681=) rs1476851135 0.00001
NM_001999.4(FBN2):c.2084G>A (p.Arg695His) rs143722436 0.00001
NM_001999.4(FBN2):c.2096-13del rs746826953 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.2160C>T (p.Pro720=) rs889188442 0.00001
NM_001999.4(FBN2):c.2202C>T (p.Asp734=) rs1057470455 0.00001
NM_001999.4(FBN2):c.220G>A (p.Val74Ile) rs779812100 0.00001
NM_001999.4(FBN2):c.2259C>T (p.His753=) rs1751768248 0.00001
NM_001999.4(FBN2):c.2283T>C (p.Gly761=) rs1235214641 0.00001
NM_001999.4(FBN2):c.2428+9T>C rs368374358 0.00001
NM_001999.4(FBN2):c.2487G>T (p.Thr829=) rs779455710 0.00001
NM_001999.4(FBN2):c.2511C>T (p.Cys837=) rs756813212 0.00001
NM_001999.4(FBN2):c.2554+18C>T rs778973357 0.00001
NM_001999.4(FBN2):c.2554+19G>A rs199897237 0.00001
NM_001999.4(FBN2):c.258C>T (p.Pro86=) rs780509984 0.00001
NM_001999.4(FBN2):c.2661A>G (p.Gly887=) rs774598529 0.00001
NM_001999.4(FBN2):c.2675-8C>G rs1451128883 0.00001
NM_001999.4(FBN2):c.2715C>T (p.Ser905=) rs998086640 0.00001
NM_001999.4(FBN2):c.2740G>A (p.Ala914Thr) rs370312107 0.00001
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp) rs138429045 0.00001
NM_001999.4(FBN2):c.2813-12T>C rs1395669341 0.00001
NM_001999.4(FBN2):c.2864-12A>G rs1234935460 0.00001
NM_001999.4(FBN2):c.2874G>A (p.Glu958=) rs765859878 0.00001
NM_001999.4(FBN2):c.294C>T (p.Cys98=) rs765214316 0.00001
NM_001999.4(FBN2):c.2989+18A>T rs769856454 0.00001
NM_001999.4(FBN2):c.2990-13G>A rs375326505 0.00001
NM_001999.4(FBN2):c.3054A>G (p.Gly1018=) rs1255532545 0.00001
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys) rs773473369 0.00001
NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp) rs199938409 0.00001
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys) rs771853346 0.00001
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro) rs863223562 0.00001
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val) rs747248488 0.00001
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg) rs758659538 0.00001
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr) rs765437414 0.00001
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607 0.00001
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=) rs756541654 0.00001
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp) rs771385579 0.00001
NM_001999.4(FBN2):c.3567C>T (p.His1189=) rs945523399 0.00001
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=) rs941219425 0.00001
NM_001999.4(FBN2):c.3614C>T (p.Ser1205Phe) rs1389689622 0.00001
NM_001999.4(FBN2):c.3630C>G (p.Leu1210=) rs764902856 0.00001
NM_001999.4(FBN2):c.3675C>T (p.Cys1225=) rs141485941 0.00001
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=) rs750559514 0.00001
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe) rs1263059454 0.00001
NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser) rs755489065 0.00001
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys) rs922751471 0.00001
NM_001999.4(FBN2):c.3984A>G (p.Glu1328=) rs1394998823 0.00001
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg) rs1039821634 0.00001
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=) rs775405425 0.00001
NM_001999.4(FBN2):c.413C>T (p.Ser138Leu) rs149305476 0.00001
NM_001999.4(FBN2):c.4208G>A (p.Gly1403Asp) rs750327890 0.00001
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn) rs367961012 0.00001
NM_001999.4(FBN2):c.4287G>A (p.Pro1429=) rs761049150 0.00001
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=) rs147046215 0.00001
NM_001999.4(FBN2):c.42G>T (p.Leu14=) rs376407285 0.00001
NM_001999.4(FBN2):c.432A>G (p.Lys144=) rs201247200 0.00001
NM_001999.4(FBN2):c.4346-6G>T rs755217606 0.00001
NM_001999.4(FBN2):c.4406C>T (p.Pro1469Leu) rs770606176 0.00001
NM_001999.4(FBN2):c.4419C>T (p.Arg1473=) rs1750619535 0.00001
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=) rs751938197 0.00001
NM_001999.4(FBN2):c.4595-19T>C rs201459526 0.00001
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=) rs1176811808 0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504 0.00001
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala) rs139830237 0.00001
NM_001999.4(FBN2):c.4879+7A>G rs555328744 0.00001
NM_001999.4(FBN2):c.488A>G (p.His163Arg) rs1029299660 0.00001
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=) rs1488160637 0.00001
NM_001999.4(FBN2):c.4949-5T>C rs1264068007 0.00001
NM_001999.4(FBN2):c.5074+7T>C rs201951284 0.00001
NM_001999.4(FBN2):c.5075-4C>G rs779999668 0.00001
NM_001999.4(FBN2):c.522T>C (p.Tyr174=) rs573915338 0.00001
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931 0.00001
NM_001999.4(FBN2):c.5295A>C (p.Thr1765=) rs941916367 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_001999.4(FBN2):c.533-4G>T rs372596001 0.00001
NM_001999.4(FBN2):c.5353+20A>G rs759401474 0.00001
NM_001999.4(FBN2):c.5354-14T>C rs756825167 0.00001
NM_001999.4(FBN2):c.5427T>C (p.Ile1809=) rs756365546 0.00001
NM_001999.4(FBN2):c.5539G>C (p.Val1847Leu) rs863223610 0.00001
NM_001999.4(FBN2):c.5549-8T>A rs1339062362 0.00001
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp) rs1192632165 0.00001
NM_001999.4(FBN2):c.559G>A (p.Gly187Ser) rs773732645 0.00001
NM_001999.4(FBN2):c.5639C>T (p.Ala1880Val) rs779567163 0.00001
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser) rs745759959 0.00001
NM_001999.4(FBN2):c.5682T>C (p.Asn1894=) rs991908659 0.00001
NM_001999.4(FBN2):c.5731C>T (p.Leu1911=) rs768733086 0.00001
NM_001999.4(FBN2):c.573C>T (p.Ile191=) rs370698125 0.00001
NM_001999.4(FBN2):c.5800+10G>A rs546373462 0.00001
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr) rs369652475 0.00001
NM_001999.4(FBN2):c.5918-4A>G rs1382347293 0.00001
NM_001999.4(FBN2):c.5918-7C>G rs750463932 0.00001
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys) rs758369648 0.00001
NM_001999.4(FBN2):c.6027A>G (p.Pro2009=) rs147474868 0.00001
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=) rs749647897 0.00001
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=) rs1131691293 0.00001
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu) rs1295335940 0.00001
NM_001999.4(FBN2):c.6292+7T>C rs775471488 0.00001
NM_001999.4(FBN2):c.6306C>T (p.Ser2102=) rs374717631 0.00001
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233 0.00001
NM_001999.4(FBN2):c.6445+10A>G rs774706397 0.00001
NM_001999.4(FBN2):c.6445+11T>C rs766726816 0.00001
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=) rs1199375914 0.00001
NM_001999.4(FBN2):c.6477T>C (p.His2159=) rs768972914 0.00001
NM_001999.4(FBN2):c.6511+7T>C rs1201683263 0.00001
NM_001999.4(FBN2):c.6512-14G>A rs765303543 0.00001
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser) rs143054385 0.00001
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His) rs144887443 0.00001
NM_001999.4(FBN2):c.6610C>G (p.Leu2204Val) rs201541140 0.00001
NM_001999.4(FBN2):c.6611T>C (p.Leu2204Pro) rs772480416 0.00001
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His) rs745396297 0.00001
NM_001999.4(FBN2):c.6637+18A>G rs777841785 0.00001
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser) rs863223582 0.00001
NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu) rs747908706 0.00001
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=) rs754724355 0.00001
NM_001999.4(FBN2):c.6758-14A>G rs757283004 0.00001
NM_001999.4(FBN2):c.6795T>C (p.Ala2265=) rs753071532 0.00001
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu) rs760247833 0.00001
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=) rs374853253 0.00001
NM_001999.4(FBN2):c.6881-8T>G rs1355994517 0.00001
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val) rs756798856 0.00001
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile) rs780214155 0.00001
NM_001999.4(FBN2):c.6996T>C (p.Asp2332=) rs753673393 0.00001
NM_001999.4(FBN2):c.7007G>A (p.Cys2336Tyr) rs760494751 0.00001
NM_001999.4(FBN2):c.7013-18T>C rs375140877 0.00001
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys) rs863223586 0.00001
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979 0.00001
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys) rs762730300 0.00001
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu) rs755134019 0.00001
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=) rs1005611432 0.00001
NM_001999.4(FBN2):c.7317T>C (p.His2439=) rs1554117089 0.00001
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile) rs201883128 0.00001
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546 0.00001
NM_001999.4(FBN2):c.7472-14T>A rs772646837 0.00001
NM_001999.4(FBN2):c.7472-17A>G rs773888786 0.00001
NM_001999.4(FBN2):c.7524C>T (p.Asn2508=) rs1765389228 0.00001
NM_001999.4(FBN2):c.7595-8A>G rs878854479 0.00001
NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu) rs1473525001 0.00001
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=) rs763586091 0.00001
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu) rs770193908 0.00001
NM_001999.4(FBN2):c.767C>T (p.Ala256Val) rs1345155944 0.00001
NM_001999.4(FBN2):c.7720G>A (p.Glu2574Lys) rs377689621 0.00001
NM_001999.4(FBN2):c.7740G>A (p.Ser2580=) rs942206547 0.00001
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe) rs146316163 0.00001
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=) rs777828326 0.00001
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala) rs774323549 0.00001
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp) rs151329128 0.00001
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542 0.00001
NM_001999.4(FBN2):c.7960+20A>G rs761551216 0.00001
NM_001999.4(FBN2):c.7961-11C>T rs751924753 0.00001
NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu) rs370250073 0.00001
NM_001999.4(FBN2):c.8125G>A (p.Gly2709Ser) rs145809527 0.00001
NM_001999.4(FBN2):c.8193-7C>G rs754837805 0.00001
NM_001999.4(FBN2):c.8196C>T (p.His2732=) rs780426123 0.00001
NM_001999.4(FBN2):c.827-19A>G rs199559284 0.00001
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His) rs1262933234 0.00001
NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr) rs745600341 0.00001
NM_001999.4(FBN2):c.8365-5T>C rs1237152538 0.00001
NM_001999.4(FBN2):c.8365-7C>A rs1185451078 0.00001
NM_001999.4(FBN2):c.8413A>G (p.Met2805Val) rs776610785 0.00001
NM_001999.4(FBN2):c.8417A>T (p.Lys2806Met) rs565816741 0.00001
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg) rs772928933 0.00001
NM_001999.4(FBN2):c.8574G>A (p.Thr2858=) rs573245869 0.00001
NM_001999.4(FBN2):c.8705C>A (p.Ala2902Asp) rs757052151 0.00001
NM_001999.4(FBN2):c.885A>G (p.Thr295=) rs989219711 0.00001
NM_001999.4(FBN2):c.951A>G (p.Glu317=) rs1326391832 0.00001
NM_001999.4(FBN2):c.953-9C>T rs1181205032 0.00001
NM_003036.4(SKI):c.1005A>G (p.Lys335=) rs1057524639 0.00001
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.1152C>T (p.Pro384=) rs200160702 0.00001
NM_003036.4(SKI):c.1188C>T (p.His396=) rs998931386 0.00001
NM_003036.4(SKI):c.1212-13C>G rs754988590 0.00001
NM_003036.4(SKI):c.129G>A (p.Ala43=) rs1313492083 0.00001
NM_003036.4(SKI):c.1314C>T (p.Ala438=) rs554715623 0.00001
NM_003036.4(SKI):c.1317C>T (p.Val439=) rs1446526482 0.00001
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr) rs1325458157 0.00001
NM_003036.4(SKI):c.1411G>T (p.Val471Leu) rs745717087 0.00001
NM_003036.4(SKI):c.1422A>T (p.Pro474=) rs772286488 0.00001
NM_003036.4(SKI):c.1428G>C (p.Glu476Asp) rs776816870 0.00001
NM_003036.4(SKI):c.1474+8T>A rs1249714928 0.00001
NM_003036.4(SKI):c.1475-5C>T rs1640509294 0.00001
NM_003036.4(SKI):c.1476C>T (p.Phe492=) rs1006090345 0.00001
NM_003036.4(SKI):c.1485C>T (p.Ser495=) rs964817956 0.00001
NM_003036.4(SKI):c.1506G>A (p.Pro502=) rs975738197 0.00001
NM_003036.4(SKI):c.1521C>T (p.Ser507=) rs1430227962 0.00001
NM_003036.4(SKI):c.1530C>T (p.Ala510=) rs1216089588 0.00001
NM_003036.4(SKI):c.1554G>A (p.Ala518=) rs770050757 0.00001
NM_003036.4(SKI):c.1572C>T (p.Ala524=) rs1285131836 0.00001
NM_003036.4(SKI):c.1620G>A (p.Ala540=) rs529842293 0.00001
