ClinVar Miner

List of variants in gene FBN2 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1508
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00178
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_001999.4(FBN2):c.4100-9G>T rs377002313 0.00106
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
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.-338G>A rs776638871 0.00039
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419 0.00033
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
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.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_001999.4(FBN2):c.*671G>A rs886059886 0.00016
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys) rs371512923 0.00016
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558 0.00015
NM_001999.4(FBN2):c.*1009A>G rs375097557 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.3341C>T (p.Thr1114Met) rs202219940 0.00014
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00014
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) rs545524318 0.00014
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824 0.00014
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 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.6964A>G (p.Ile2322Val) rs756500246 0.00012
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072 0.00011
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419 0.00011
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val) rs141854054 0.00011
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758 0.00011
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp) rs375093230 0.00010
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542 0.00010
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met) rs2307109 0.00010
NM_001999.4(FBN2):c.*642A>G rs950545343 0.00009
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 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.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_001999.4(FBN2):c.*1118T>C rs776542113 0.00008
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842 0.00008
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg) rs745528502 0.00007
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 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.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914 0.00006
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile) rs138046782 0.00006
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973 0.00006
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His) rs1256710897 0.00006
NM_001999.4(FBN2):c.2115C>G (p.Thr705=) rs763844538 0.00006
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00006
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323 0.00006
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544 0.00006
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro) rs143195229 0.00006
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val) rs765442038 0.00006
NM_001999.4(FBN2):c.5422+6T>G rs1000499022 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_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.6833C>A (p.Thr2278Lys) rs2307109 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 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.7963G>A (p.Glu2655Lys) rs753526426 0.00006
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242 0.00006
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu) rs139189178 0.00005
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096 0.00005
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554 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.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_001999.4(FBN2):c.*879C>T rs774452401 0.00004
NM_001999.4(FBN2):c.1078+12A>C rs769211487 0.00004
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545 0.00004
NM_001999.4(FBN2):c.1140G>A (p.Pro380=) rs532059159 0.00004
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser) rs779849582 0.00004
NM_001999.4(FBN2):c.1643A>C (p.Asp548Ala) rs757406333 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.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.2555-6T>C rs376507178 0.00004
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys) rs1204772554 0.00004
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875 0.00004
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser) rs775844150 0.00004
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr) rs755127278 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.3793G>A (p.Glu1265Lys) rs776031352 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.4259G>A (p.Ser1420Asn) rs751406554 0.00004
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu) rs771467729 0.00004
