ClinVar Miner

List of variants reported as likely benign for Congenital contractural arachnodactyly by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1038
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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_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
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_001999.4(FBN2):c.2684A>G (p.Lys895Arg) rs143565958 0.00074
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491 0.00049
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_001999.4(FBN2):c.8428T>A (p.Ser2810Thr) rs186577030 0.00038
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231 0.00035
NM_001999.4(FBN2):c.6511+4C>T rs368610241 0.00035
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_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202 0.00031
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr) rs149054177 0.00030
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser) rs148493036 0.00028
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999 0.00026
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
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_001999.4(FBN2):c.27C>G (p.Leu9=) rs369714882 0.00019
NM_001999.4(FBN2):c.1466-4G>A rs371636769 0.00017
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980 0.00016
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=) rs375141964 0.00015
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_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
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_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_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_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_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_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_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_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_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_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_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_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_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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.