NM_003036.4(SKI):c.163G>C (p.Ala55Pro) rs769506718 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.1739C>T (p.Ala580Val) rs1397350089 0.00001
NM_003036.4(SKI):c.1767+7G>A rs199962561 0.00001
NM_003036.4(SKI):c.1768-4C>T rs200246585 0.00001
NM_003036.4(SKI):c.1797G>A (p.Lys599=) rs767488534 0.00001
NM_003036.4(SKI):c.1833C>T (p.Asn611=) rs1557853907 0.00001
NM_003036.4(SKI):c.1860C>T (p.Arg620=) rs1002513362 0.00001
NM_003036.4(SKI):c.1878G>A (p.Lys626=) rs761614569 0.00001
NM_003036.4(SKI):c.1914G>A (p.Lys638=) rs752864137 0.00001
NM_003036.4(SKI):c.1998+9G>A rs533071160 0.00001
NM_003036.4(SKI):c.1999-11C>T rs1022360604 0.00001
NM_003036.4(SKI):c.1999-18C>T rs762184119 0.00001
NM_003036.4(SKI):c.1999-9C>T rs369496789 0.00001
NM_003036.4(SKI):c.2052G>T (p.Leu684=) rs1271020892 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00001
NM_003036.4(SKI):c.2133G>A (p.Pro711=) rs1640594973 0.00001
NM_003036.4(SKI):c.2138C>T (p.Ala713Val) rs1160688025 0.00001
NM_003036.4(SKI):c.2154G>A (p.Ala718=) rs778456446 0.00001
NM_003036.4(SKI):c.2172G>A (p.Ala724=) rs879070309 0.00001
NM_003036.4(SKI):c.258G>C (p.Leu86=) rs780679449 0.00001
NM_003036.4(SKI):c.300C>T (p.Arg100=) rs1286311989 0.00001
NM_003036.4(SKI):c.324G>A (p.Glu108=) rs201144990 0.00001
NM_003036.4(SKI):c.330C>T (p.Ile110=) rs764373577 0.00001
NM_003036.4(SKI):c.405G>T (p.Ser135=) rs769774481 0.00001
NM_003036.4(SKI):c.438C>T (p.Leu146=) rs371061756 0.00001
NM_003036.4(SKI):c.480C>T (p.Ile160=) rs952491836 0.00001
NM_003036.4(SKI):c.498C>T (p.Ile166=) rs768733290 0.00001
NM_003036.4(SKI):c.553C>T (p.Leu185=) rs753251990 0.00001
NM_003036.4(SKI):c.611C>T (p.Ala204Val) rs772336192 0.00001
NM_003036.4(SKI):c.648C>G (p.Arg216=) rs1398417113 0.00001
NM_003036.4(SKI):c.663C>T (p.Tyr221=) rs762684190 0.00001
NM_003036.4(SKI):c.691C>T (p.Leu231=) rs1191109372 0.00001
NM_003036.4(SKI):c.699G>T (p.Val233=) rs1174147537 0.00001
NM_003036.4(SKI):c.702C>G (p.Pro234=) rs1057523205 0.00001
NM_003036.4(SKI):c.72C>T (p.Phe24=) rs953342598 0.00001
NM_003036.4(SKI):c.75C>T (p.His25=) rs1486448334 0.00001
NM_003036.4(SKI):c.81C>T (p.Ser27=) rs755325222 0.00001
NM_003036.4(SKI):c.900C>A (p.Leu300=) rs747649658 0.00001
NM_003036.4(SKI):c.906C>T (p.Arg302=) rs772758586 0.00001
NM_003036.4(SKI):c.918C>T (p.Asp306=) rs776475482 0.00001
NM_003036.4(SKI):c.970-10T>C rs750601690 0.00001
NM_003036.4(SKI):c.970-11A>G rs1640462475 0.00001
NM_003238.6(TGFB2):c.1057T>G (p.Leu353Val) rs777045186 0.00001
NM_003238.6(TGFB2):c.1086+20G>C rs201814950 0.00001
NM_003238.6(TGFB2):c.1095C>T (p.Ser365=) rs748818194 0.00001
NM_003238.6(TGFB2):c.1098A>G (p.Leu366=) rs931960431 0.00001
NM_003238.6(TGFB2):c.1122A>T (p.Ala374=) rs1316829320 0.00001
NM_003238.6(TGFB2):c.126G>A (p.Gly42=) rs1199107727 0.00001
NM_003238.6(TGFB2):c.261C>T (p.Ala87=) rs746416777 0.00001
NM_003238.6(TGFB2):c.306G>A (p.Glu102=) rs754502128 0.00001
NM_003238.6(TGFB2):c.346+20T>A rs1226959859 0.00001
NM_003238.6(TGFB2):c.369C>T (p.Tyr123=) rs368157039 0.00001
NM_003238.6(TGFB2):c.40C>T (p.Leu14=) rs1407180803 0.00001
NM_003238.6(TGFB2):c.609A>G (p.Val203=) rs142588546 0.00001
NM_003238.6(TGFB2):c.612T>C (p.Thr204=) rs960874816 0.00001
NM_003238.6(TGFB2):c.918G>A (p.Ala306=) rs767936611 0.00001
NM_003238.6(TGFB2):c.942G>A (p.Gln314=) rs188801474 0.00001
NM_003238.6(TGFB2):c.957A>C (p.Leu319=) rs755474865 0.00001
NM_003239.5(TGFB3):c.1050C>T (p.Tyr350=) rs1386754558 0.00001
NM_003239.5(TGFB3):c.1137G>A (p.Val379=) rs751480221 0.00001
NM_003239.5(TGFB3):c.1230A>G (p.Lys410=) rs373100223 0.00001
NM_003239.5(TGFB3):c.294G>A (p.Ser98=) rs778214495 0.00001
NM_003239.5(TGFB3):c.339G>A (p.Gly113=) rs886050798 0.00001
NM_003239.5(TGFB3):c.369C>T (p.Cys123=) rs1457776871 0.00001
NM_003239.5(TGFB3):c.393T>C (p.Val131=) rs1302391555 0.00001
NM_003239.5(TGFB3):c.405T>C (p.Asn135=) rs756208950 0.00001
NM_003239.5(TGFB3):c.420G>A (p.Glu140=) rs878854609 0.00001
NM_003239.5(TGFB3):c.435C>T (p.Asn145=) rs2035294472 0.00001
NM_003239.5(TGFB3):c.471C>G (p.Pro157=) rs768917005 0.00001
NM_003239.5(TGFB3):c.480C>T (p.Ser160=) rs1555360832 0.00001
NM_003239.5(TGFB3):c.516+14C>T rs757567007 0.00001
NM_003239.5(TGFB3):c.516+15A>G rs199930875 0.00001
NM_003239.5(TGFB3):c.534G>A (p.Glu178=) rs148895204 0.00001
NM_003239.5(TGFB3):c.612C>T (p.Val204=) rs1000679465 0.00001
NM_003239.5(TGFB3):c.729C>T (p.His243=) rs746620931 0.00001
NM_003239.5(TGFB3):c.755-20A>C rs747852718 0.00001
NM_003239.5(TGFB3):c.755-5T>C rs768188445 0.00001
NM_003239.5(TGFB3):c.75C>T (p.Ser25=) rs773168115 0.00001
NM_003239.5(TGFB3):c.840C>T (p.Leu280=) rs746293134 0.00001
NM_003239.5(TGFB3):c.897G>A (p.Lys299=) rs771455698 0.00001
NM_003239.5(TGFB3):c.900G>C (p.Arg300=) rs761439201 0.00001
NM_003239.5(TGFB3):c.926+8_926+9del rs1491398509 0.00001
NM_003239.5(TGFB3):c.927-19T>C rs199714510 0.00001
NM_003239.5(TGFB3):c.927-4G>A rs201637508 0.00001
NM_003239.5(TGFB3):c.957C>T (p.Pro319=) rs977821614 0.00001
NM_003239.5(TGFB3):c.99C>T (p.Gly33=) rs757663439 0.00001
NM_000138.5(FBN1):c.102G>C (p.Val34=)
NM_000138.5(FBN1):c.1032C>T (p.Arg344=) rs2141336180
NM_000138.5(FBN1):c.1038T>A (p.Ser346=) rs2141336171
NM_000138.5(FBN1):c.1113T>C (p.Thr371=)
NM_000138.5(FBN1):c.1147+19A>G rs369942195
NM_000138.5(FBN1):c.1148-16T>C
NM_000138.5(FBN1):c.1148-6T>C
NM_000138.5(FBN1):c.1164G>T (p.Leu388=)
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg) rs534127494
NM_000138.5(FBN1):c.1200A>G (p.Glu400=)
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln) rs779930519
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg) rs779930519
NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu) rs779930519
NM_000138.5(FBN1):c.1239C>T (p.Leu413=) rs1308682011
NM_000138.5(FBN1):c.1266A>T (p.Gly422=) rs2141330973
NM_000138.5(FBN1):c.126C>G (p.Ala42=)
NM_000138.5(FBN1):c.1278G>A (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.1278G>T (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.1281C>A (p.Val427=) rs759949880
NM_000138.5(FBN1):c.1281C>G (p.Val427=) rs759949880
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) rs368089138
NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu) rs368089138
NM_000138.5(FBN1):c.1305G>A (p.Leu435=) rs769895864
NM_000138.5(FBN1):c.1311A>G (p.Pro437=) rs1253494702
NM_000138.5(FBN1):c.1327+7A>G rs529150174
NM_000138.5(FBN1):c.1328-15T>G rs2043793958
NM_000138.5(FBN1):c.1335G>T (p.Leu445=)
NM_000138.5(FBN1):c.135A>G (p.Arg45=) rs2140787554
NM_000138.5(FBN1):c.1461G>A (p.Glu487=)
NM_000138.5(FBN1):c.1468+12A>G
NM_000138.5(FBN1):c.1468+12A>T
NM_000138.5(FBN1):c.1468+15C>T rs762023380
NM_000138.5(FBN1):c.1468+19G>A
NM_000138.5(FBN1):c.1469-10T>C
NM_000138.5(FBN1):c.1469-14A>T rs2043779369
NM_000138.5(FBN1):c.1469-5T>G rs1060504144
NM_000138.5(FBN1):c.1469-6T>G
NM_000138.5(FBN1):c.1476T>C (p.Asp492=) rs758967612
NM_000138.5(FBN1):c.1506T>C (p.Gly502=) rs770426679
NM_000138.5(FBN1):c.150C>T (p.His50=) rs1597652302
NM_000138.5(FBN1):c.1524G>A (p.Gln508=)
NM_000138.5(FBN1):c.1530G>A (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.1530G>T (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.1536C>T (p.Thr512=) rs1178360874
NM_000138.5(FBN1):c.1542G>A (p.Gln514=)
NM_000138.5(FBN1):c.1560G>A (p.Gln520=)
NM_000138.5(FBN1):c.1566A>T (p.Thr522=) rs531264662
NM_000138.5(FBN1):c.1588+10T>G rs761924614
NM_000138.5(FBN1):c.1588+16C>T
NM_000138.5(FBN1):c.1588+20C>A
NM_000138.5(FBN1):c.1588+20C>G
NM_000138.5(FBN1):c.1588+9C>G rs757843637
NM_000138.5(FBN1):c.1589-20T>G
NM_000138.5(FBN1):c.1589-5T>C rs1371798538
NM_000138.5(FBN1):c.1589-7A>T rs1467162544
NM_000138.5(FBN1):c.1589-8G>T rs779629563
NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
NM_000138.5(FBN1):c.1614C>T (p.Gly538=) rs2141323481
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser) rs963564435
NM_000138.5(FBN1):c.164+13G>T
NM_000138.5(FBN1):c.164+16C>T
NM_000138.5(FBN1):c.1641C>A (p.Ile547=) rs2141323402
NM_000138.5(FBN1):c.165-8T>G rs750029122
NM_000138.5(FBN1):c.1662T>C (p.His554=)
NM_000138.5(FBN1):c.1674T>C (p.Asn558=) rs2141323328
NM_000138.5(FBN1):c.1714+11T>C
NM_000138.5(FBN1):c.1714+13T>A
NM_000138.5(FBN1):c.1714+14A>G
NM_000138.5(FBN1):c.1714+7A>G
NM_000138.5(FBN1):c.1715-10G>A rs764128146
NM_000138.5(FBN1):c.1715-15G>A
NM_000138.5(FBN1):c.1715-17A>G
NM_000138.5(FBN1):c.1715-8A>G rs1555399978
NM_000138.5(FBN1):c.1715-9T>A rs1057520813
NM_000138.5(FBN1):c.1715-9T>C
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
NM_000138.5(FBN1):c.1761T>C (p.Cys587=) rs1060504143
NM_000138.5(FBN1):c.1791T>C (p.Ile597=)
NM_000138.5(FBN1):c.1815A>G (p.Ala605=) rs2141321499
NM_000138.5(FBN1):c.1830T>C (p.Tyr610=) rs1247219658
NM_000138.5(FBN1):c.1837+12A>G
NM_000138.5(FBN1):c.1838-17G>A
NM_000138.5(FBN1):c.1838-17G>T
NM_000138.5(FBN1):c.192T>C (p.Asn64=)
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro) rs1566913983
NM_000138.5(FBN1):c.1947C>T (p.Gly649=) rs2141317155
NM_000138.5(FBN1):c.195T>C (p.Ala65=) rs759873157
NM_000138.5(FBN1):c.1960+14A>G
NM_000138.5(FBN1):c.1960+15T>C
NM_000138.5(FBN1):c.1960+9A>G
NM_000138.5(FBN1):c.1961-18A>G
NM_000138.5(FBN1):c.1961-5T>C rs919746497
NM_000138.5(FBN1):c.1962C>T (p.Asp654=)
NM_000138.5(FBN1):c.1980A>G (p.Thr660=) rs531454879
NM_000138.5(FBN1):c.198C>T (p.Tyr66=) rs2044669179
NM_000138.5(FBN1):c.1992A>C (p.Gly664=)
NM_000138.5(FBN1):c.1998G>A (p.Lys666=)
NM_000138.5(FBN1):c.2004C>T (p.Gly668=)
NM_000138.5(FBN1):c.2007G>A (p.Gln669=)
NM_000138.5(FBN1):c.2022G>A (p.Leu674=)
NM_000138.5(FBN1):c.2031T>C (p.Ala677=)
NM_000138.5(FBN1):c.2067G>A (p.Glu689=)
NM_000138.5(FBN1):c.2085T>C (p.Pro695=) rs2141315721
NM_000138.5(FBN1):c.2094G>A (p.Pro698=) rs144775475
NM_000138.5(FBN1):c.2100T>C (p.Pro700=)
NM_000138.5(FBN1):c.2103A>G (p.Ala701=) rs2141315644
NM_000138.5(FBN1):c.2113+18_2113+19delinsAT
NM_000138.5(FBN1):c.2114-15G>C rs1566912665
NM_000138.5(FBN1):c.2114-20T>C
NM_000138.5(FBN1):c.2114-7A>G
NM_000138.5(FBN1):c.2167+19A>C
NM_000138.5(FBN1):c.2168-11T>C
NM_000138.5(FBN1):c.2168-15T>G
NM_000138.5(FBN1):c.2168-4G>A rs2141306607
NM_000138.5(FBN1):c.2187A>G (p.Leu729=) rs61730055
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.2241A>G (p.Lys747=) rs1045070535
NM_000138.5(FBN1):c.2268G>A (p.Val756=) rs2141306354
NM_000138.5(FBN1):c.2277T>C (p.Thr759=) rs1028807052
NM_000138.5(FBN1):c.2277T>G (p.Thr759=)
NM_000138.5(FBN1):c.228C>G (p.Gly76=) rs141651917
NM_000138.5(FBN1):c.2293+14C>A
NM_000138.5(FBN1):c.2293+15C>T
NM_000138.5(FBN1):c.2293+17A>G
NM_000138.5(FBN1):c.2293+8G>A
NM_000138.5(FBN1):c.2293+8G>T
NM_000138.5(FBN1):c.2294-18T>C
NM_000138.5(FBN1):c.2294-20T>C
NM_000138.5(FBN1):c.2294-9_2294-4del rs1597569681
NM_000138.5(FBN1):c.2340A>G (p.Gln780=)
NM_000138.5(FBN1):c.2343T>C (p.Cys781=) rs199647257
NM_000138.5(FBN1):c.2352T>A (p.Thr784=) rs2141305065
NM_000138.5(FBN1):c.2376C>T (p.Cys792=) rs1060504142
NM_000138.5(FBN1):c.2377C>T (p.Pro793Ser)
NM_000138.5(FBN1):c.237G>A (p.Gln79=)
NM_000138.5(FBN1):c.2385A>T (p.Gly795=)
NM_000138.5(FBN1):c.2391C>T (p.Ile797=) rs2141304992
NM_000138.5(FBN1):c.2397A>G (p.Lys799=)
NM_000138.5(FBN1):c.2404C>T (p.Leu802=)
NM_000138.5(FBN1):c.2419+16G>C
NM_000138.5(FBN1):c.2451T>G (p.Ile817Met)
NM_000138.5(FBN1):c.247+20G>A rs2140737315
NM_000138.5(FBN1):c.247+9A>C rs1298547542
NM_000138.5(FBN1):c.248-4A>G rs1597631751
NM_000138.5(FBN1):c.2493A>G (p.Glu831=) rs756410019
NM_000138.5(FBN1):c.2508T>C (p.Ser836=) rs193922190
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser) rs1381506466
NM_000138.5(FBN1):c.2529C>T (p.Thr843=)
NM_000138.5(FBN1):c.2539+10T>A rs878853679
NM_000138.5(FBN1):c.2539+10T>C rs878853679
NM_000138.5(FBN1):c.2539+11T>C
NM_000138.5(FBN1):c.2539+13C>T
NM_000138.5(FBN1):c.2539+17G>A
NM_000138.5(FBN1):c.2539+19A>T rs370949913
NM_000138.5(FBN1):c.2539+9C>T rs765271763
NM_000138.5(FBN1):c.2540-10T>A
NM_000138.5(FBN1):c.2544C>T (p.Thr848=) rs2043596539
NM_000138.5(FBN1):c.2568T>C (p.Thr856=)