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys) rs374493286 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052 0.00004
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser) rs750837082 0.00004
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589 0.00004
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944 0.00004
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207 0.00004
NM_001999.4(FBN2):c.6293-8T>A rs375682913 0.00004
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp) rs537628586 0.00004
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu) rs1415043313 0.00004
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069 0.00004
NM_001999.4(FBN2):c.704C>T (p.Thr235Met) rs367767903 0.00004
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu) rs746473847 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 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.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 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.244G>A (p.Val82Met) rs550387143 0.00003
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp) rs142249689 0.00003
NM_001999.4(FBN2):c.338-7T>G rs763168964 0.00003
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter) rs863223569 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.3980A>G (p.Asn1327Ser) rs762567430 0.00003
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala) rs28763942 0.00003
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His) rs771260299 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.5638G>A (p.Ala1880Thr) rs546148828 0.00003
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478 0.00003
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393 0.00003
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn) rs370650204 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.733C>T (p.Arg245Trp) rs146941428 0.00003
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120 0.00003
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala) rs752627315 0.00003
NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg) rs747305733 0.00003
NM_001999.4(FBN2):c.7859G>A (p.Gly2620Glu) rs770728135 0.00003
NM_001999.4(FBN2):c.7879G>A (p.Gly2627Ser) rs369568420 0.00003
NM_001999.4(FBN2):c.8192+7C>T rs376135657 0.00003
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser) rs372206279 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576 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.101C>T (p.Pro34Leu) rs368006487 0.00002
NM_001999.4(FBN2):c.1058C>T (p.Thr353Ile) rs1204127908 0.00002
NM_001999.4(FBN2):c.1093A>G (p.Met365Val) rs1401325502 0.00002
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys) rs576123258 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.1365G>T (p.Gly455=) rs794726987 0.00002
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala) rs928205576 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.1897A>G (p.Ile633Val) rs748419325 0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00002
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser) rs746408145 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2144G>A (p.Cys715Tyr) rs766592611 0.00002
NM_001999.4(FBN2):c.2178C>T (p.Ser726=) rs573282381 0.00002
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg) rs1204171410 0.00002
NM_001999.4(FBN2):c.2620A>C (p.Asn874His) rs1297639505 0.00002
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser) rs555682061 0.00002
NM_001999.4(FBN2):c.2811A>G (p.Leu937=) rs1751336276 0.00002
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112 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.3442A>G (p.Ser1148Gly) rs764809572 0.00002
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly) rs770483769 0.00002
NM_001999.4(FBN2):c.3700A>G (p.Thr1234Ala) rs745525613 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.4343C>T (p.Ser1448Leu) rs1222584747 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847 0.00002
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) rs769474473 0.00002
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys) rs759117573 0.00002
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val) rs779901706 0.00002
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428 0.00002
NM_001999.4(FBN2):c.5815G>A (p.Glu1939Lys) rs779671043 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.6250C>T (p.Pro2084Ser) rs868031420 0.00002
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser) rs1016100479 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.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser) rs751231315 0.00002
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys) rs886038992 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu) rs1464960068 0.00002