NM_000138.5(FBN1):c.258G>T (p.Arg86=)
NM_000138.5(FBN1):c.2601T>C (p.Asn867=)
NM_000138.5(FBN1):c.2613A>G (p.Leu871=) rs770290542
NM_000138.5(FBN1):c.2646G>A (p.Ala882=) rs376040442
NM_000138.5(FBN1):c.2646G>C (p.Ala882=) rs376040442
NM_000138.5(FBN1):c.2662A>T (p.Thr888Ser)
NM_000138.5(FBN1):c.2664C>T (p.Thr888=) rs1597568804
NM_000138.5(FBN1):c.2665C>G (p.Leu889Val)
NM_000138.5(FBN1):c.2666T>A (p.Leu889Gln)
NM_000138.5(FBN1):c.2667A>G (p.Leu889=) rs780192241
NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)
NM_000138.5(FBN1):c.2677+14A>G
NM_000138.5(FBN1):c.2677+15T>C
NM_000138.5(FBN1):c.2677+16G>A
NM_000138.5(FBN1):c.2677+18T>G
NM_000138.5(FBN1):c.2678-10T>C rs1457653118
NM_000138.5(FBN1):c.2678-8T>C
NM_000138.5(FBN1):c.2678-9T>A rs2141302502
NM_000138.5(FBN1):c.2691T>C (p.Gly897=) rs1555399096
NM_000138.5(FBN1):c.2718A>G (p.Thr906=) rs2141302366
NM_000138.5(FBN1):c.2721A>G (p.Gln907=) rs781062880
NM_000138.5(FBN1):c.2721A>T (p.Gln907His) rs781062880
NM_000138.5(FBN1):c.2728+13A>G
NM_000138.5(FBN1):c.2728+14C>G
NM_000138.5(FBN1):c.2728+16T>G
NM_000138.5(FBN1):c.2728+18T>A
NM_000138.5(FBN1):c.2728+18T>C
NM_000138.5(FBN1):c.2729-11T>C
NM_000138.5(FBN1):c.2729-13T>G
NM_000138.5(FBN1):c.2729-14T>G
NM_000138.5(FBN1):c.2729-16T>C
NM_000138.5(FBN1):c.2729-17T>C
NM_000138.5(FBN1):c.2729-19A>T
NM_000138.5(FBN1):c.2729-3del rs756503206
NM_000138.5(FBN1):c.2729-7T>C rs1269178652
NM_000138.5(FBN1):c.2729-8C>A rs775257418
NM_000138.5(FBN1):c.2729-8C>T rs775257418
NM_000138.5(FBN1):c.2736T>C (p.Asp912=)
NM_000138.5(FBN1):c.2784C>T (p.Asn928=)
NM_000138.5(FBN1):c.2790G>A (p.Arg930=)
NM_000138.5(FBN1):c.2796A>G (p.Ser932=) rs1261762653
NM_000138.5(FBN1):c.2799C>T (p.Phe933=) rs2141300339
NM_000138.5(FBN1):c.27C>T (p.Ile9=) rs1057522209
NM_000138.5(FBN1):c.2808G>A (p.Gln936=)
NM_000138.5(FBN1):c.2817T>C (p.Ser939=) rs1254659886
NM_000138.5(FBN1):c.2854+10G>A rs768540741
NM_000138.5(FBN1):c.2854+11A>G
NM_000138.5(FBN1):c.2854+15C>T
NM_000138.5(FBN1):c.2854+20T>C
NM_000138.5(FBN1):c.2854+7A>G
NM_000138.5(FBN1):c.2854+9T>G
NM_000138.5(FBN1):c.2855-11C>T
NM_000138.5(FBN1):c.2855-16T>C rs2141297617
NM_000138.5(FBN1):c.2855-18C>G
NM_000138.5(FBN1):c.2855-19C>T
NM_000138.5(FBN1):c.2855-8T>C rs193922195
NM_000138.5(FBN1):c.2856T>C (p.Asp952=)
NM_000138.5(FBN1):c.2905C>T (p.Leu969=) rs376776832
NM_000138.5(FBN1):c.2913T>C (p.Ile971=) rs2141297416
NM_000138.5(FBN1):c.2934C>T (p.Asp978=) rs138438849
NM_000138.5(FBN1):c.2952C>A (p.Val984=) rs374670384
NM_000138.5(FBN1):c.2957C>T (p.Ala986Val)
NM_000138.5(FBN1):c.2961C>G (p.Ala987=)
NM_000138.5(FBN1):c.2982G>A (p.Glu994=) rs758745637
NM_000138.5(FBN1):c.2985G>A (p.Glu995=)
NM_000138.5(FBN1):c.3006T>C (p.Pro1002=) rs2141297191
NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=) rs397515784
NM_000138.5(FBN1):c.3015G>A (p.Glu1005=) rs1430562775
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=) rs774381427
NM_000138.5(FBN1):c.3051A>G (p.Lys1017=)
NM_000138.5(FBN1):c.3054A>G (p.Glu1018=) rs1060504141
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=) rs553411757
NM_000138.5(FBN1):c.3082+11dup
NM_000138.5(FBN1):c.3082+12C>G
NM_000138.5(FBN1):c.3082+12C>T
NM_000138.5(FBN1):c.3082+8G>A
NM_000138.5(FBN1):c.3082+9T>C rs746303949
NM_000138.5(FBN1):c.3083-18A>G
NM_000138.5(FBN1):c.3083-9T>C
NM_000138.5(FBN1):c.30C>A (p.Ala10=) rs1373206190
NM_000138.5(FBN1):c.30C>T (p.Ala10=)
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)
NM_000138.5(FBN1):c.3111C>T (p.Ser1037=) rs2141295290
NM_000138.5(FBN1):c.3123C>A (p.His1041Gln)
NM_000138.5(FBN1):c.3123C>T (p.His1041=) rs576395584
NM_000138.5(FBN1):c.3144T>A (p.Ile1048=) rs112384723
NM_000138.5(FBN1):c.3201C>T (p.Asn1067=)
NM_000138.5(FBN1):c.3208+10T>C rs1597564173
NM_000138.5(FBN1):c.3208+13G>A rs2043527577
NM_000138.5(FBN1):c.3208+14C>G
NM_000138.5(FBN1):c.3208+7T>A
NM_000138.5(FBN1):c.3209-11T>G
NM_000138.5(FBN1):c.3209-13T>C
NM_000138.5(FBN1):c.3209-19A>G
NM_000138.5(FBN1):c.3209-6G>C rs942309418
NM_000138.5(FBN1):c.3210C>T (p.Asp1070=) rs754970748
NM_000138.5(FBN1):c.3213T>A (p.Ile1071=)
NM_000138.5(FBN1):c.3297A>G (p.Glu1099=) rs1555398626
NM_000138.5(FBN1):c.3334A>T (p.Met1112Leu)
NM_000138.5(FBN1):c.3337+15A>T
NM_000138.5(FBN1):c.3338-16C>T
NM_000138.5(FBN1):c.3338-18del
NM_000138.5(FBN1):c.3366C>T (p.Leu1122=) rs2141293747
NM_000138.5(FBN1):c.336C>T (p.Gly112=) rs1555405526
NM_000138.5(FBN1):c.3390T>C (p.His1130=)
NM_000138.5(FBN1):c.339C>T (p.Ser113=)
NM_000138.5(FBN1):c.3402A>G (p.Gly1134=)
NM_000138.5(FBN1):c.3411C>T (p.Arg1137=) rs878853681
NM_000138.5(FBN1):c.3447C>T (p.Asn1149=)
NM_000138.5(FBN1):c.3463+15T>A rs1597563076
NM_000138.5(FBN1):c.3464-16_3464-14del rs775944757
NM_000138.5(FBN1):c.347-19CTT[2] rs756583965
NM_000138.5(FBN1):c.3471T>C (p.Asn1157=)
NM_000138.5(FBN1):c.3487G>A (p.Ala1163Thr)
NM_000138.5(FBN1):c.3516G>C (p.Val1172=) rs2141293239
NM_000138.5(FBN1):c.3528G>A (p.Gly1176=) rs902201289
NM_000138.5(FBN1):c.3537G>A (p.Gln1179=)
NM_000138.5(FBN1):c.3579A>G (p.Leu1193=)
NM_000138.5(FBN1):c.3582T>C (p.Phe1194=) rs2141293096
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile) rs1352765609
NM_000138.5(FBN1):c.3590-10T>C rs1384307516
NM_000138.5(FBN1):c.3590-11A>G rs777262423
NM_000138.5(FBN1):c.3590-17_3590-15del
NM_000138.5(FBN1):c.3590-19T>C
NM_000138.5(FBN1):c.3590-9T>A
NM_000138.5(FBN1):c.359A>G (p.Asn120Ser) rs753900024
NM_000138.5(FBN1):c.3605G>A (p.Ser1202Asn) rs758542279
NM_000138.5(FBN1):c.3712+16C>T
NM_000138.5(FBN1):c.3712+9G>A
NM_000138.5(FBN1):c.3712+9G>T rs769251450
NM_000138.5(FBN1):c.3713-17G>T
NM_000138.5(FBN1):c.3713-4G>A rs2141289788
NM_000138.5(FBN1):c.3730G>A (p.Asp1244Asn)
NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)
NM_000138.5(FBN1):c.3786G>A (p.Arg1262=) rs1555398280
NM_000138.5(FBN1):c.378A>C (p.Gly126=)
NM_000138.5(FBN1):c.3801T>C (p.Asp1267=) rs769208631
NM_000138.5(FBN1):c.381T>C (p.Gly127=)
NM_000138.5(FBN1):c.3838+16A>G
NM_000138.5(FBN1):c.3838+18A>T
NM_000138.5(FBN1):c.3839-15A>C
NM_000138.5(FBN1):c.3839-19T>C
NM_000138.5(FBN1):c.3839-20A>G rs891189448
NM_000138.5(FBN1):c.3843C>A (p.Val1281=)
NM_000138.5(FBN1):c.3849G>A (p.Glu1283=)
NM_000138.5(FBN1):c.3870C>T (p.Ile1290=) rs2043466994
NM_000138.5(FBN1):c.3897G>C (p.Thr1299=) rs771283158
NM_000138.5(FBN1):c.3936C>A (p.Ser1312=) rs779913610
NM_000138.5(FBN1):c.3939C>G (p.Gly1313=) rs1597558962
NM_000138.5(FBN1):c.3964+12C>G
NM_000138.5(FBN1):c.3964+13A>C
NM_000138.5(FBN1):c.3964+9G>T rs1412748899
NM_000138.5(FBN1):c.3965-10A>G
NM_000138.5(FBN1):c.3965-15dup rs2043405703
NM_000138.5(FBN1):c.3966C>T (p.Asp1322=) rs2141280317
NM_000138.5(FBN1):c.3969C>A (p.Ile1323=) rs536546914
NM_000138.5(FBN1):c.3975A>G (p.Glu1325=) rs1555397741
NM_000138.5(FBN1):c.3988G>A (p.Ala1330Thr)
NM_000138.5(FBN1):c.4023T>C (p.Asn1341=) rs2043404831
NM_000138.5(FBN1):c.4035C>T (p.Ser1345=) rs1400471354
NM_000138.5(FBN1):c.4065T>A (p.Ile1355=)
NM_000138.5(FBN1):c.4068A>C (p.Gly1356=) rs1555397706
NM_000138.5(FBN1):c.4088-13C>T
NM_000138.5(FBN1):c.4088-14C>A
NM_000138.5(FBN1):c.4088-15A>C
NM_000138.5(FBN1):c.4088-17T>C rs1397067049
NM_000138.5(FBN1):c.4088-8T>C
NM_000138.5(FBN1):c.4107T>C (p.Asn1369=) rs765588220
NM_000138.5(FBN1):c.4134A>T (p.Ala1378=)
NM_000138.5(FBN1):c.4146T>C (p.Asn1382=)
NM_000138.5(FBN1):c.4149C>G (p.Thr1383=)
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile) rs1488326228
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=) rs2141279769
NM_000138.5(FBN1):c.4164C>A (p.Arg1388=)
NM_000138.5(FBN1):c.4179A>G (p.Glu1393=) rs1597553731
NM_000138.5(FBN1):c.4185C>T (p.Tyr1395=) rs2043401602
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) rs747867726
NM_000138.5(FBN1):c.4191T>C (p.Gly1397=)
NM_000138.5(FBN1):c.4197C>T (p.Gly1399=)
NM_000138.5(FBN1):c.4210+11G>A rs148057138
NM_000138.5(FBN1):c.4210+14G>T
NM_000138.5(FBN1):c.4210+15G>A
NM_000138.5(FBN1):c.4210+15G>C
NM_000138.5(FBN1):c.4210+16A>C
NM_000138.5(FBN1):c.4210+16A>G
NM_000138.5(FBN1):c.4211-12_4211-9del rs1597552613
NM_000138.5(FBN1):c.4211-5T>C
NM_000138.5(FBN1):c.4211-8G>C rs764384543
NM_000138.5(FBN1):c.4230G>A (p.Glu1410=)
NM_000138.5(FBN1):c.4254C>G (p.Gly1418=)
NM_000138.5(FBN1):c.4263C>G (p.Leu1421=)
NM_000138.5(FBN1):c.4269A>T (p.Ala1423=) rs775256810
NM_000138.5(FBN1):c.4281C>T (p.Tyr1427=)
NM_000138.5(FBN1):c.4293C>T (p.Cys1431=) rs112375043
NM_000138.5(FBN1):c.4305C>T (p.Phe1435=) rs1243628683
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu) rs377338217
NM_000138.5(FBN1):c.431A>G (p.His144Arg)
NM_000138.5(FBN1):c.4336+19A>G rs2043384546
NM_000138.5(FBN1):c.4336+4_4336+11dup
NM_000138.5(FBN1):c.4336+9T>A
NM_000138.5(FBN1):c.4337-12C>T rs573468967
NM_000138.5(FBN1):c.4337-4dup rs1566905439
NM_000138.5(FBN1):c.4337-8C>A rs1458842000
NM_000138.5(FBN1):c.4362C>T (p.Asn1454=) rs1060504145
NM_000138.5(FBN1):c.4395T>C (p.Pro1465=) rs1555397410
NM_000138.5(FBN1):c.4401G>A (p.Leu1467=)
NM_000138.5(FBN1):c.4401G>C (p.Leu1467=) rs747377334
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=) rs780479561
NM_000138.5(FBN1):c.442+8C>T rs771771077
NM_000138.5(FBN1):c.443-12C>A rs1027154934
NM_000138.5(FBN1):c.443-13C>T
NM_000138.5(FBN1):c.443-17C>G
NM_000138.5(FBN1):c.443-20G>A
NM_000138.5(FBN1):c.443-8T>C rs1319616777
NM_000138.5(FBN1):c.443-9A>T
NM_000138.5(FBN1):c.4459+16G>A
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=) rs2043341420
NM_000138.5(FBN1):c.4512C>T (p.Asn1504=)
NM_000138.5(FBN1):c.4569A>T (p.Arg1523=) rs2141272876
NM_000138.5(FBN1):c.4582+11A>G
NM_000138.5(FBN1):c.4582+19_4582+21del
NM_000138.5(FBN1):c.4582+7C>T rs768496209
NM_000138.5(FBN1):c.4583-12T>C rs1326100045
NM_000138.5(FBN1):c.4583-18T>C
NM_000138.5(FBN1):c.4583-6A>T
NM_000138.5(FBN1):c.4583-8G>C rs910464222
NM_000138.5(FBN1):c.4583-9G>C rs2043338449
NM_000138.5(FBN1):c.4587C>T (p.Thr1529=) rs1366052911
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=) rs985992262
NM_000138.5(FBN1):c.4620T>G (p.Pro1540=)
NM_000138.5(FBN1):c.4656A>G (p.Glu1552=) rs768210642
NM_000138.5(FBN1):c.465C>T (p.Leu155=)
NM_000138.5(FBN1):c.4671T>C (p.Val1557=) rs978094803
NM_000138.5(FBN1):c.4731T>C (p.Cys1577=)
NM_000138.5(FBN1):c.4747+15T>G
NM_000138.5(FBN1):c.4747+19A>G rs2141272191
NM_000138.5(FBN1):c.4747+8G>A rs368739764
NM_000138.5(FBN1):c.4747+8G>C
NM_000138.5(FBN1):c.4748-10G>A
NM_000138.5(FBN1):c.4748-10G>C
NM_000138.5(FBN1):c.4748-19T>A
NM_000138.5(FBN1):c.4748-3T>C rs770762644
NM_000138.5(FBN1):c.4749C>T (p.Ser1583=) rs1275608178
NM_000138.5(FBN1):c.4764T>C (p.Leu1588=) rs2043316351
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=) rs2043316050
NM_000138.5(FBN1):c.4816+8_4816+9insTACCTTCCTT rs878853684
NM_000138.5(FBN1):c.4817-14T>G
NM_000138.5(FBN1):c.4817-16G>T
NM_000138.5(FBN1):c.4817-7T>C
NM_000138.5(FBN1):c.4817-8T>C rs2043315040
NM_000138.5(FBN1):c.4827G>A (p.Glu1609=)
NM_000138.5(FBN1):c.4848G>C (p.Leu1616=)
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=) rs2043314687
NM_000138.5(FBN1):c.486C>G (p.Ala162=)
NM_000138.5(FBN1):c.486C>T (p.Ala162=) rs2044515505
NM_000138.5(FBN1):c.4881G>A (p.Gly1627=)
NM_000138.5(FBN1):c.4896C>G (p.Arg1632=) rs2141269637
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.4914C>T (p.Tyr1638=)
NM_000138.5(FBN1):c.4917G>T (p.Leu1639=)
NM_000138.5(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000138.5(FBN1):c.4942+19A>C
NM_000138.5(FBN1):c.4942+19A>T rs2141269507
NM_000138.5(FBN1):c.4942+20T>A
NM_000138.5(FBN1):c.4942+8G>C
NM_000138.5(FBN1):c.4942+9T>G
NM_000138.5(FBN1):c.4943-13C>T
NM_000138.5(FBN1):c.4943-15C>A
NM_000138.5(FBN1):c.4943-25_4943-19del
NM_000138.5(FBN1):c.4943-4A>G rs1555396865
NM_000138.5(FBN1):c.4962T>C (p.Thr1654=)
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5013C>T (p.Thr1671=)
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.5066-19T>C
NM_000138.5(FBN1):c.5066-5dup
NM_000138.5(FBN1):c.5076A>G (p.Arg1692=) rs2141266766
NM_000138.5(FBN1):c.5100T>C (p.Tyr1700=)
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=) rs1235270306
NM_000138.5(FBN1):c.5121T>C (p.Asp1707=) rs1031351464
NM_000138.5(FBN1):c.5178C>T (p.Gly1726=) rs1303761807
NM_000138.5(FBN1):c.5181G>C (p.Arg1727=) rs1288751290
NM_000138.5(FBN1):c.5214C>T (p.Ile1738=)
NM_000138.5(FBN1):c.5224+11G>A rs776454928
NM_000138.5(FBN1):c.5225-10A>T
NM_000138.5(FBN1):c.5232T>C (p.Phe1744=)
NM_000138.5(FBN1):c.5271C>T (p.Ile1757=) rs1291913287
NM_000138.5(FBN1):c.5272G>A (p.Asp1758Asn)
NM_000138.5(FBN1):c.5274C>T (p.Asp1758=) rs1566902542
NM_000138.5(FBN1):c.5283C>G (p.Thr1761=)
NM_000138.5(FBN1):c.5296+10G>A
NM_000138.5(FBN1):c.5296+12C>G rs566030960
NM_000138.5(FBN1):c.5296+7C>T
NM_000138.5(FBN1):c.5296+8A>C
NM_000138.5(FBN1):c.5297-10C>T
NM_000138.5(FBN1):c.5297-15C>T
NM_000138.5(FBN1):c.5307G>A (p.Glu1769=)
NM_000138.5(FBN1):c.5343G>C (p.Val1781=)
NM_000138.5(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.5(FBN1):c.5367C>T (p.Phe1789=)
NM_000138.5(FBN1):c.538+12T>A
NM_000138.5(FBN1):c.5391C>T (p.Phe1797=) rs775373513
NM_000138.5(FBN1):c.5403C>T (p.Asp1801=)
NM_000138.5(FBN1):c.5409G>A (p.Leu1803=) rs906226501
NM_000138.5(FBN1):c.5422+13A>T
NM_000138.5(FBN1):c.5423-16T>C
NM_000138.5(FBN1):c.5423-19A>G
NM_000138.5(FBN1):c.5427T>C (p.Ile1809=) rs2141256134
NM_000138.5(FBN1):c.5448A>G (p.Pro1816=) rs2043210295
NM_000138.5(FBN1):c.5478C>T (p.Asn1826=) rs1213848361
NM_000138.5(FBN1):c.5532A>G (p.Thr1844=)
NM_000138.5(FBN1):c.5545+12C>T rs193922213
NM_000138.5(FBN1):c.5545+15A>G
NM_000138.5(FBN1):c.5545+19G>C
NM_000138.5(FBN1):c.5546-11C>G
NM_000138.5(FBN1):c.5546-15G>A
NM_000138.5(FBN1):c.5546-8A>T
NM_000138.5(FBN1):c.5586T>C (p.His1862=)
NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr) rs773133679
NM_000138.5(FBN1):c.5604A>G (p.Thr1868=)
NM_000138.5(FBN1):c.5607T>C (p.Val1869=) rs1597535252
NM_000138.5(FBN1):c.5619T>C (p.Tyr1873=)
NM_000138.5(FBN1):c.5637T>G (p.Gly1879=)
NM_000138.5(FBN1):c.5672-14T>C
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.5672-5A>G
NM_000138.5(FBN1):c.5672-6T>A rs1555395850
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=) rs772617187
NM_000138.5(FBN1):c.5706T>C (p.Asn1902=) rs1597533673
NM_000138.5(FBN1):c.570C>T (p.Ile190=)
NM_000138.5(FBN1):c.5718G>C (p.Arg1906=) rs1403178913
NM_000138.5(FBN1):c.5725A>G (p.Ile1909Val)
NM_000138.5(FBN1):c.5788+10del rs761983874
NM_000138.5(FBN1):c.5788+13_5788+14del rs886038252
NM_000138.5(FBN1):c.5788+15T>A rs543458649
NM_000138.5(FBN1):c.5788+15T>C rs543458649
NM_000138.5(FBN1):c.5789-13G>A rs777593835
NM_000138.5(FBN1):c.57C>G (p.Ser19=) rs1890261910
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=) rs759049300
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=) rs2043151355
NM_000138.5(FBN1):c.5892G>A (p.Val1964=)
NM_000138.5(FBN1):c.5917+11G>A
NM_000138.5(FBN1):c.5917+15del
NM_000138.5(FBN1):c.5917+20A>G
NM_000138.5(FBN1):c.5917+8C>T rs1566898389
NM_000138.5(FBN1):c.5989A>C (p.Arg1997=)
NM_000138.5(FBN1):c.5994C>T (p.Cys1998=) rs1555395648
NM_000138.5(FBN1):c.600C>T (p.Ser200=)
NM_000138.5(FBN1):c.6015T>C (p.Ser2005=)
NM_000138.5(FBN1):c.6037+10C>T rs2141247970
NM_000138.5(FBN1):c.6037+16G>A
NM_000138.5(FBN1):c.6037+17T>C
NM_000138.5(FBN1):c.6038-13G>T rs536742402
NM_000138.5(FBN1):c.6038-14T>C rs369107058
NM_000138.5(FBN1):c.6038-16C>T
NM_000138.5(FBN1):c.6038-23_6038-20del
NM_000138.5(FBN1):c.6048G>A (p.Glu2016=) rs991367684
NM_000138.5(FBN1):c.6060G>A (p.Glu2020=) rs1597529860
NM_000138.5(FBN1):c.6075C>G (p.Ala2025=) rs1597529820
NM_000138.5(FBN1):c.6084A>G (p.Thr2028=) rs1597529803
NM_000138.5(FBN1):c.6111A>G (p.Lys2037=)
NM_000138.5(FBN1):c.6123A>G (p.Pro2041=)
NM_000138.5(FBN1):c.6129G>T (p.Gly2043=)
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=) rs2141245369
NM_000138.5(FBN1):c.6144C>T (p.Ser2048=)
NM_000138.5(FBN1):c.6163+17G>C
NM_000138.5(FBN1):c.6163+8T>G
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)
NM_000138.5(FBN1):c.6207G>A (p.Lys2069=) rs1021415072
NM_000138.5(FBN1):c.6219C>T (p.Pro2073=) rs771786623
NM_000138.5(FBN1):c.621G>A (p.Thr207=) rs765173237
NM_000138.5(FBN1):c.6243G>A (p.Gln2081=)
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=) rs2043084739
NM_000138.5(FBN1):c.6313+9G>A
NM_000138.5(FBN1):c.6314-14T>A
NM_000138.5(FBN1):c.6314-14T>G
NM_000138.5(FBN1):c.6314-6C>G
NM_000138.5(FBN1):c.6314-6C>T rs2141240971
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val) rs1165109120
NM_000138.5(FBN1):c.6348G>A (p.Gly2116=)
NM_000138.5(FBN1):c.636A>C (p.Thr212=)
NM_000138.5(FBN1):c.6375A>C (p.Ala2125=) rs2141240830
NM_000138.5(FBN1):c.6375A>G (p.Ala2125=) rs2141240830
NM_000138.5(FBN1):c.6379+11T>A
NM_000138.5(FBN1):c.6379+16T>G
NM_000138.5(FBN1):c.6379+17G>T
NM_000138.5(FBN1):c.6379+9C>T rs1555395223
NM_000138.5(FBN1):c.6380-20T>C
NM_000138.5(FBN1):c.63G>A (p.Thr21=) rs2140787726
NM_000138.5(FBN1):c.63G>C (p.Thr21=)
NM_000138.5(FBN1):c.645A>T (p.Arg215=) rs200062771
NM_000138.5(FBN1):c.6496+10A>C
NM_000138.5(FBN1):c.6496+12G>A rs899879407
NM_000138.5(FBN1):c.6497-13T>C
NM_000138.5(FBN1):c.6497-14_6497-12del
NM_000138.5(FBN1):c.6497-15C>T rs569535886
NM_000138.5(FBN1):c.6497-19C>T
NM_000138.5(FBN1):c.6497-4G>A
NM_000138.5(FBN1):c.6497-9T>A
NM_000138.5(FBN1):c.6501T>C (p.Thr2167=) rs2141237184
NM_000138.5(FBN1):c.6549T>C (p.Asn2183=)
NM_000138.5(FBN1):c.654C>T (p.Gly218=)
NM_000138.5(FBN1):c.6582G>A (p.Glu2194=)
NM_000138.5(FBN1):c.6591G>A (p.Glu2197=)
NM_000138.5(FBN1):c.6600A>G (p.Pro2200=)
NM_000138.5(FBN1):c.6616+17G>C
NM_000138.5(FBN1):c.6616+7C>G rs778659143
NM_000138.5(FBN1):c.6617-11_6617-9del rs2141235287
NM_000138.5(FBN1):c.6617-12C>T
NM_000138.5(FBN1):c.6617-17A>T
NM_000138.5(FBN1):c.6617-7G>C
NM_000138.5(FBN1):c.6636G>A (p.Gln2212=) rs2141235218
NM_000138.5(FBN1):c.6643C>T (p.Leu2215=) rs921997271
NM_000138.5(FBN1):c.6648C>A (p.Leu2216=) rs755861623
NM_000138.5(FBN1):c.6648C>G (p.Leu2216=)
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6687A>G (p.Glu2229=)
NM_000138.5(FBN1):c.6705A>G (p.Gly2235=)
NM_000138.5(FBN1):c.6711G>A (p.Val2237=)
NM_000138.5(FBN1):c.6711G>T (p.Val2237=) rs760867972
NM_000138.5(FBN1):c.6739+11G>A
NM_000138.5(FBN1):c.6739+13G>A
NM_000138.5(FBN1):c.6739+16C>T
NM_000138.5(FBN1):c.6740-10T>A rs1456822662
NM_000138.5(FBN1):c.6740-11A>T
NM_000138.5(FBN1):c.6740-13A>C
NM_000138.5(FBN1):c.6740-17T>C
NM_000138.5(FBN1):c.6740-19G>C
NM_000138.5(FBN1):c.6750G>A (p.Glu2250=) rs887646369
NM_000138.5(FBN1):c.6786A>G (p.Gln2262=)
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.5(FBN1):c.6817A>G (p.Met2273Val)
NM_000138.5(FBN1):c.681G>A (p.Gln227=) rs2141358095
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.5(FBN1):c.6837G>C (p.Gly2279=)
NM_000138.5(FBN1):c.6858A>G (p.Gly2286=)
NM_000138.5(FBN1):c.6871+10T>C rs745421627
NM_000138.5(FBN1):c.6871+16T>C
NM_000138.5(FBN1):c.6871+7G>C rs1597520513
NM_000138.5(FBN1):c.6871+8G>C
NM_000138.5(FBN1):c.6871+8G>T
NM_000138.5(FBN1):c.6871+9A>G
NM_000138.5(FBN1):c.6872-7C>T
NM_000138.5(FBN1):c.6872-961A>T
NM_000138.5(FBN1):c.687C>T (p.His229=) rs1391600366
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.6900G>A (p.Gly2300=)
NM_000138.5(FBN1):c.6915G>C (p.Gly2305=)
NM_000138.5(FBN1):c.6954T>C (p.Cys2318=)
NM_000138.5(FBN1):c.6972C>G (p.Ala2324=) rs1597518738
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=) rs363831
NM_000138.5(FBN1):c.6997+10G>A
NM_000138.5(FBN1):c.6997+17_6997+18delinsGT rs2141229764
NM_000138.5(FBN1):c.6997+19G>A rs767445722
NM_000138.5(FBN1):c.6997+20C>T
NM_000138.5(FBN1):c.6997+7A>G
NM_000138.5(FBN1):c.6997+8C>T
NM_000138.5(FBN1):c.6998-17T>C
NM_000138.5(FBN1):c.6998-22_6998-5del
NM_000138.5(FBN1):c.6998-40del rs193922229
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000138.5(FBN1):c.7003C>A (p.Arg2335=)
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=) rs1555394582
NM_000138.5(FBN1):c.702C>T (p.Gly234=)
NM_000138.5(FBN1):c.7032A>G (p.Leu2344=) rs2141229116
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) rs794728263
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=) rs772287755
NM_000138.5(FBN1):c.7051G>C (p.Gly2351Arg)
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.7074C>T (p.Val2358=)
NM_000138.5(FBN1):c.7149T>A (p.Thr2383=)
NM_000138.5(FBN1):c.7149T>G (p.Thr2383=)
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)
NM_000138.5(FBN1):c.7176T>C (p.His2392=)
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000138.5(FBN1):c.7204+15G>A
NM_000138.5(FBN1):c.7204+20A>G
NM_000138.5(FBN1):c.7205-10T>A
NM_000138.5(FBN1):c.7205-18A>G rs1555394451
NM_000138.5(FBN1):c.7205-18A>T
NM_000138.5(FBN1):c.7212T>C (p.Asp2404=) rs2141227085
NM_000138.5(FBN1):c.7227T>A (p.Ile2409=)
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418
NM_000138.5(FBN1):c.7239C>T (p.Cys2413=) rs2042975041
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7242A>C (p.Arg2414=)
NM_000138.5(FBN1):c.726A>T (p.Gly242=)
NM_000138.5(FBN1):c.7275T>C (p.Tyr2425=)
NM_000138.5(FBN1):c.7305A>G (p.Pro2435=) rs2042974267
NM_000138.5(FBN1):c.7309A>G (p.Ile2437Val)
NM_000138.5(FBN1):c.7317G>A (p.Gly2439=) rs766871786
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
NM_000138.5(FBN1):c.7330+11A>G
NM_000138.5(FBN1):c.7330+17G>A
NM_000138.5(FBN1):c.7331-16A>G
NM_000138.5(FBN1):c.7331-17T>C rs2141226524
NM_000138.5(FBN1):c.7335G>A (p.Leu2445=)
NM_000138.5(FBN1):c.7341G>A (p.Glu2447=) rs1437889689
NM_000138.5(FBN1):c.736+17G>A rs540588651
NM_000138.5(FBN1):c.737-17C>G
NM_000138.5(FBN1):c.737-19G>C
NM_000138.5(FBN1):c.737-19_737-16del rs748812494
NM_000138.5(FBN1):c.737-23_737-20del
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=) rs193922232
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=) rs1229985371
NM_000138.5(FBN1):c.7453+10A>C
NM_000138.5(FBN1):c.7453+15A>G
NM_000138.5(FBN1):c.7453+16C>A
NM_000138.5(FBN1):c.7454-10T>C
NM_000138.5(FBN1):c.7454-13C>G
NM_000138.5(FBN1):c.7454-17C>T
NM_000138.5(FBN1):c.7454-4G>T rs1365010331
NM_000138.5(FBN1):c.7464G>A (p.Glu2488=) rs1597513869
NM_000138.5(FBN1):c.7476G>A (p.Lys2492=) rs2141222576
NM_000138.5(FBN1):c.7503T>G (p.Val2501=)
NM_000138.5(FBN1):c.750C>T (p.Cys250=)
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=) rs374570475
NM_000138.5(FBN1):c.7524A>T (p.Thr2508=) rs201992942
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=) rs754992689
NM_000138.5(FBN1):c.7570+11G>C
NM_000138.5(FBN1):c.7570+20A>G
NM_000138.5(FBN1):c.7571-5C>G
NM_000138.5(FBN1):c.7578T>C (p.Asn2526=)
NM_000138.5(FBN1):c.7581A>G (p.Glu2527=) rs2141221997
NM_000138.5(FBN1):c.7608G>A (p.Gly2536=)
NM_000138.5(FBN1):c.7665A>G (p.Gly2555=) rs1597513298
NM_000138.5(FBN1):c.7668C>T (p.Phe2556=) rs2141221791
NM_000138.5(FBN1):c.7699+15C>T rs1280521883
NM_000138.5(FBN1):c.7699+18C>T rs753819758
NM_000138.5(FBN1):c.7699+20G>A
NM_000138.5(FBN1):c.7700-4T>G
NM_000138.5(FBN1):c.7700-7T>C
NM_000138.5(FBN1):c.7700-9C>G rs772261791
NM_000138.5(FBN1):c.7700-9C>T rs772261791
NM_000138.5(FBN1):c.7704G>T (p.Val2568=)
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=) rs748055037
NM_000138.5(FBN1):c.7728C>G (p.Arg2576=)
NM_000138.5(FBN1):c.7728C>T (p.Arg2576=) rs751226629
NM_000138.5(FBN1):c.7779C>G (p.Pro2593=)
NM_000138.5(FBN1):c.7788C>T (p.Tyr2596=) rs1555394142
NM_000138.5(FBN1):c.7791C>G (p.Leu2597=)
NM_000138.5(FBN1):c.7800C>T (p.Tyr2600=) rs1404133653
NM_000138.5(FBN1):c.7820-11T>C
NM_000138.5(FBN1):c.7820-17T>A
NM_000138.5(FBN1):c.7827C>T (p.Asn2609=)
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr) rs1280320763
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro) rs1280320763
NM_000138.5(FBN1):c.7842T>A (p.Ala2614=) rs764496589
NM_000138.5(FBN1):c.7851C>T (p.Cys2617=)
NM_000138.5(FBN1):c.7863C>T (p.Ser2621=) rs1342441428
NM_000138.5(FBN1):c.786C>T (p.Cys262=) rs1597591684
NM_000138.5(FBN1):c.789T>C (p.Ile263=) rs2141353743
NM_000138.5(FBN1):c.7905C>T (p.Ala2635=)
NM_000138.5(FBN1):c.7932A>T (p.Gly2644=) rs1597509710