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702 0.00002
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836 0.00002
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser) rs562508529 0.00002
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu) rs199583859 0.00002
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053 0.00002
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val) rs775848753 0.00002
NM_001999.4(FBN2):c.7712-11T>A rs776926809 0.00002
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly) rs1430209734 0.00002
NM_001999.4(FBN2):c.785G>A (p.Arg262Gln) rs763997393 0.00002
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564 0.00002
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu) rs149180427 0.00002
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys) rs863223592 0.00002
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954 0.00002
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met) rs754475064 0.00002
NM_001999.4(FBN2):c.*1239A>G rs765057642 0.00001
NM_001999.4(FBN2):c.*1315C>G rs886059883 0.00001
NM_001999.4(FBN2):c.*244T>C rs886059889 0.00001
NM_001999.4(FBN2):c.*745C>G rs754492977 0.00001
NM_001999.4(FBN2):c.-219C>G rs886059905 0.00001
NM_001999.4(FBN2):c.-2C>A rs776371080 0.00001
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly) rs761066631 0.00001
NM_001999.4(FBN2):c.1120C>T (p.Arg374Cys) rs759013590 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.1180C>T (p.Arg394Cys) rs563228953 0.00001
NM_001999.4(FBN2):c.1234G>A (p.Glu412Lys) rs962522833 0.00001
NM_001999.4(FBN2):c.1240C>T (p.Arg414Cys) rs1382726763 0.00001
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile) rs749969520 0.00001
NM_001999.4(FBN2):c.1301C>G (p.Pro434Arg) rs761606981 0.00001
NM_001999.4(FBN2):c.1346A>G (p.Asn449Ser) rs759805834 0.00001
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp) rs748584140 0.00001
NM_001999.4(FBN2):c.1480A>T (p.Thr494Ser) rs200850552 0.00001
NM_001999.4(FBN2):c.1502A>C (p.His501Pro) rs773361111 0.00001
NM_001999.4(FBN2):c.1505C>G (p.Ala502Gly) rs369405711 0.00001
NM_001999.4(FBN2):c.1525C>T (p.Arg509Cys) rs775037345 0.00001
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val) rs753734866 0.00001
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr) rs1456682417 0.00001
NM_001999.4(FBN2):c.1724-7T>G rs1490528227 0.00001
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser) rs1057523294 0.00001
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553 0.00001
NM_001999.4(FBN2):c.1841A>T (p.Asn614Ile) rs770876270 0.00001
NM_001999.4(FBN2):c.1903G>A (p.Glu635Lys) rs138963610 0.00001
NM_001999.4(FBN2):c.1938A>G (p.Gly646=) rs1057518608 0.00001
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668 0.00001
NM_001999.4(FBN2):c.2083C>T (p.Arg695Cys) rs747447916 0.00001
NM_001999.4(FBN2):c.2084G>A (p.Arg695His) rs143722436 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.2149C>T (p.Arg717Cys) rs766945762 0.00001
NM_001999.4(FBN2):c.220G>A (p.Val74Ile) rs779812100 0.00001
NM_001999.4(FBN2):c.2222G>A (p.Cys741Tyr) rs1751862882 0.00001
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly) rs1485036763 0.00001
NM_001999.4(FBN2):c.2308A>C (p.Asn770His) rs772662395 0.00001
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu) rs889066564 0.00001
NM_001999.4(FBN2):c.2375G>A (p.Arg792His) rs374031658 0.00001
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu) rs547769591 0.00001
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715 0.00001
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp) rs1751527556 0.00001
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg) rs749819006 0.00001
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly) rs863223558 0.00001
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys) rs763094104 0.00001
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val) rs368766120 0.00001
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp) rs138429045 0.00001
NM_001999.4(FBN2):c.2863+3G>A rs762144935 0.00001
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg) rs547410742 0.00001
NM_001999.4(FBN2):c.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.3401C>T (p.Thr1134Ile) rs863223602 0.00001
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005 0.00001
NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys) rs774250442 0.00001
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser) rs138303817 0.00001
NM_001999.4(FBN2):c.3515G>C (p.Gly1172Ala) rs931046977 0.00001
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp) rs771385579 0.00001
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met) rs375710546 0.00001
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu) rs748888503 0.00001