NM_000138.5(FBN1):c.7962T>C (p.Ser2654=)
NM_000138.5(FBN1):c.7970C>T (p.Ala2657Val)
NM_000138.5(FBN1):c.8034C>T (p.Tyr2678=) rs1597509559
NM_000138.5(FBN1):c.8037C>T (p.Phe2679=)
NM_000138.5(FBN1):c.8051+10G>T rs1007432990
NM_000138.5(FBN1):c.8051+18T>C
NM_000138.5(FBN1):c.8052-10T>G
NM_000138.5(FBN1):c.8052-13C>T
NM_000138.5(FBN1):c.8052-14C>A
NM_000138.5(FBN1):c.8052-5T>C
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln) rs371375126
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=) rs1597507799
NM_000138.5(FBN1):c.8089C>A (p.Pro2697Thr)
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
NM_000138.5(FBN1):c.8103C>T (p.Val2701=) rs1340105891
NM_000138.5(FBN1):c.810G>A (p.Glu270=)
NM_000138.5(FBN1):c.8121C>T (p.Asp2707=) rs1566889147
NM_000138.5(FBN1):c.8136A>G (p.Pro2712=)
NM_000138.5(FBN1):c.8139G>A (p.Glu2713=) rs2141211689
NM_000138.5(FBN1):c.8140G>T (p.Ala2714Ser)
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=) rs112642323
NM_000138.5(FBN1):c.8157G>A (p.Lys2719=) rs2042872810
NM_000138.5(FBN1):c.816A>G (p.Lys272=)
NM_000138.5(FBN1):c.8181C>T (p.Gly2727=)
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.5(FBN1):c.819C>T (p.Cys273=)
NM_000138.5(FBN1):c.8222T>C (p.Ile2741Thr)
NM_000138.5(FBN1):c.8226+12G>A rs2141211477
NM_000138.5(FBN1):c.8227-12G>A
NM_000138.5(FBN1):c.8227-13T>C
NM_000138.5(FBN1):c.8227-5dup
NM_000138.5(FBN1):c.8227-6T>C rs1198254608
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8235T>C (p.Ser2745=)
NM_000138.5(FBN1):c.8247C>T (p.Ala2749=) rs1555393567
NM_000138.5(FBN1):c.8256T>C (p.Ser2752=) rs2141210112
NM_000138.5(FBN1):c.8277G>A (p.Glu2759=) rs1597506888
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) rs781352764
NM_000138.5(FBN1):c.8385C>A (p.Ile2795=) rs138574576
NM_000138.5(FBN1):c.846G>A (p.Val282=) rs2043994063
NM_000138.5(FBN1):c.8496T>C (p.Ser2832=) rs1216871823
NM_000138.5(FBN1):c.849A>G (p.Ser283=) rs2141353586
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala) rs1284038548
NM_000138.5(FBN1):c.8523A>T (p.Glu2841Asp)
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile) rs747213800
NM_000138.5(FBN1):c.8586G>A (p.Leu2862=) rs2042856515
NM_000138.5(FBN1):c.8601G>A (p.Gln2867=) rs2141209442
NM_000138.5(FBN1):c.862+13A>C rs2043993776
NM_000138.5(FBN1):c.862+14T>G
NM_000138.5(FBN1):c.863-10del rs748672558
NM_000138.5(FBN1):c.863-7A>G rs771131700
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp) rs778831047
NM_000138.5(FBN1):c.936T>C (p.Phe312=)
NM_000138.5(FBN1):c.948C>A (p.Pro316=)
NM_000138.5(FBN1):c.963C>G (p.Thr321=) rs767914958
NM_000138.5(FBN1):c.972T>C (p.Asp324=)
NM_000138.5(FBN1):c.988+13A>G
NM_000138.5(FBN1):c.988+14C>A
NM_000138.5(FBN1):c.988+16A>G
NM_000138.5(FBN1):c.988+16A>T
NM_000138.5(FBN1):c.988+16_988+26del
NM_000138.5(FBN1):c.988+20G>T rs375760654
NM_000138.5(FBN1):c.989-10T>A
NM_000138.5(FBN1):c.989-20A>G
NM_000138.5(FBN1):c.989-8G>A
NM_001032283.3(TMPO):c.105C>T (p.Asp35=)
NM_001032283.3(TMPO):c.108G>C (p.Val36=)
NM_001032283.3(TMPO):c.111C>T (p.Tyr37=) rs1299226116
NM_001032283.3(TMPO):c.114C>A (p.Val38=)
NM_001032283.3(TMPO):c.150G>A (p.Arg50=)
NM_001032283.3(TMPO):c.186C>T (p.Pro62=)
NM_001032283.3(TMPO):c.231C>T (p.Leu77=)
NM_001032283.3(TMPO):c.234C>G (p.Gly78=) rs753917997
NM_001032283.3(TMPO):c.234C>T (p.Gly78=) rs753917997
NM_001032283.3(TMPO):c.267A>T (p.Ala89=) rs1055056946
NM_001032283.3(TMPO):c.273C>A (p.Val91=)
NM_001032283.3(TMPO):c.279+14dup rs749108666
NM_001032283.3(TMPO):c.279+16C>T rs1010758415
NM_001032283.3(TMPO):c.279+17G>A
NM_001032283.3(TMPO):c.280-13A>G
NM_001032283.3(TMPO):c.280-13A>T
NM_001032283.3(TMPO):c.280-18A>G
NM_001032283.3(TMPO):c.280-4A>G
NM_001032283.3(TMPO):c.306C>T (p.Pro102=)
NM_001032283.3(TMPO):c.357T>G (p.Asp119Glu) rs765524061
NM_001032283.3(TMPO):c.36A>G (p.Thr12=)
NM_001032283.3(TMPO):c.399T>C (p.Pro133=)
NM_001032283.3(TMPO):c.407-4C>T
NM_001032283.3(TMPO):c.423A>G (p.Leu141=)
NM_001032283.3(TMPO):c.429G>A (p.Glu143=)
NM_001032283.3(TMPO):c.441G>A (p.Leu147=) rs2121195450
NM_001032283.3(TMPO):c.462A>G (p.Thr154=) rs2121195654
NM_001032283.3(TMPO):c.471A>G (p.Arg157=)
NM_001032283.3(TMPO):c.48G>A (p.Leu16=) rs2121092959
NM_001032283.3(TMPO):c.519G>A (p.Arg173=)
NM_001032283.3(TMPO):c.528A>G (p.Gly176=)
NM_001032283.3(TMPO):c.565+1007A>G
NM_001032283.3(TMPO):c.565+1106C>A rs757659026
NM_001032283.3(TMPO):c.565+1127C>G rs777779709
NM_001032283.3(TMPO):c.565+1127C>T rs777779709
NM_001032283.3(TMPO):c.565+1154T>C
NM_001032283.3(TMPO):c.565+1199C>T rs2121203040
NM_001032283.3(TMPO):c.565+1220G>A
NM_001032283.3(TMPO):c.565+1319C>T rs780889526
NM_001032283.3(TMPO):c.565+1334C>T
NM_001032283.3(TMPO):c.565+1382C>T rs2121204053
NM_001032283.3(TMPO):c.565+1448G>A rs1877328100
NM_001032283.3(TMPO):c.565+1532G>T
NM_001032283.3(TMPO):c.565+1613C>T
NM_001032283.3(TMPO):c.565+1637A>G
NM_001032283.3(TMPO):c.565+1688G>T rs577869374
NM_001032283.3(TMPO):c.565+1781C>T
NM_001032283.3(TMPO):c.565+1808T>C
NM_001032283.3(TMPO):c.565+1814C>G
NM_001032283.3(TMPO):c.565+1817T>C
NM_001032283.3(TMPO):c.565+1826C>T
NM_001032283.3(TMPO):c.565+1880C>A rs1351997207
NM_001032283.3(TMPO):c.565+1956C>T
NM_001032283.3(TMPO):c.565+1958G>A
NM_001032283.3(TMPO):c.565+1964A>C
NM_001032283.3(TMPO):c.565+19T>C
NM_001032283.3(TMPO):c.565+2099T>C
NM_001032283.3(TMPO):c.565+2135A>G rs1284474609
NM_001032283.3(TMPO):c.565+2180C>T
NM_001032283.3(TMPO):c.565+2192G>A
NM_001032283.3(TMPO):c.565+2210T>C
NM_001032283.3(TMPO):c.565+2219T>G
NM_001032283.3(TMPO):c.565+2222A>C
NM_001032283.3(TMPO):c.565+2261G>A rs373227285
NM_001032283.3(TMPO):c.565+2261G>C
NM_001032283.3(TMPO):c.565+2261G>T rs373227285
NM_001032283.3(TMPO):c.565+2271C>T
NM_001032283.3(TMPO):c.565+2297A>G
NM_001032283.3(TMPO):c.565+2300T>C
NM_001032283.3(TMPO):c.565+2315A>G
NM_001032283.3(TMPO):c.565+2339C>G rs749772850
NM_001032283.3(TMPO):c.565+2357C>T
NM_001032283.3(TMPO):c.565+2402T>C rs1592947011
NM_001032283.3(TMPO):c.565+2421C>T rs2121211142
NM_001032283.3(TMPO):c.565+2426T>C rs1877426910
NM_001032283.3(TMPO):c.565+9T>G
NM_001032283.3(TMPO):c.63C>A (p.Val21=)
NM_001032283.3(TMPO):c.66C>T (p.Ala22=) rs1875748424
NM_001999.4(FBN2):c.1014G>A (p.Val338=)
NM_001999.4(FBN2):c.1018A>G (p.Ser340Gly)
NM_001999.4(FBN2):c.1019G>A (p.Ser340Asn)
NM_001999.4(FBN2):c.102G>A (p.Pro34=)
NM_001999.4(FBN2):c.1053C>T (p.Thr351=) rs1554067080
NM_001999.4(FBN2):c.1078+10G>A
NM_001999.4(FBN2):c.1078+9C>G rs371692018
NM_001999.4(FBN2):c.1079-9C>T
NM_001999.4(FBN2):c.1119C>A (p.Gly373=) rs1554066145
NM_001999.4(FBN2):c.111G>C (p.Pro37=)
NM_001999.4(FBN2):c.1121G>A (p.Arg374His)
NM_001999.4(FBN2):c.115C>A (p.Arg39=) rs763202121
NM_001999.4(FBN2):c.117G>T (p.Arg39=)
NM_001999.4(FBN2):c.120C>T (p.Pro40=)
NM_001999.4(FBN2):c.1231+12G>A
NM_001999.4(FBN2):c.1231+15G>A
NM_001999.4(FBN2):c.1231+19G>A
NM_001999.4(FBN2):c.1232-6T>C rs1581260490
NM_001999.4(FBN2):c.1232-8T>C
NM_001999.4(FBN2):c.1236A>G (p.Glu412=)
NM_001999.4(FBN2):c.1241G>A (p.Arg414His)
NM_001999.4(FBN2):c.1275A>T (p.Gly425=)
NM_001999.4(FBN2):c.1281A>G (p.Pro427=)
NM_001999.4(FBN2):c.1295C>A (p.Ser432Tyr)
NM_001999.4(FBN2):c.132G>A (p.Pro44=) rs199702573
NM_001999.4(FBN2):c.132G>T (p.Pro44=)
NM_001999.4(FBN2):c.135A>G (p.Gln45=) rs1182394348
NM_001999.4(FBN2):c.1380C>T (p.Pro460=)
NM_001999.4(FBN2):c.1386T>C (p.Pro462=) rs778468050
NM_001999.4(FBN2):c.1398C>T (p.Gly466=) rs1554066010
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu) rs138046782
NM_001999.4(FBN2):c.1437G>A (p.Gly479=)
NM_001999.4(FBN2):c.1438G>A (p.Gly480Arg)
NM_001999.4(FBN2):c.1443G>A (p.Gln481=) rs923812426
NM_001999.4(FBN2):c.1452C>T (p.Ile484=)
NM_001999.4(FBN2):c.1458T>A (p.Thr486=)
NM_001999.4(FBN2):c.1465+17C>T
NM_001999.4(FBN2):c.1466-12A>G
NM_001999.4(FBN2):c.1466-17G>T rs2126977471
NM_001999.4(FBN2):c.1466-19G>T
NM_001999.4(FBN2):c.1466-5del
NM_001999.4(FBN2):c.1473G>C (p.Leu491=)
NM_001999.4(FBN2):c.147C>A (p.Ser49=)
NM_001999.4(FBN2):c.147C>T (p.Ser49=) rs1194404343
NM_001999.4(FBN2):c.1512T>G (p.Leu504=)
NM_001999.4(FBN2):c.1526G>A (p.Arg509His) rs199587570
NM_001999.4(FBN2):c.1537A>G (p.Thr513Ala)
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.1589A>G (p.Asn530Ser)
NM_001999.4(FBN2):c.1603+15C>G
NM_001999.4(FBN2):c.1603+19A>G
NM_001999.4(FBN2):c.1603+9G>C rs774984154
NM_001999.4(FBN2):c.1604-7C>T rs2126960298
NM_001999.4(FBN2):c.1604-8G>C
NM_001999.4(FBN2):c.1614A>G (p.Glu538=)
NM_001999.4(FBN2):c.162T>G (p.Ser54=)
NM_001999.4(FBN2):c.1644T>C (p.Asp548=)
NM_001999.4(FBN2):c.1662T>C (p.Gly554=) rs1400948280
NM_001999.4(FBN2):c.1686T>G (p.Ala562=) rs1581251758
NM_001999.4(FBN2):c.1723+12T>G
NM_001999.4(FBN2):c.1724-14C>A
NM_001999.4(FBN2):c.1759A>G (p.Lys587Glu)
NM_001999.4(FBN2):c.175C>T (p.Leu59=)
NM_001999.4(FBN2):c.1773C>T (p.Cys591=) rs763629454
NM_001999.4(FBN2):c.1797G>A (p.Gln599=)
NM_001999.4(FBN2):c.1849+20C>T
NM_001999.4(FBN2):c.189T>C (p.Tyr63=) rs1435288732
NM_001999.4(FBN2):c.1917C>T (p.Phe639=)
NM_001999.4(FBN2):c.1954A>C (p.Asn652His) rs749765413
NM_001999.4(FBN2):c.1954A>G (p.Asn652Asp)
NM_001999.4(FBN2):c.1959G>T (p.Gly653=)
NM_001999.4(FBN2):c.1960C>T (p.Arg654Cys)
NM_001999.4(FBN2):c.1972+10G>T
NM_001999.4(FBN2):c.1972+4TG[2]
NM_001999.4(FBN2):c.1973-8C>A
NM_001999.4(FBN2):c.1973-9A>T
NM_001999.4(FBN2):c.1990A>G (p.Thr664Ala) rs746408145
NM_001999.4(FBN2):c.1995A>G (p.Pro665=)
NM_001999.4(FBN2):c.2014C>T (p.His672Tyr)
NM_001999.4(FBN2):c.2042G>T (p.Arg681Leu) rs548605398
NM_001999.4(FBN2):c.2049C>T (p.Asp683=)
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr) rs141291125
NM_001999.4(FBN2):c.2060G>A (p.Gly687Asp)
NM_001999.4(FBN2):c.2095+8A>T
NM_001999.4(FBN2):c.2103C>T (p.His701=) rs148920354
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg) rs149733159
NM_001999.4(FBN2):c.216C>T (p.Ser72=)
NM_001999.4(FBN2):c.2187C>T (p.Cys729=)
NM_001999.4(FBN2):c.21G>A (p.Leu7=) rs1002853093
NM_001999.4(FBN2):c.2236G>A (p.Ala746Thr)
NM_001999.4(FBN2):c.2248+11G>C
NM_001999.4(FBN2):c.2249-15C>T
NM_001999.4(FBN2):c.2249-18T>C rs996601598
NM_001999.4(FBN2):c.2302+16C>A
NM_001999.4(FBN2):c.2302+9A>G
NM_001999.4(FBN2):c.2303-18T>G
NM_001999.4(FBN2):c.2340C>T (p.Ala780=) rs1060504935
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile) rs756348656
NM_001999.4(FBN2):c.2367T>C (p.Gly789=)
NM_001999.4(FBN2):c.2376T>C (p.Arg792=)
NM_001999.4(FBN2):c.2428+12G>T
NM_001999.4(FBN2):c.2428+18T>C rs775383249
NM_001999.4(FBN2):c.2429-17T>G
NM_001999.4(FBN2):c.2433T>A (p.Ile811=)
NM_001999.4(FBN2):c.2436T>C (p.Asp812=)
NM_001999.4(FBN2):c.2439A>G (p.Glu813=) rs1581241374
NM_001999.4(FBN2):c.2457G>A (p.Leu819=) rs370465689
NM_001999.4(FBN2):c.2466T>C (p.Asp822=)
NM_001999.4(FBN2):c.2473T>C (p.Leu825=)
NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)
NM_001999.4(FBN2):c.2487G>A (p.Thr829=) rs779455710
NM_001999.4(FBN2):c.251G>C (p.Arg84Pro)
NM_001999.4(FBN2):c.254+10C>G
NM_001999.4(FBN2):c.254+14C>G
NM_001999.4(FBN2):c.254+20C>G
NM_001999.4(FBN2):c.2555-20C>G
NM_001999.4(FBN2):c.2556T>C (p.Asp852=) rs2126931519
NM_001999.4(FBN2):c.2572A>G (p.Ser858Gly)
NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)
NM_001999.4(FBN2):c.2592G>A (p.Gly864=)
NM_001999.4(FBN2):c.2621A>G (p.Asn874Ser)
NM_001999.4(FBN2):c.2631T>C (p.Cys877=)
NM_001999.4(FBN2):c.2633C>T (p.Ser878Leu)
NM_001999.4(FBN2):c.2634G>T (p.Ser878=) rs143905167
NM_001999.4(FBN2):c.2646A>G (p.Lys882=) rs1035674949
NM_001999.4(FBN2):c.264G>T (p.Val88=) rs1167442198
NM_001999.4(FBN2):c.2674+9del rs2126931306
NM_001999.4(FBN2):c.2675-20C>T
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_001999.4(FBN2):c.2694T>C (p.Cys898=)
NM_001999.4(FBN2):c.2736T>C (p.Asn912=) rs760088310
NM_001999.4(FBN2):c.2740G>T (p.Ala914Ser) rs370312107
NM_001999.4(FBN2):c.2787G>A (p.Gly929=)
NM_001999.4(FBN2):c.2812+14T>C
NM_001999.4(FBN2):c.2812+9C>A rs751293821
NM_001999.4(FBN2):c.282C>T (p.His94=)
NM_001999.4(FBN2):c.2839A>C (p.Arg947=) rs752949752
NM_001999.4(FBN2):c.2856G>A (p.Thr952=) rs556038110
NM_001999.4(FBN2):c.2863+9A>G
NM_001999.4(FBN2):c.2864-15T>C
NM_001999.4(FBN2):c.2864-19T>G rs2126919979
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.2886C>T (p.Phe962=) rs972172170
NM_001999.4(FBN2):c.2909G>A (p.Arg970His) rs368402648
NM_001999.4(FBN2):c.2925G>A (p.Lys975=)
NM_001999.4(FBN2):c.2931T>C (p.Ser977=)
NM_001999.4(FBN2):c.2961G>A (p.Thr987=) rs760390469
NM_001999.4(FBN2):c.2977C>T (p.Arg993Cys) rs752905724
NM_001999.4(FBN2):c.2989+13C>A
NM_001999.4(FBN2):c.2990-7G>C rs1245936560
NM_001999.4(FBN2):c.2993T>A (p.Ile998Asn)
NM_001999.4(FBN2):c.2994T>A (p.Ile998=)
NM_001999.4(FBN2):c.2997C>T (p.Arg999=) rs1751155993
NM_001999.4(FBN2):c.3012C>T (p.Tyr1004=)
NM_001999.4(FBN2):c.3018G>A (p.Lys1006=)
NM_001999.4(FBN2):c.3045C>G (p.Pro1015=) rs371640952
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3093G>C (p.Ala1031=) rs528529593
NM_001999.4(FBN2):c.309G>T (p.Thr103=)
NM_001999.4(FBN2):c.3128C>A (p.Pro1043His)
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln) rs771853346
NM_001999.4(FBN2):c.3147G>A (p.Glu1049=) rs1356177204
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His) rs753760095
NM_001999.4(FBN2):c.3161G>T (p.Arg1054Leu) rs753760095
NM_001999.4(FBN2):c.3162C>A (p.Arg1054=)
NM_001999.4(FBN2):c.3198T>G (p.Thr1066=) rs2126913781
NM_001999.4(FBN2):c.3202C>T (p.Arg1068Trp)
NM_001999.4(FBN2):c.3203G>A (p.Arg1068Gln) rs563921589
NM_001999.4(FBN2):c.3207A>G (p.Pro1069=)
NM_001999.4(FBN2):c.3217+12C>T
NM_001999.4(FBN2):c.3217+13G>C rs572013507
NM_001999.4(FBN2):c.3217+19C>T
NM_001999.4(FBN2):c.3217+8C>A rs1554123700
NM_001999.4(FBN2):c.3218-13A>T rs200543836
NM_001999.4(FBN2):c.3218-4T>C
NM_001999.4(FBN2):c.3219C>T (p.Asp1073=)
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=) rs1345516642
NM_001999.4(FBN2):c.3246G>A (p.Gly1082=)
NM_001999.4(FBN2):c.3285C>T (p.Ser1095=)
NM_001999.4(FBN2):c.3343+12C>G
NM_001999.4(FBN2):c.3343+12C>T rs2126911962
NM_001999.4(FBN2):c.3344-12C>T
NM_001999.4(FBN2):c.3344-13C>A
NM_001999.4(FBN2):c.3344-6A>T
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys) rs1348701377
NM_001999.4(FBN2):c.3367C>T (p.Pro1123Ser) rs764719151
NM_001999.4(FBN2):c.337+12G>T rs2112809114
NM_001999.4(FBN2):c.3372C>T (p.Asp1124=)
NM_001999.4(FBN2):c.338-18C>T
NM_001999.4(FBN2):c.338-4A>G rs1756678272
NM_001999.4(FBN2):c.3384T>C (p.Ser1128=)
NM_001999.4(FBN2):c.3387A>G (p.Gly1129=)
NM_001999.4(FBN2):c.3390C>A (p.Ile1130=)
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3472+9C>T rs372520452
NM_001999.4(FBN2):c.3473-15G>A
NM_001999.4(FBN2):c.3473-16C>T
NM_001999.4(FBN2):c.3474C>T (p.Asp1158=)
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.3489A>C (p.Glu1163Asp)
NM_001999.4(FBN2):c.3501C>G (p.Leu1167=) rs2126902161
NM_001999.4(FBN2):c.3570G>A (p.Glu1190=) rs2126902008
NM_001999.4(FBN2):c.3599-13G>T
NM_001999.4(FBN2):c.360A>T (p.Gly120=)
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
NM_001999.4(FBN2):c.3690A>T (p.Gly1230=) rs774807410
NM_001999.4(FBN2):c.36C>T (p.Tyr12=) rs1581380471
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3711C>T (p.Arg1237=)
NM_001999.4(FBN2):c.3725-18G>T
NM_001999.4(FBN2):c.3783G>C (p.Glu1261Asp)
NM_001999.4(FBN2):c.382A>G (p.Asn128Asp)
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.3849C>T (p.Asp1283=) rs983684093
NM_001999.4(FBN2):c.3866A>G (p.Asn1289Ser)
NM_001999.4(FBN2):c.3885T>C (p.Asp1295=)
NM_001999.4(FBN2):c.3888C>T (p.Gly1296=)
NM_001999.4(FBN2):c.3900C>A (p.Thr1300=)
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=) rs754193286
NM_001999.4(FBN2):c.3909T>C (p.Pro1303=)
NM_001999.4(FBN2):c.3973+17A>G
NM_001999.4(FBN2):c.3973+7A>G
NM_001999.4(FBN2):c.3974-19T>A rs112950479
NM_001999.4(FBN2):c.4002T>C (p.Asn1334=) rs759408247
NM_001999.4(FBN2):c.4017G>A (p.Gly1339=)
NM_001999.4(FBN2):c.4032A>G (p.Thr1344=)
NM_001999.4(FBN2):c.4038A>T (p.Gly1346=)
NM_001999.4(FBN2):c.4044C>T (p.Phe1348=)
NM_001999.4(FBN2):c.4089A>C (p.Thr1363=)
NM_001999.4(FBN2):c.4099+12G>A
NM_001999.4(FBN2):c.4099+7T>G rs1750789192
NM_001999.4(FBN2):c.4100-11T>C
NM_001999.4(FBN2):c.4100-19A>G
NM_001999.4(FBN2):c.4100-19A>T rs200803675
NM_001999.4(FBN2):c.4100-6T>C
NM_001999.4(FBN2):c.4100-8T>C
NM_001999.4(FBN2):c.411A>G (p.Ile137Met)
NM_001999.4(FBN2):c.4147T>C (p.Ser1383Pro)
NM_001999.4(FBN2):c.4149A>G (p.Ser1383=)
NM_001999.4(FBN2):c.4203A>G (p.Gly1401=)
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn) rs1478574969
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=) rs138289440
NM_001999.4(FBN2):c.4254G>A (p.Gln1418=)
NM_001999.4(FBN2):c.4276G>A (p.Val1426Ile)
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=) rs2126889007
NM_001999.4(FBN2):c.4323T>C (p.Thr1441=)
NM_001999.4(FBN2):c.4345+19G>A rs886038503
NM_001999.4(FBN2):c.4346-16T>A
NM_001999.4(FBN2):c.436+13C>T
NM_001999.4(FBN2):c.437-12T>C
NM_001999.4(FBN2):c.4397T>G (p.Leu1466Arg)
NM_001999.4(FBN2):c.4404C>T (p.Val1468=)
NM_001999.4(FBN2):c.4410T>G (p.Gly1470=)
NM_001999.4(FBN2):c.4413A>G (p.Ala1471=)
NM_001999.4(FBN2):c.4423G>A (p.Glu1475Lys)
NM_001999.4(FBN2):c.4442C>T (p.Thr1481Ile)
NM_001999.4(FBN2):c.4471+9C>A
NM_001999.4(FBN2):c.4472-18T>A rs200285828
NM_001999.4(FBN2):c.4472-18T>G
NM_001999.4(FBN2):c.4472-19T>A
NM_001999.4(FBN2):c.4472-7T>C
NM_001999.4(FBN2):c.4545C>T (p.Cys1515=) rs1348263135
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=) rs1434367982
NM_001999.4(FBN2):c.4573A>G (p.Arg1525Gly)
NM_001999.4(FBN2):c.4584G>A (p.Gly1528=) rs1554121089
NM_001999.4(FBN2):c.4590T>C (p.Cys1530=) rs1581212624
NM_001999.4(FBN2):c.4595-4C>A
NM_001999.4(FBN2):c.4620A>C (p.Ile1540=)
NM_001999.4(FBN2):c.4659C>T (p.Arg1553=)
NM_001999.4(FBN2):c.4665G>A (p.Glu1555=)
NM_001999.4(FBN2):c.4674C>T (p.Cys1558=)
NM_001999.4(FBN2):c.4677A>G (p.Pro1559=) rs1581212135
NM_001999.4(FBN2):c.4710T>C (p.Gly1570=)
NM_001999.4(FBN2):c.4718-6C>T
NM_001999.4(FBN2):c.471G>A (p.Gly157=)
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4767G>T (p.Gly1589=) rs1750089730
NM_001999.4(FBN2):c.4771C>G (p.Leu1591Val)
NM_001999.4(FBN2):c.4773G>A (p.Leu1591=) rs753387547
NM_001999.4(FBN2):c.4815A>C (p.Ser1605=) rs377657220
NM_001999.4(FBN2):c.4828C>T (p.Leu1610=)
NM_001999.4(FBN2):c.4863C>T (p.Cys1621=)
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser) rs139830237
NM_001999.4(FBN2):c.4879+12G>A
NM_001999.4(FBN2):c.4879+16A>G rs2126847534
NM_001999.4(FBN2):c.4880-12A>G rs376111927
NM_001999.4(FBN2):c.4880-14C>G
NM_001999.4(FBN2):c.4896G>A (p.Leu1632=)
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.4948+15T>C
NM_001999.4(FBN2):c.4949-12C>T
NM_001999.4(FBN2):c.4949-17T>C rs2126846281
NM_001999.4(FBN2):c.4949-19A>C
NM_001999.4(FBN2):c.4949-6T>C
NM_001999.4(FBN2):c.4971A>G (p.Leu1657=)
NM_001999.4(FBN2):c.4980C>T (p.Leu1660=)
NM_001999.4(FBN2):c.4986G>A (p.Gln1662=) rs1554120357
NM_001999.4(FBN2):c.5052C>T (p.Ser1684=)
NM_001999.4(FBN2):c.5068T>C (p.Cys1690Arg) rs141401126
NM_001999.4(FBN2):c.5074+12T>A
NM_001999.4(FBN2):c.5075-10C>G
NM_001999.4(FBN2):c.5075-19A>T
NM_001999.4(FBN2):c.5075-20_5075-17del
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=) rs1284156837
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5201-17dup
NM_001999.4(FBN2):c.5201-19T>G
NM_001999.4(FBN2):c.5201-20C>A
NM_001999.4(FBN2):c.5257T>C (p.Leu1753=)
NM_001999.4(FBN2):c.528A>G (p.Gly176=)
NM_001999.4(FBN2):c.5307C>A (p.Gly1769=) rs755781072
NM_001999.4(FBN2):c.532+16T>G
NM_001999.4(FBN2):c.533-14A>G
NM_001999.4(FBN2):c.533-4G>A
NM_001999.4(FBN2):c.5337C>T (p.Cys1779=) rs1307268596
NM_001999.4(FBN2):c.533C>T (p.Pro178Leu)
NM_001999.4(FBN2):c.5346A>G (p.Pro1782=) rs2126842864
NM_001999.4(FBN2):c.5353+10C>A rs113589974
NM_001999.4(FBN2):c.5353+15C>A
NM_001999.4(FBN2):c.5353+16G>C
NM_001999.4(FBN2):c.5354-4A>G rs2126840686
NM_001999.4(FBN2):c.5392A>G (p.Thr1798Ala)
NM_001999.4(FBN2):c.5422+11C>T
NM_001999.4(FBN2):c.5422+14G>A
NM_001999.4(FBN2):c.5422+20G>A
NM_001999.4(FBN2):c.5423-18A>C
NM_001999.4(FBN2):c.5423-18A>G
NM_001999.4(FBN2):c.5472C>T (p.Cys1824=) rs1385121154
NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)
NM_001999.4(FBN2):c.5549-8T>C
NM_001999.4(FBN2):c.5550T>C (p.Asp1850=)
NM_001999.4(FBN2):c.5593G>T (p.Ala1865Ser) rs200681872
NM_001999.4(FBN2):c.5595A>T (p.Ala1865=) rs1749846586
NM_001999.4(FBN2):c.5623C>T (p.Arg1875Cys)
NM_001999.4(FBN2):c.5674+12G>A
NM_001999.4(FBN2):c.5674+8A>G rs2126838714
NM_001999.4(FBN2):c.5675-14T>A
NM_001999.4(FBN2):c.5675-17A>G
NM_001999.4(FBN2):c.5675-18del
NM_001999.4(FBN2):c.5700T>C (p.Pro1900=)
NM_001999.4(FBN2):c.5718C>T (p.Gly1906=)
NM_001999.4(FBN2):c.573C>A (p.Ile191=)
NM_001999.4(FBN2):c.5744A>T (p.Tyr1915Phe)
NM_001999.4(FBN2):c.5745C>T (p.Tyr1915=)
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=) rs1554119714
NM_001999.4(FBN2):c.5775T>C (p.Ala1925=)
NM_001999.4(FBN2):c.579C>G (p.Pro193=)
NM_001999.4(FBN2):c.5800+16G>A
NM_001999.4(FBN2):c.5800+20C>T rs1554119695
NM_001999.4(FBN2):c.5800+9G>A
NM_001999.4(FBN2):c.5801-18G>T
NM_001999.4(FBN2):c.5801-5T>G rs571282132
NM_001999.4(FBN2):c.5805T>C (p.Val1935=) rs777941578
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp) rs755672868
NM_001999.4(FBN2):c.584G>A (p.Arg195His) rs746890032
NM_001999.4(FBN2):c.5868C>T (p.Asn1956=)
NM_001999.4(FBN2):c.5871T>C (p.Cys1957=)
NM_001999.4(FBN2):c.5886G>C (p.Gly1962=) rs747408641
NM_001999.4(FBN2):c.5889T>C (p.Phe1963=) rs1554119526
NM_001999.4(FBN2):c.5895C>G (p.Leu1965=) rs1581201379
NM_001999.4(FBN2):c.5898T>C (p.Thr1966=) rs2126835924
NM_001999.4(FBN2):c.5917+10T>G
NM_001999.4(FBN2):c.5917+20C>T
NM_001999.4(FBN2):c.5918-13T>C
NM_001999.4(FBN2):c.5918-20A>G
NM_001999.4(FBN2):c.5971T>C (p.Phe1991Leu)
NM_001999.4(FBN2):c.5976T>C (p.Asn1992=) rs1749717202
NM_001999.4(FBN2):c.6046+10T>C rs1179452976
NM_001999.4(FBN2):c.6046+16A>G
NM_001999.4(FBN2):c.6047-13T>C
NM_001999.4(FBN2):c.6071C>A (p.Pro2024His)
NM_001999.4(FBN2):c.60G>C (p.Val20=)
NM_001999.4(FBN2):c.6147A>G (p.Val2049=)
NM_001999.4(FBN2):c.6154G>A (p.Glu2052Lys)
NM_001999.4(FBN2):c.6167-12C>T
NM_001999.4(FBN2):c.6167-13_6167-11del rs1749326713
NM_001999.4(FBN2):c.6167-15C>A rs1749327059
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6195C>T (p.Asn2065=)
NM_001999.4(FBN2):c.6231G>A (p.Gly2077=)
NM_001999.4(FBN2):c.6270T>C (p.Ser2090=) rs2126822027
NM_001999.4(FBN2):c.628+20T>G
NM_001999.4(FBN2):c.628+8G>A
NM_001999.4(FBN2):c.6281G>A (p.Arg2094Gln)
NM_001999.4(FBN2):c.6282G>T (p.Arg2094=)
NM_001999.4(FBN2):c.629-11C>T rs2127084540
NM_001999.4(FBN2):c.629-15T>G
NM_001999.4(FBN2):c.629-26TCTT[4] rs778383061
NM_001999.4(FBN2):c.6292+11G>C
NM_001999.4(FBN2):c.6292+17C>G
NM_001999.4(FBN2):c.6292+17C>T rs776362563
NM_001999.4(FBN2):c.6293-13C>A
NM_001999.4(FBN2):c.63C>G (p.Leu21=) rs2112811119
NM_001999.4(FBN2):c.6424C>T (p.Leu2142=) rs2126821243
NM_001999.4(FBN2):c.6426G>A (p.Leu2142=) rs2126821236
NM_001999.4(FBN2):c.6426G>C (p.Leu2142=) rs2126821236
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly) rs760548036
NM_001999.4(FBN2):c.6445+14C>T
NM_001999.4(FBN2):c.6445+7G>T
NM_001999.4(FBN2):c.6446-12T>G
NM_001999.4(FBN2):c.6446-15T>C
NM_001999.4(FBN2):c.6446-4G>C
NM_001999.4(FBN2):c.6446-8C>A rs2126820462
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala) rs191065419
NM_001999.4(FBN2):c.6456G>A (p.Gln2152=)
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594
NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)
NM_001999.4(FBN2):c.6506G>A (p.Arg2169His)
NM_001999.4(FBN2):c.6512-11C>A rs759648926
NM_001999.4(FBN2):c.6512-11C>T rs759648926
NM_001999.4(FBN2):c.6512-8T>A rs2126819626
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn) rs1244642553
NM_001999.4(FBN2):c.6637+8T>C rs780697390
NM_001999.4(FBN2):c.6638-13T>A
NM_001999.4(FBN2):c.6638-15_6638-13del rs756212920
NM_001999.4(FBN2):c.6638-19T>C rs2126818779
NM_001999.4(FBN2):c.6638-9_6638-7del rs754187604
NM_001999.4(FBN2):c.6678T>C (p.Gly2226=) rs2126818668