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr) rs779690646 0.00001
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys) rs755737169 0.00001
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043 0.00001
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe) rs914081385 0.00001
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992 0.00001
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met) rs558632824 0.00001
NM_001999.4(FBN2):c.3685C>T (p.Pro1229Ser) rs772682329 0.00001
NM_001999.4(FBN2):c.3721A>G (p.Thr1241Ala) rs754701797 0.00001
NM_001999.4(FBN2):c.3724+11A>G rs886059900 0.00001
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg) rs1018550681 0.00001
NM_001999.4(FBN2):c.37T>C (p.Phe13Leu) rs957639025 0.00001
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe) rs1263059454 0.00001
NM_001999.4(FBN2):c.3884A>G (p.Asp1295Gly) rs775987665 0.00001
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys) rs922751471 0.00001
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe) rs763595235 0.00001
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246 0.00001
NM_001999.4(FBN2):c.3958A>G (p.Met1320Val) rs759481427 0.00001
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr) rs150872093 0.00001
NM_001999.4(FBN2):c.3974-12T>C rs1328132019 0.00001
NM_001999.4(FBN2):c.3976G>A (p.Val1326Ile) rs763789417 0.00001
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile) rs1231103337 0.00001
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg) rs1039821634 0.00001
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala) rs768722316 0.00001
NM_001999.4(FBN2):c.419C>T (p.Thr140Ile) rs779952945 0.00001
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly) rs1407868144 0.00001
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn) rs367961012 0.00001
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly) rs766483687 0.00001
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile) rs199668238 0.00001
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe) rs199668238 0.00001
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367 0.00001
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356 0.00001
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp) rs1085307489 0.00001
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=) rs1176811808 0.00001
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475 0.00001
NM_001999.4(FBN2):c.4708G>T (p.Gly1570Cys) rs1554121027 0.00001
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904 0.00001
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val) rs770269667 0.00001
NM_001999.4(FBN2):c.4808G>A (p.Arg1603His) rs751661259 0.00001
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr) rs750116860 0.00001
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala) rs139830237 0.00001
NM_001999.4(FBN2):c.488A>G (p.His163Arg) rs1029299660 0.00001
NM_001999.4(FBN2):c.5015G>A (p.Ser1672Asn) rs1018411631 0.00001
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His) rs770803581 0.00001
NM_001999.4(FBN2):c.5074+5G>A rs374651068 0.00001
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile) rs572030603 0.00001
NM_001999.4(FBN2):c.513T>G (p.Ile171Met) rs1756603412 0.00001
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu) rs1402545685 0.00001
NM_001999.4(FBN2):c.5201-3T>C rs1057521162 0.00001
NM_001999.4(FBN2):c.5222A>G (p.Tyr1741Cys) rs1437438964 0.00001
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter) rs1178371653 0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234 0.00001
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931 0.00001
NM_001999.4(FBN2):c.52T>A (p.Cys18Ser) rs1033004512 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866 0.00001
NM_001999.4(FBN2):c.5500G>A (p.Glu1834Lys) rs1207820976 0.00001
NM_001999.4(FBN2):c.5502A>G (p.Glu1834=) rs373545461 0.00001
NM_001999.4(FBN2):c.5549-8T>A rs1339062362 0.00001
NM_001999.4(FBN2):c.5570G>A (p.Gly1857Asp) rs1450254210 0.00001
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp) rs1192632165 0.00001
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser) rs745759959 0.00001
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789 0.00001
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp) rs1010422106 0.00001
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg) rs1581202795 0.00001
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg) rs376398925 0.00001
NM_001999.4(FBN2):c.5762A>G (p.Asn1921Ser) rs1160016215 0.00001
NM_001999.4(FBN2):c.5800+10G>A rs546373462 0.00001
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly) rs1554119542 0.00001
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser) rs863223578 0.00001