NM_001999.4(FBN2):c.6693T>C (p.Val2231=) rs1554118051
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser) rs863223612
NM_001999.4(FBN2):c.6757+8A>T
NM_001999.4(FBN2):c.6757+9T>C
NM_001999.4(FBN2):c.6758-12del rs757126046
NM_001999.4(FBN2):c.676C>G (p.Gln226Glu)
NM_001999.4(FBN2):c.6777G>A (p.Gln2259=)
NM_001999.4(FBN2):c.677A>G (p.Gln226Arg)
NM_001999.4(FBN2):c.6783A>C (p.Pro2261=) rs1561749096
NM_001999.4(FBN2):c.6786G>T (p.Leu2262=)
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.685C>T (p.Leu229=) rs200698449
NM_001999.4(FBN2):c.6880+16C>T
NM_001999.4(FBN2):c.6880+19G>T
NM_001999.4(FBN2):c.6881-13T>C
NM_001999.4(FBN2):c.6881-19T>A
NM_001999.4(FBN2):c.6881-4C>G
NM_001999.4(FBN2):c.6903G>A (p.Gly2301=)
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=) rs886039130
NM_001999.4(FBN2):c.6908A>G (p.His2303Arg)
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6972T>A (p.Pro2324=)
NM_001999.4(FBN2):c.6972T>C (p.Pro2324=) rs1581188714
NM_001999.4(FBN2):c.6972T>G (p.Pro2324=)
NM_001999.4(FBN2):c.6975T>C (p.Pro2325=)
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu) rs370804151
NM_001999.4(FBN2):c.6993C>T (p.Pro2331=) rs368234173
NM_001999.4(FBN2):c.6999A>C (p.Gly2333=)
NM_001999.4(FBN2):c.7012+13G>A
NM_001999.4(FBN2):c.7012+18G>T
NM_001999.4(FBN2):c.7012+7G>C rs199735209
NM_001999.4(FBN2):c.7012+8G>A rs1422660066
NM_001999.4(FBN2):c.7013-5del
NM_001999.4(FBN2):c.7013-7T>C
NM_001999.4(FBN2):c.705G>A (p.Thr235=)
NM_001999.4(FBN2):c.705G>T (p.Thr235=)
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys) rs771718967
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr) rs771718967
NM_001999.4(FBN2):c.7128T>C (p.Thr2376=) rs1765497836
NM_001999.4(FBN2):c.714G>C (p.Leu238=)
NM_001999.4(FBN2):c.7155C>T (p.Leu2385=)
NM_001999.4(FBN2):c.7158C>T (p.Cys2386=) rs759522946
NM_001999.4(FBN2):c.7161T>C (p.Phe2387=)
NM_001999.4(FBN2):c.7170A>T (p.Val2390=)
NM_001999.4(FBN2):c.7204C>T (p.Arg2402Cys)
NM_001999.4(FBN2):c.7260C>T (p.His2420=) rs775251012
NM_001999.4(FBN2):c.7278A>G (p.Pro2426=) rs773011673
NM_001999.4(FBN2):c.7288A>G (p.Thr2430Ala)
NM_001999.4(FBN2):c.7345+10T>C
NM_001999.4(FBN2):c.7345+9T>A
NM_001999.4(FBN2):c.7346-17G>T
NM_001999.4(FBN2):c.7346-8G>A rs2126808910
NM_001999.4(FBN2):c.736G>A (p.Ala246Thr) rs141088981
NM_001999.4(FBN2):c.737C>T (p.Ala246Val)
NM_001999.4(FBN2):c.738G>T (p.Ala246=)
NM_001999.4(FBN2):c.7392G>A (p.Gln2464=)
NM_001999.4(FBN2):c.7404C>G (p.Thr2468=)
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln) rs28763925
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.7428C>T (p.Cys2476=) rs2126808790
NM_001999.4(FBN2):c.7464T>C (p.Ser2488=) rs1765435027
NM_001999.4(FBN2):c.7467T>C (p.Cys2489=)
NM_001999.4(FBN2):c.7468A>G (p.Ile2490Val)
NM_001999.4(FBN2):c.7495C>A (p.Pro2499Thr)
NM_001999.4(FBN2):c.7539T>C (p.Tyr2513=) rs1581181343
NM_001999.4(FBN2):c.7560G>C (p.Gly2520=)
NM_001999.4(FBN2):c.7567C>T (p.Leu2523=) rs2126807268
NM_001999.4(FBN2):c.7594+14C>T
NM_001999.4(FBN2):c.7595-12C>G
NM_001999.4(FBN2):c.7595-14C>G
NM_001999.4(FBN2):c.7595-15T>C
NM_001999.4(FBN2):c.7595-17C>A rs1353897134
NM_001999.4(FBN2):c.7611A>G (p.Gln2537=)
NM_001999.4(FBN2):c.7650C>T (p.Thr2550=)
NM_001999.4(FBN2):c.7656G>A (p.Gly2552=) rs982288060
NM_001999.4(FBN2):c.7656G>T (p.Gly2552=)
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala) rs764514988
NM_001999.4(FBN2):c.7698C>A (p.His2566Gln)
NM_001999.4(FBN2):c.7704T>C (p.Ala2568=) rs778549338
NM_001999.4(FBN2):c.7712-8T>G
NM_001999.4(FBN2):c.7758A>C (p.Gly2586=) rs1765323936
NM_001999.4(FBN2):c.7773T>C (p.Thr2591=) rs1554116608
NM_001999.4(FBN2):c.7818T>C (p.Asp2606=)
NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)
NM_001999.4(FBN2):c.7840+10T>C
NM_001999.4(FBN2):c.7841-14G>A rs751308498
NM_001999.4(FBN2):c.78G>C (p.Thr26=) rs1265112696
NM_001999.4(FBN2):c.78G>T (p.Thr26=)
NM_001999.4(FBN2):c.7906A>C (p.Arg2636=)
NM_001999.4(FBN2):c.7914C>T (p.Gly2638=)
NM_001999.4(FBN2):c.795C>T (p.Phe265=)
NM_001999.4(FBN2):c.7A>C (p.Arg3=) rs1466844222
NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)
NM_001999.4(FBN2):c.8016C>A (p.Thr2672=)
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser) rs763870762
NM_001999.4(FBN2):c.8040C>T (p.Cys2680=)
NM_001999.4(FBN2):c.8049G>T (p.Gly2683=) rs138044126
NM_001999.4(FBN2):c.8058C>T (p.Phe2686=) rs150734807
NM_001999.4(FBN2):c.8061C>T (p.Asp2687=)
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr) rs771008563
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8082C>T (p.His2694=) rs142755118
NM_001999.4(FBN2):c.8083G>A (p.Asp2695Asn)
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.4(FBN2):c.8100G>A (p.Ser2700=)
NM_001999.4(FBN2):c.8100G>C (p.Ser2700=) rs138659121
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=) rs141841206
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met) rs754101758
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8164C>T (p.Pro2722Ser)
NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)
NM_001999.4(FBN2):c.8192+20C>T
NM_001999.4(FBN2):c.8192+7C>A rs376135657
NM_001999.4(FBN2):c.8193-9T>G
NM_001999.4(FBN2):c.81C>A (p.Ala27=)
NM_001999.4(FBN2):c.8251G>A (p.Val2751Ile)
NM_001999.4(FBN2):c.826+18C>G
NM_001999.4(FBN2):c.827-10C>T
NM_001999.4(FBN2):c.827-13T>G
NM_001999.4(FBN2):c.827-4G>A
NM_001999.4(FBN2):c.8270T>A (p.Leu2757Gln)
NM_001999.4(FBN2):c.8313T>C (p.Ser2771=)
NM_001999.4(FBN2):c.8322C>T (p.Asp2774=) rs1554115402
NM_001999.4(FBN2):c.8327G>A (p.Arg2776Lys)
NM_001999.4(FBN2):c.8331G>A (p.Gln2777=)
NM_001999.4(FBN2):c.834T>C (p.Asp278=) rs2127056960
NM_001999.4(FBN2):c.8359A>G (p.Thr2787Ala)
NM_001999.4(FBN2):c.8364+17C>T
NM_001999.4(FBN2):c.8364+7A>G rs185052980
NM_001999.4(FBN2):c.8364+8T>C rs1554115371
NM_001999.4(FBN2):c.8365-17T>G
NM_001999.4(FBN2):c.8365-4C>G rs878854480
NM_001999.4(FBN2):c.8379C>T (p.Ser2793=)
NM_001999.4(FBN2):c.837A>G (p.Glu279=) rs2127056950
NM_001999.4(FBN2):c.8391C>G (p.Val2797=)
NM_001999.4(FBN2):c.8392G>A (p.Asp2798Asn)
NM_001999.4(FBN2):c.8430C>A (p.Ser2810=)
NM_001999.4(FBN2):c.8493C>T (p.His2831=)
NM_001999.4(FBN2):c.8495T>A (p.Ile2832Asn)
NM_001999.4(FBN2):c.8499T>G (p.Arg2833=)
NM_001999.4(FBN2):c.84C>A (p.Gly28=)
NM_001999.4(FBN2):c.8508C>T (p.Ile2836=) rs1764914729
NM_001999.4(FBN2):c.8517G>C (p.Gly2839=) rs1764914519
NM_001999.4(FBN2):c.8529C>T (p.Ser2843=)
NM_001999.4(FBN2):c.8536C>T (p.Arg2846Cys)
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu) rs200345491
NM_001999.4(FBN2):c.8543A>G (p.His2848Arg) rs1291203524
NM_001999.4(FBN2):c.8544C>T (p.His2848=)
NM_001999.4(FBN2):c.8584A>C (p.Lys2862Gln)
NM_001999.4(FBN2):c.8585A>C (p.Lys2862Thr)
NM_001999.4(FBN2):c.8587C>T (p.Leu2863Phe)
NM_001999.4(FBN2):c.8589C>T (p.Leu2863=) rs886038784
NM_001999.4(FBN2):c.8607A>G (p.Thr2869=)
NM_001999.4(FBN2):c.8639A>G (p.Lys2880Arg) rs1367710207
NM_001999.4(FBN2):c.8664G>C (p.Glu2888Asp)
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn) rs748874308
NM_001999.4(FBN2):c.8688A>G (p.Leu2896=) rs1194973560
NM_001999.4(FBN2):c.8703G>A (p.Glu2901=) rs1374026282
NM_001999.4(FBN2):c.8734T>C (p.Tyr2912His)
NM_001999.4(FBN2):c.89C>T (p.Pro30Leu)
NM_001999.4(FBN2):c.924A>G (p.Lys308=)
NM_001999.4(FBN2):c.952+14C>G
NM_001999.4(FBN2):c.952+7CT[2] rs750915525
NM_001999.4(FBN2):c.953-10C>T rs2127000191
NM_001999.4(FBN2):c.953-14C>T
NM_001999.4(FBN2):c.953-18_953-16del
NM_001999.4(FBN2):c.953-9del rs757659311
NM_001999.4(FBN2):c.960T>C (p.Asp320=) rs1581270421
NM_001999.4(FBN2):c.969C>T (p.Ser323=) rs1554067083
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu) rs377336741
NM_003036.4(SKI):c.1035G>A (p.Ala345=)
NM_003036.4(SKI):c.1041C>G (p.Ser347=)
NM_003036.4(SKI):c.1056G>A (p.Pro352=)
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
NM_003036.4(SKI):c.1068G>T (p.Leu356=) rs1057523408
NM_003036.4(SKI):c.1095+10G>A
NM_003036.4(SKI):c.1095+11G>A
NM_003036.4(SKI):c.1095+17C>T
NM_003036.4(SKI):c.1095+20G>T
NM_003036.4(SKI):c.1101G>T (p.Leu367=) rs1411024116
NM_003036.4(SKI):c.1104C>T (p.Gly368=)
NM_003036.4(SKI):c.111T>C (p.Ala37=) rs2100789581
NM_003036.4(SKI):c.1125C>A (p.Arg375=)
NM_003036.4(SKI):c.1128C>A (p.Leu376=)
NM_003036.4(SKI):c.1149C>G (p.Ser383=)
NM_003036.4(SKI):c.1152C>G (p.Pro384=) rs200160702
NM_003036.4(SKI):c.117G>C (p.Ser39=)
NM_003036.4(SKI):c.1185A>G (p.Pro395=)
NM_003036.4(SKI):c.1194G>A (p.Pro398=)
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003036.4(SKI):c.1211+8G>C rs1411361590
NM_003036.4(SKI):c.1211+9G>T
NM_003036.4(SKI):c.1212-16C>T
NM_003036.4(SKI):c.1212-6C>T rs752765206
NM_003036.4(SKI):c.1212-7C>T
NM_003036.4(SKI):c.1230C>T (p.Ser410=)
NM_003036.4(SKI):c.123C>T (p.Arg41=)
NM_003036.4(SKI):c.1248G>A (p.Ala416=) rs768317594
NM_003036.4(SKI):c.1248G>T (p.Ala416=)
NM_003036.4(SKI):c.1293C>T (p.Ser431=) rs2100918389
NM_003036.4(SKI):c.1308C>A (p.Ala436=)
NM_003036.4(SKI):c.1308C>G (p.Ala436=) rs139034124
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
NM_003036.4(SKI):c.1326C>T (p.Ala442=)
NM_003036.4(SKI):c.1350C>T (p.Thr450=)
NM_003036.4(SKI):c.138C>G (p.Ala46=) rs745527890
NM_003036.4(SKI):c.1410C>A (p.Pro470=)
NM_003036.4(SKI):c.1419C>T (p.Ala473=) rs748183781
NM_003036.4(SKI):c.1449G>A (p.Glu483=)
NM_003036.4(SKI):c.144G>A (p.Lys48=)
NM_003036.4(SKI):c.1474+14G>A rs780072344
NM_003036.4(SKI):c.1474+19C>G rs2100919153
NM_003036.4(SKI):c.1474+7del rs1640502180
NM_003036.4(SKI):c.1475-17C>T
NM_003036.4(SKI):c.1479C>T (p.Thr493=) rs754922214
NM_003036.4(SKI):c.1482C>T (p.Ser494=)
NM_003036.4(SKI):c.1514C>T (p.Thr505Ile)
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
NM_003036.4(SKI):c.1539G>T (p.Leu513=)
NM_003036.4(SKI):c.1566C>G (p.Pro522=)
NM_003036.4(SKI):c.1569G>C (p.Ser523=) rs767052019
NM_003036.4(SKI):c.1582G>C (p.Ala528Pro)
NM_003036.4(SKI):c.1587G>C (p.Ala529=) rs542301067
NM_003036.4(SKI):c.1601C>T (p.Ala534Val)
NM_003036.4(SKI):c.1647G>C (p.Leu549=)
NM_003036.4(SKI):c.1653C>T (p.Gly551=)
NM_003036.4(SKI):c.1677A>G (p.Lys559=) rs1569862103
NM_003036.4(SKI):c.1686C>T (p.Phe562=)
NM_003036.4(SKI):c.1710C>A (p.Arg570=)
NM_003036.4(SKI):c.1715A>G (p.Lys572Arg)
NM_003036.4(SKI):c.1728G>A (p.Lys576=)
NM_003036.4(SKI):c.1767+8G>A rs755258323
NM_003036.4(SKI):c.1768-20G>T rs375518657
NM_003036.4(SKI):c.1768-4C>G
NM_003036.4(SKI):c.1768-8G>T
NM_003036.4(SKI):c.1785C>G (p.Arg595=)
NM_003036.4(SKI):c.1818G>A (p.Thr606=) rs377110260
NM_003036.4(SKI):c.1827G>A (p.Lys609=) rs1324710541
NM_003036.4(SKI):c.183G>C (p.Pro61=) rs774187595
NM_003036.4(SKI):c.183G>T (p.Pro61=)
NM_003036.4(SKI):c.1848C>A (p.Ile616=) rs1044806468
NM_003036.4(SKI):c.1863C>T (p.Ala621=) rs200702159
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1890C>A (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.189G>A (p.Pro63=)
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
NM_003036.4(SKI):c.1923G>T (p.Leu641=) rs199666240
NM_003036.4(SKI):c.1932G>A (p.Ala644=) rs1057521646
NM_003036.4(SKI):c.1965G>A (p.Glu655=) rs1475570086
NM_003036.4(SKI):c.1971C>T (p.Gly657=) rs878854598
NM_003036.4(SKI):c.1977G>A (p.Leu659=) rs1298626276
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
NM_003036.4(SKI):c.1983C>T (p.Ala661=) rs973734662
NM_003036.4(SKI):c.1998+10T>C
NM_003036.4(SKI):c.1999-12G>T
NM_003036.4(SKI):c.1999-14C>G
NM_003036.4(SKI):c.1999-14C>T
NM_003036.4(SKI):c.1999-7C>T
NM_003036.4(SKI):c.1999-9C>G rs369496789
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.2007C>T (p.Asp669=) rs750838146
NM_003036.4(SKI):c.200C>T (p.Ala67Val)
NM_003036.4(SKI):c.2043G>C (p.Arg681=) rs2100925770
NM_003036.4(SKI):c.2061C>T (p.Asp687=)
NM_003036.4(SKI):c.2067G>A (p.Leu689=)
NM_003036.4(SKI):c.2069G>A (p.Arg690Gln)
NM_003036.4(SKI):c.207G>A (p.Glu69=)
NM_003036.4(SKI):c.2082C>T (p.Ala694=)
NM_003036.4(SKI):c.2091C>T (p.His697=) rs1487847272
NM_003036.4(SKI):c.2103G>A (p.Val701=)
NM_003036.4(SKI):c.2109G>A (p.Lys703=)
NM_003036.4(SKI):c.2112_2113delinsAT (p.Glu704_Leu705=) rs2100925995