NM_001999.4(FBN2):c.5845A>G (p.Lys1949Glu) rs1064796980 0.00001
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr) rs369652475 0.00001
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg) rs1314671452 0.00001
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr) rs1060503501 0.00001
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys) rs758369648 0.00001
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp) rs1437992406 0.00001
NM_001999.4(FBN2):c.5999T>A (p.Leu2000Gln) rs766604067 0.00001
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr) rs878854476 0.00001
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=) rs749647897 0.00001
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp) rs547583705 0.00001
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=) rs1131691293 0.00001
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys) rs368453513 0.00001
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611 0.00001
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu) rs1207752455 0.00001
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu) rs1295335940 0.00001
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys) rs1425263303 0.00001
NM_001999.4(FBN2):c.6320A>C (p.Asn2107Thr) rs183350360 0.00001
NM_001999.4(FBN2):c.6414C>A (p.Asp2138Glu) rs1449873424 0.00001
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233 0.00001
NM_001999.4(FBN2):c.6445+5G>A rs761871037 0.00001
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile) rs1394667470 0.00001
NM_001999.4(FBN2):c.6512-3T>C rs764271022 0.00001
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser) rs143054385 0.00001
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=) rs757216544 0.00001
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His) rs144887443 0.00001
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076 0.00001
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys) rs761101580 0.00001
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His) rs745396297 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.671T>C (p.Met224Thr) rs886038798 0.00001
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631 0.00001
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu) rs760247833 0.00001
NM_001999.4(FBN2):c.681G>T (p.Gly227=) rs772923075 0.00001
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met) rs770011418 0.00001
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val) rs756798856 0.00001
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr) rs1208950525 0.00001
NM_001999.4(FBN2):c.6923G>A (p.Arg2308Lys) rs765129486 0.00001
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser) rs863223613 0.00001
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942 0.00001
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys) rs863223586 0.00001
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979 0.00001
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln) rs757161476 0.00001
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn) rs758124873 0.00001
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val) rs762058983 0.00001
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689 0.00001
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu) rs755134019 0.00001
NM_001999.4(FBN2):c.7324G>A (p.Gly2442Arg) rs750984768 0.00001
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile) rs201883128 0.00001
NM_001999.4(FBN2):c.7345+3A>G rs776419198 0.00001
NM_001999.4(FBN2):c.7345G>A (p.Asp2449Asn) rs759198660 0.00001
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457 0.00001
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser) rs576501460 0.00001
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val) rs373370945 0.00001
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652 0.00001
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546 0.00001
NM_001999.4(FBN2):c.7471+5C>T rs369559870 0.00001
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421 0.00001
NM_001999.4(FBN2):c.7565T>C (p.Val2522Ala) rs886039005 0.00001
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His) rs1451291857 0.00001
NM_001999.4(FBN2):c.7654G>C (p.Gly2552Arg) rs375790581 0.00001
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu) rs770193908 0.00001
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe) rs146316163 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.791G>A (p.Gly264Asp) rs746046058 0.00001
NM_001999.4(FBN2):c.7960+5G>A rs863223590 0.00001
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser) rs765867245 0.00001
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr) rs1245151549 0.00001
NM_001999.4(FBN2):c.798C>G (p.Ile266Met) rs1754660877 0.00001
NM_001999.4(FBN2):c.8015C>T (p.Thr2672Ile) rs58095366 0.00001
NM_001999.4(FBN2):c.8062C>G (p.Gln2688Glu) rs539853433 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.8254G>A (p.Asp2752Asn) rs529742815 0.00001
NM_001999.4(FBN2):c.827-19A>G rs199559284 0.00001
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys) rs772841538 0.00001
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His) rs1262933234 0.00001
NM_001999.4(FBN2):c.830T>C (p.Val277Ala) rs961188237 0.00001
NM_001999.4(FBN2):c.8321A>T (p.Asp2774Val) rs1351974492 0.00001
NM_001999.4(FBN2):c.8387G>C (p.Ser2796Thr) rs751287011 0.00001
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser) rs772227931 0.00001
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro) rs863223591 0.00001
NM_001999.4(FBN2):c.842A>G (p.Gln281Arg) rs773505261 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00001
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys) rs752384882 0.00001
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg) rs772928933 0.00001
NM_001999.4(FBN2):c.8601A>G (p.Thr2867=) rs542824837 0.00001
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp) rs888064842 0.00001
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly) rs768293070 0.00001
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser) rs779659640 0.00001
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys) rs577855501 0.00001
NM_001999.4(FBN2):c.953-3T>A rs1020574940 0.00001
GRCh37/hg19 5q23.3(chr5:127728505-127787964)x1
GRCh37/hg19 5q23.3(chr5:127739699-127871574)x1
NC_000005.10:g.(?_128301372)_(128312805_?)dup
NC_000005.10:g.(?_128318139)_(128319011_?)dup
NC_000005.10:g.(?_128350858)_(128351015_?)del
NC_000005.10:g.(?_128530575)_(128530713_?)del
NC_000005.10:g.(?_128537340)_(128537613_?)del
NC_000005.9:g.(?_127595147)_(127873296_?)del
NC_000005.9:g.(?_127622400)_(127645101_?)dup
NC_000005.9:g.(?_127666331)_(127799615_?)del
NC_000005.9:g.(?_127685029)_(127686707_?)del
NC_000005.9:g.(?_127689859)_(127693060_?)del
NC_000005.9:g.(?_127712503)_(127716032_?)del
NM_001999.4(FBN2):c.*100A>C rs886059890
NM_001999.4(FBN2):c.*1050GTT[6] rs886059885
NM_001999.4(FBN2):c.*1102G>A rs1764871127
NM_001999.4(FBN2):c.*1111C>A rs886059884
NM_001999.4(FBN2):c.*1111C>T rs886059884
NM_001999.4(FBN2):c.*1420A>C rs886059882
NM_001999.4(FBN2):c.*1420_*1421dup rs143731656
NM_001999.4(FBN2):c.*1507A>G rs1764860915
NM_001999.4(FBN2):c.*284C>T rs886059888
NM_001999.4(FBN2):c.*322_*323dup rs536242166
NM_001999.4(FBN2):c.*323dup rs536242166
NM_001999.4(FBN2):c.*557C>T rs886059887
NM_001999.4(FBN2):c.*686C>T rs1764882009
NM_001999.4(FBN2):c.*716A>G rs1581169601
NM_001999.4(FBN2):c.-173G>A rs1044506328
NM_001999.4(FBN2):c.-173G>C rs1044506328
NM_001999.4(FBN2):c.-190C>G rs998131843
NM_001999.4(FBN2):c.-430A>C rs1756908339
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser) rs1752993803
NM_001999.4(FBN2):c.1012G>T (p.Val338Leu)
NM_001999.4(FBN2):c.1015G>A (p.Gly339Arg) rs1379355760
NM_001999.4(FBN2):c.1030G>T (p.Val344Phe)
NM_001999.4(FBN2):c.1039C>T (p.Arg347Cys)
NM_001999.4(FBN2):c.104C>T (p.Pro35Leu) rs2112810970
NM_001999.4(FBN2):c.1055C>T (p.Ser352Leu) rs863223548
NM_001999.4(FBN2):c.1061A>T (p.Asp354Val)
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter) rs1752991946
NM_001999.4(FBN2):c.1070G>T (p.Arg357Leu)
NM_001999.4(FBN2):c.1072T>C (p.Cys358Arg)
NM_001999.4(FBN2):c.1075A>G (p.Ile359Val)
NM_001999.4(FBN2):c.1078+5G>A rs1752991507
NM_001999.4(FBN2):c.1078G>C (p.Asp360His)
NM_001999.4(FBN2):c.1079-8A>T rs761013637
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
NM_001999.4(FBN2):c.1105G>T (p.Gly369Cys)
NM_001999.4(FBN2):c.1107C>T (p.Gly369=) rs1060503505
NM_001999.4(FBN2):c.1121G>A (p.Arg374His)
NM_001999.4(FBN2):c.1123T>C (p.Cys375Arg) rs771054241
NM_001999.4(FBN2):c.1126G>T (p.Ala376Ser) rs746951402
NM_001999.4(FBN2):c.112C>T (p.Pro38Ser)
NM_001999.4(FBN2):c.1131del (p.Glu378fs)
NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr)
NM_001999.4(FBN2):c.1156A>G (p.Met386Val)
NM_001999.4(FBN2):c.116G>C (p.Arg39Pro)
NM_001999.4(FBN2):c.116_130dup (p.Pro43_Pro44insArgProGlnProPro)
NM_001999.4(FBN2):c.117del (p.Gln41fs)
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
NM_001999.4(FBN2):c.118C>T (p.Pro40Ser) rs2112810915
NM_001999.4(FBN2):c.1194C>A (p.Ile398=)
NM_001999.4(FBN2):c.1201A>G (p.Ile401Val) rs863223549
NM_001999.4(FBN2):c.1209dup (p.Ala404fs) rs1752614082
NM_001999.4(FBN2):c.1210G>T (p.Ala404Ser)
NM_001999.4(FBN2):c.1231+4C>T
NM_001999.4(FBN2):c.1257T>A (p.Asp419Glu)
NM_001999.4(FBN2):c.1267A>G (p.Met423Val)
NM_001999.4(FBN2):c.1270G>A (p.Gly424Arg) rs863223550
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met) rs1752569770
NM_001999.4(FBN2):c.1280C>T (p.Pro427Leu)
NM_001999.4(FBN2):c.1288G>T (p.Ala430Ser)