NM_003036.4(SKI):c.2139C>T (p.Ala713=)
NM_003036.4(SKI):c.2142C>T (p.Arg714=) rs1569868248
NM_003036.4(SKI):c.2153C>T (p.Ala718Val)
NM_003036.4(SKI):c.2166C>T (p.Gly722=)
NM_003036.4(SKI):c.2169T>G (p.Ala723=)
NM_003036.4(SKI):c.2172G>C (p.Ala724=) rs879070309
NM_003036.4(SKI):c.2175G>A (p.Glu725=) rs1381348497
NM_003036.4(SKI):c.2184G>A (p.Pro728=)
NM_003036.4(SKI):c.225C>T (p.His75=) rs1553189880
NM_003036.4(SKI):c.228G>A (p.Leu76=) rs1297091418
NM_003036.4(SKI):c.231C>T (p.Pro77=) rs1638568541
NM_003036.4(SKI):c.261C>A (p.Pro87=) rs1257107710
NM_003036.4(SKI):c.267C>T (p.Pro89=)
NM_003036.4(SKI):c.270C>T (p.Phe90=) rs1436770788
NM_003036.4(SKI):c.279G>A (p.Pro93=) rs1638570161
NM_003036.4(SKI):c.27C>A (p.Gly9=) rs1476360335
NM_003036.4(SKI):c.282C>G (p.Ser94=)
NM_003036.4(SKI):c.312A>G (p.Val104=) rs368195821
NM_003036.4(SKI):c.313C>T (p.Leu105=)
NM_003036.4(SKI):c.318A>G (p.Glu106=) rs564817940
NM_003036.4(SKI):c.342G>T (p.Val114=) rs1057523880
NM_003036.4(SKI):c.351C>T (p.Gly117=) rs781703488
NM_003036.4(SKI):c.360C>A (p.Arg120=)
NM_003036.4(SKI):c.381C>T (p.Leu127=) rs371497152
NM_003036.4(SKI):c.399C>T (p.Asp133=) rs937379586
NM_003036.4(SKI):c.405_406delinsTT (p.Ser135_Leu136=) rs2100790167
NM_003036.4(SKI):c.417C>A (p.Ile139=) rs144874401
NM_003036.4(SKI):c.420C>T (p.Asn140=) rs1013962872
NM_003036.4(SKI):c.423G>C (p.Ala141=)
NM_003036.4(SKI):c.444C>T (p.Ile148=) rs1391345174
NM_003036.4(SKI):c.453G>A (p.Ser151=)
NM_003036.4(SKI):c.468C>T (p.Asp156=)
NM_003036.4(SKI):c.489C>T (p.Val163=) rs373291824
NM_003036.4(SKI):c.48G>A (p.Gly16=)
NM_003036.4(SKI):c.516C>G (p.Pro172=) rs182513685
NM_003036.4(SKI):c.51G>A (p.Leu17=) rs763997001
NM_003036.4(SKI):c.522C>T (p.Cys174=)
NM_003036.4(SKI):c.525G>A (p.Gly175=)
NM_003036.4(SKI):c.525G>T (p.Gly175=)
NM_003036.4(SKI):c.528C>T (p.Leu176=)
NM_003036.4(SKI):c.531C>T (p.Ile177=) rs1286351303
NM_003036.4(SKI):c.540G>C (p.Thr180=)
NM_003036.4(SKI):c.570C>T (p.Leu190=) rs1253539827
NM_003036.4(SKI):c.57G>A (p.Lys19=)
NM_003036.4(SKI):c.581C>A (p.Ala194Asp) rs746882046
NM_003036.4(SKI):c.584A>T (p.Tyr195Phe) rs1474048036
NM_003036.4(SKI):c.585C>T (p.Tyr195=)
NM_003036.4(SKI):c.612C>T (p.Ala204=) rs2100790564
NM_003036.4(SKI):c.631C>T (p.Leu211=)
NM_003036.4(SKI):c.636G>A (p.Glu212=) rs1461255065
NM_003036.4(SKI):c.654C>T (p.Val218=)
NM_003036.4(SKI):c.657C>T (p.Arg219=)
NM_003036.4(SKI):c.672C>T (p.Cys224=)
NM_003036.4(SKI):c.714C>T (p.Ser238=) rs1569660010
NM_003036.4(SKI):c.717C>T (p.Ser239=)
NM_003036.4(SKI):c.720G>A (p.Pro240=) rs1569660069
NM_003036.4(SKI):c.729C>T (p.Ala243=)
NM_003036.4(SKI):c.742C>T (p.Leu248=)
NM_003036.4(SKI):c.765G>C (p.Pro255=)
NM_003036.4(SKI):c.768G>A (p.Pro256=) rs1057521232
NM_003036.4(SKI):c.768G>T (p.Pro256=)
NM_003036.4(SKI):c.777C>T (p.Phe259=) rs2100790901
NM_003036.4(SKI):c.780G>A (p.Val260=)
NM_003036.4(SKI):c.786C>T (p.His262=)
NM_003036.4(SKI):c.789G>T (p.Ser263=)
NM_003036.4(SKI):c.828C>T (p.Phe276=)
NM_003036.4(SKI):c.840C>T (p.Asn280=) rs1423154745
NM_003036.4(SKI):c.84C>T (p.Ser28=)
NM_003036.4(SKI):c.858G>A (p.Leu286=)
NM_003036.4(SKI):c.867G>A (p.Gln289=)
NM_003036.4(SKI):c.903C>T (p.Gly301=)
NM_003036.4(SKI):c.915C>T (p.Asp305=) rs900879745
NM_003036.4(SKI):c.921G>A (p.Val307=)
NM_003036.4(SKI):c.924G>A (p.Lys308=)
NM_003036.4(SKI):c.951C>T (p.Tyr317=)
NM_003036.4(SKI):c.963G>T (p.Val321=)
NM_003036.4(SKI):c.969+10C>T
NM_003036.4(SKI):c.970-13dup
NM_003036.4(SKI):c.970-19A>G
NM_003036.4(SKI):c.970-4G>A
NM_003036.4(SKI):c.987G>C (p.Pro329=)
NM_003036.4(SKI):c.99C>T (p.Gly33=)
NM_003036.4(SKI):c.9G>C (p.Ala3=)
NM_003238.6(TGFB2):c.1032C>T (p.Asn344=)
NM_003238.6(TGFB2):c.1041T>C (p.Ala347=)
NM_003238.6(TGFB2):c.1071C>T (p.Asp357=)
NM_003238.6(TGFB2):c.1080C>T (p.His360=) rs2102630189
NM_003238.6(TGFB2):c.1086+10C>T
NM_003238.6(TGFB2):c.1086+13C>T
NM_003238.6(TGFB2):c.1086+15T>A
NM_003238.6(TGFB2):c.1107C>A (p.Thr369=) rs2102634327
NM_003238.6(TGFB2):c.111C>A (p.Ile37=) rs1440677621
NM_003238.6(TGFB2):c.111C>T (p.Ile37=)
NM_003238.6(TGFB2):c.1162C>T (p.Leu388=)
NM_003238.6(TGFB2):c.117G>C (p.Ala39=) rs1430240541
NM_003238.6(TGFB2):c.1185C>T (p.Gly395=)
NM_003238.6(TGFB2):c.1227G>A (p.Lys409=) rs2102634493
NM_003238.6(TGFB2):c.1230T>C (p.Ser410=) rs2102634500
NM_003238.6(TGFB2):c.133C>T (p.Leu45=) rs1553292084
NM_003238.6(TGFB2):c.142C>T (p.Leu48=) rs2102527511
NM_003238.6(TGFB2):c.159C>T (p.Pro53=)
NM_003238.6(TGFB2):c.174T>G (p.Pro58=)
NM_003238.6(TGFB2):c.183G>A (p.Glu61=)
NM_003238.6(TGFB2):c.186A>G (p.Glu62=)
NM_003238.6(TGFB2):c.189C>A (p.Val63=)
NM_003238.6(TGFB2):c.189C>T (p.Val63=) rs774030175
NM_003238.6(TGFB2):c.234C>T (p.Leu78=)
NM_003238.6(TGFB2):c.243G>A (p.Lys81=) rs2102527710
NM_003238.6(TGFB2):c.252G>C (p.Arg84=)
NM_003238.6(TGFB2):c.255G>A (p.Arg85=)
NM_003238.6(TGFB2):c.285C>A (p.Asp95Glu) rs767393318
NM_003238.6(TGFB2):c.291G>A (p.Glu97=)
NM_003238.6(TGFB2):c.30G>C (p.Leu10=) rs1571820584
NM_003238.6(TGFB2):c.327G>C (p.Pro109=)
NM_003238.6(TGFB2):c.346+12T>C
NM_003238.6(TGFB2):c.346+12T>G
NM_003238.6(TGFB2):c.346+8C>G rs1553292149
NM_003238.6(TGFB2):c.399C>T (p.Asp133=)
NM_003238.6(TGFB2):c.417G>A (p.Lys139=)
NM_003238.6(TGFB2):c.441A>T (p.Ala147=) rs1036004441
NM_003238.6(TGFB2):c.459T>C (p.Arg153=)
NM_003238.6(TGFB2):c.486T>C (p.Pro162=)
NM_003238.6(TGFB2):c.504A>G (p.Leu168=)
NM_003238.6(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[13] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[14] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[15] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[16]
NM_003238.6(TGFB2):c.510+12TTG[6] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[7] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[8] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9] rs10482769
NM_003238.6(TGFB2):c.510+9C>T rs1481374757
NM_003238.6(TGFB2):c.511-18G>A
NM_003238.6(TGFB2):c.511-8C>T rs770497232
NM_003238.6(TGFB2):c.511-9C>T rs1309139149
NM_003238.6(TGFB2):c.513T>C (p.Ile171=) rs1248612292
NM_003238.6(TGFB2):c.543C>G (p.Thr181=) rs1446432119
NM_003238.6(TGFB2):c.546G>A (p.Gln182=) rs1553302931
NM_003238.6(TGFB2):c.57C>T (p.Leu19=) rs1224916923
NM_003238.6(TGFB2):c.582A>G (p.Ala194=)
NM_003238.6(TGFB2):c.600C>T (p.Ser200=) rs2102626461
NM_003238.6(TGFB2):c.643+9C>A
NM_003238.6(TGFB2):c.644-17G>C
NM_003238.6(TGFB2):c.651C>T (p.Asn217=) rs749957893
NM_003238.6(TGFB2):c.663A>G (p.Lys221=)
NM_003238.6(TGFB2):c.754+7A>G
NM_003238.6(TGFB2):c.755-17A>C
NM_003238.6(TGFB2):c.755-18C>T
NM_003238.6(TGFB2):c.755-6T>C
NM_003238.6(TGFB2):c.759T>C (p.Ile253=)
NM_003238.6(TGFB2):c.774A>C (p.Thr258=)
NM_003238.6(TGFB2):c.792G>A (p.Gln264=) rs2102628465
NM_003238.6(TGFB2):c.795A>G (p.Lys265=)
NM_003238.6(TGFB2):c.810T>G (p.Thr270=) rs778961900
NM_003238.6(TGFB2):c.81C>A (p.Leu27=)
NM_003238.6(TGFB2):c.828G>A (p.Gly276=) rs1659959926
NM_003238.6(TGFB2):c.864C>G (p.Ser288=) rs373646036
NM_003238.6(TGFB2):c.876G>A (p.Glu292=) rs2102628622
NM_003238.6(TGFB2):c.885G>A (p.Gln295=)
NM_003238.6(TGFB2):c.888C>T (p.Thr296=)
NM_003238.6(TGFB2):c.895C>A (p.Arg299=) rs863223792
NM_003238.6(TGFB2):c.906T>G (p.Arg302=)
NM_003238.6(TGFB2):c.921C>T (p.Ala307=) rs2102628692
NM_003238.6(TGFB2):c.924T>C (p.Tyr308=)
NM_003238.6(TGFB2):c.932+16G>A rs2102628719
NM_003238.6(TGFB2):c.933-14_933-13insG
NM_003238.6(TGFB2):c.933-18T>C
NM_003238.6(TGFB2):c.933-9T>C rs763680794
NM_003238.6(TGFB2):c.936T>C (p.Asn312=)
NM_003238.6(TGFB2):c.963A>G (p.Pro321=)
NM_003238.6(TGFB2):c.975T>C (p.Asp325=)
NM_003238.6(TGFB2):c.978C>T (p.Phe326=) rs1405556618
NM_003238.6(TGFB2):c.990A>G (p.Leu330=)
NM_003239.5(TGFB3):c.1023C>T (p.Ala341=) rs2035149393
NM_003239.5(TGFB3):c.1026C>T (p.Asn342=)
NM_003239.5(TGFB3):c.1059T>C (p.Ser353=)
NM_003239.5(TGFB3):c.1065C>T (p.Asp355=)
NM_003239.5(TGFB3):c.1074C>T (p.His358=) rs2140236128
NM_003239.5(TGFB3):c.1080+14T>A
NM_003239.5(TGFB3):c.1081-10C>A
NM_003239.5(TGFB3):c.1081-12G>A
NM_003239.5(TGFB3):c.1081-8C>G rs773558367
NM_003239.5(TGFB3):c.1081-8C>T rs773558367
NM_003239.5(TGFB3):c.1083G>T (p.Val361=) rs1595336749
NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)
NM_003239.5(TGFB3):c.1125G>A (p.Ser375=)
NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)
NM_003239.5(TGFB3):c.1149G>A (p.Leu383=) rs1555360032
NM_003239.5(TGFB3):c.1173T>C (p.Tyr391=)
NM_003239.5(TGFB3):c.1179G>A (p.Gly393=) rs1555360030
NM_003239.5(TGFB3):c.1182G>A (p.Arg394=)
NM_003239.5(TGFB3):c.1194G>A (p.Val398=) rs767894523
NM_003239.5(TGFB3):c.1236C>T (p.Ser412=) rs1231643522
NM_003239.5(TGFB3):c.135A>T (p.Gly45=) rs759608485
NM_003239.5(TGFB3):c.144G>A (p.Leu48=) rs1479160942
NM_003239.5(TGFB3):c.150G>A (p.Lys50=) rs1330137432
NM_003239.5(TGFB3):c.153C>T (p.Leu51=) rs760506739
NM_003239.5(TGFB3):c.162C>T (p.Thr54=)
NM_003239.5(TGFB3):c.165C>T (p.Ser55=)
NM_003239.5(TGFB3):c.171T>C (p.Pro57=) rs768225719
NM_003239.5(TGFB3):c.171T>G (p.Pro57=)
NM_003239.5(TGFB3):c.180G>A (p.Thr60=) rs1594792436
NM_003239.5(TGFB3):c.210G>C (p.Leu70=) rs2140254337
NM_003239.5(TGFB3):c.219C>T (p.Tyr73=)
NM_003239.5(TGFB3):c.231G>A (p.Arg77=)
NM_003239.5(TGFB3):c.237G>A (p.Leu79=) rs2140254299
NM_003239.5(TGFB3):c.237G>T (p.Leu79=)
NM_003239.5(TGFB3):c.258G>A (p.Glu86=) rs761683627
NM_003239.5(TGFB3):c.291G>A (p.Glu97=) rs1286432002
NM_003239.5(TGFB3):c.300C>T (p.Tyr100=)
NM_003239.5(TGFB3):c.345G>A (p.Ala115=) rs1060504730
NM_003239.5(TGFB3):c.352+10A>G
NM_003239.5(TGFB3):c.352+13T>C
NM_003239.5(TGFB3):c.352+17G>A
NM_003239.5(TGFB3):c.353-14G>T rs886050797
NM_003239.5(TGFB3):c.353-14_353-10del rs1422599707
NM_003239.5(TGFB3):c.353-19G>C
NM_003239.5(TGFB3):c.353-4C>G
NM_003239.5(TGFB3):c.353-5C>T rs1355725139
NM_003239.5(TGFB3):c.438A>G (p.Leu146=) rs2140245833
NM_003239.5(TGFB3):c.43C>T (p.Leu15=)
NM_003239.5(TGFB3):c.441C>T (p.Phe147=) rs560468476
NM_003239.5(TGFB3):c.471C>T (p.Pro157=) rs768917005
NM_003239.5(TGFB3):c.498G>A (p.Gln166=) rs886050796
NM_003239.5(TGFB3):c.516+18G>C rs1594787972
NM_003239.5(TGFB3):c.516+8C>A rs2035292281
NM_003239.5(TGFB3):c.516+9T>C rs2140245664
NM_003239.5(TGFB3):c.517-10T>C rs375794497
NM_003239.5(TGFB3):c.517-13C>T
NM_003239.5(TGFB3):c.517-18C>G
NM_003239.5(TGFB3):c.525G>C (p.Arg175=)
NM_003239.5(TGFB3):c.57G>A (p.Thr19=)
NM_003239.5(TGFB3):c.57G>C (p.Thr19=) rs1325304886
NM_003239.5(TGFB3):c.646+16A>T
NM_003239.5(TGFB3):c.646+17G>T
NM_003239.5(TGFB3):c.646+18A>C
NM_003239.5(TGFB3):c.646+9A>G rs903703321
NM_003239.5(TGFB3):c.647-17T>C rs937023243
NM_003239.5(TGFB3):c.66C>T (p.Leu22=)
NM_003239.5(TGFB3):c.684A>G (p.Pro228=) rs745821422
NM_003239.5(TGFB3):c.708A>G (p.Gly236=) rs2035212392
NM_003239.5(TGFB3):c.711T>C (p.Asp237=) rs1206735679
NM_003239.5(TGFB3):c.714C>T (p.Ile238=)
NM_003239.5(TGFB3):c.735G>T (p.Val245=)
NM_003239.5(TGFB3):c.750C>T (p.Phe250=) rs2140240196
NM_003239.5(TGFB3):c.754+11G>T
NM_003239.5(TGFB3):c.755-10C>T
NM_003239.5(TGFB3):c.755-14C>T
NM_003239.5(TGFB3):c.755-16del
NM_003239.5(TGFB3):c.755-18T>C
NM_003239.5(TGFB3):c.755-6C>G rs1283455840
NM_003239.5(TGFB3):c.756C>A (p.Gly252=)
NM_003239.5(TGFB3):c.756C>T (p.Gly252=) rs369435862
NM_003239.5(TGFB3):c.777T>C (p.His259=) rs1595339249
NM_003239.5(TGFB3):c.795G>A (p.Gly265=) rs1213571239
NM_003239.5(TGFB3):c.810G>A (p.Gln270=) rs1595339194
NM_003239.5(TGFB3):c.832C>T (p.Leu278=) rs2035182890
NM_003239.5(TGFB3):c.837C>T (p.Ile279=)
NM_003239.5(TGFB3):c.864C>T (p.Leu288=)
NM_003239.5(TGFB3):c.926+11G>A rs2035179873
NM_003239.5(TGFB3):c.926+11del rs2140238030
NM_003239.5(TGFB3):c.926+12C>T
NM_003239.5(TGFB3):c.926+19G>C
NM_003239.5(TGFB3):c.926+19_926+30del
NM_003239.5(TGFB3):c.926+9G>A rs771442662
NM_003239.5(TGFB3):c.927-14G>A
NM_003239.5(TGFB3):c.927-15T>C
NM_003239.5(TGFB3):c.927-6T>C
NM_003239.5(TGFB3):c.927-7G>A rs2140236302
NM_003239.5(TGFB3):c.951G>A (p.Val317=)
NM_003239.5(TGFB3):c.954C>T (p.Arg318=) rs1595337745
NM_003239.5(TGFB3):c.973C>A (p.Arg325=)

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