NM_001999.4(FBN2):c.1316G>A (p.Gly439Glu) rs1554066016
NM_001999.4(FBN2):c.1316del (p.Gly439fs)
NM_001999.4(FBN2):c.1328C>T (p.Ala443Val) rs863223551
NM_001999.4(FBN2):c.1330C>G (p.Pro444Ala)
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser) rs1554066013
NM_001999.4(FBN2):c.1347T>G (p.Asn449Lys)
NM_001999.4(FBN2):c.134A>T (p.Gln45Leu) rs774411616
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del) rs730880109
NM_001999.4(FBN2):c.1364G>C (p.Gly455Ala)
NM_001999.4(FBN2):c.1382T>A (p.Ile461Asn)
NM_001999.4(FBN2):c.139G>T (p.Val47Phe) rs2112810860
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu) rs138046782
NM_001999.4(FBN2):c.1411G>T (p.Val471Phe)
NM_001999.4(FBN2):c.1421C>G (p.Ala474Gly)
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg) rs200440156
NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)
NM_001999.4(FBN2):c.1443G>C (p.Gln481His) rs923812426
NM_001999.4(FBN2):c.1453A>G (p.Ile485Val) rs772773731
NM_001999.4(FBN2):c.1456A>T (p.Thr486Ser)
NM_001999.4(FBN2):c.1481C>A (p.Thr494Lys) rs1752532671
NM_001999.4(FBN2):c.1489A>G (p.Ile497Val)
NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr)
NM_001999.4(FBN2):c.1491C>G (p.Ile497Met) rs1158937805
NM_001999.4(FBN2):c.14G>C (p.Arg5Pro) rs1194684025
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg) rs1060503509
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.1543T>C (p.Ser515Pro) rs528255772
NM_001999.4(FBN2):c.1567A>G (p.Met523Val)
NM_001999.4(FBN2):c.1586C>A (p.Ala529Glu)
NM_001999.4(FBN2):c.1600A>G (p.Ile534Val) rs1752527949
NM_001999.4(FBN2):c.1601T>C (p.Ile534Thr) rs762032979
NM_001999.4(FBN2):c.1603+6T>C rs1752527763
NM_001999.4(FBN2):c.1604-1G>A
NM_001999.4(FBN2):c.1607_1609del (p.Val536del) rs863223594
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys) rs1561427124
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe) rs1456682417
NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)
NM_001999.4(FBN2):c.1624A>G (p.Asn542Asp) rs781622385
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys) rs2126960231
NM_001999.4(FBN2):c.1637A>C (p.Asn546Thr)
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr) rs1581251809
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg) rs2126960181
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg) rs1283833434
NM_001999.4(FBN2):c.1679G>A (p.Cys560Tyr)
NM_001999.4(FBN2):c.1681C>T (p.His561Tyr) rs2126960142
NM_001999.4(FBN2):c.169G>T (p.Gly57Trp) rs2112810796
NM_001999.4(FBN2):c.16A>T (p.Arg6Trp)
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg) rs376737293
NM_001999.4(FBN2):c.1723+3A>G rs2126960065
NM_001999.4(FBN2):c.1723G>C (p.Asp575His)
NM_001999.4(FBN2):c.1724-2A>G rs876661172
NM_001999.4(FBN2):c.1724A>C (p.Asp575Ala)
NM_001999.4(FBN2):c.1727T>C (p.Ile576Thr) rs863223552
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn) rs1230736233
NM_001999.4(FBN2):c.1739T>C (p.Ile580Thr)
NM_001999.4(FBN2):c.1754T>C (p.Leu585Pro)
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg) rs759733025
NM_001999.4(FBN2):c.1763dup (p.Asn588fs) rs863223595
NM_001999.4(FBN2):c.1768C>T (p.Arg590Ter) rs2126958797
NM_001999.4(FBN2):c.1769G>A (p.Arg590Gln)
NM_001999.4(FBN2):c.1774G>A (p.Val592Met) rs762427107
NM_001999.4(FBN2):c.1780A>C (p.Thr594Pro) rs1554064868
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala) rs1554064868
NM_001999.4(FBN2):c.1781C>T (p.Thr594Ile)
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
NM_001999.4(FBN2):c.1789A>C (p.Ser597Arg) rs1033872078
NM_001999.4(FBN2):c.1797G>T (p.Gln599His)
NM_001999.4(FBN2):c.1798T>C (p.Cys600Arg) rs1752120226
NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe) rs1581251031
NM_001999.4(FBN2):c.1800delinsTT (p.Ile601fs)
NM_001999.4(FBN2):c.1804del (p.Cys602fs) rs886038824
NM_001999.4(FBN2):c.1810G>A (p.Ala604Thr)
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val) rs1581250994
NM_001999.4(FBN2):c.1826C>G (p.Thr609Ser) rs2126958666
NM_001999.4(FBN2):c.1831G>A (p.Asp611Asn)
NM_001999.4(FBN2):c.1832A>C (p.Asp611Ala) rs1752118700
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe) rs1060503507
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr) rs1752093236
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg) rs1060503499
NM_001999.4(FBN2):c.1899del (p.Asn634fs) rs1581250307
NM_001999.4(FBN2):c.18G>T (p.Arg6Ser)
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser) rs748715881
NM_001999.4(FBN2):c.1913G>C (p.Ser638Thr) rs886042112
NM_001999.4(FBN2):c.1922G>A (p.Cys641Tyr) rs863223555
NM_001999.4(FBN2):c.1924A>G (p.Ile642Val) rs863223598
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln) rs1561504900
NM_001999.4(FBN2):c.1943T>C (p.Val648Ala)
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro) rs863223556
NM_001999.4(FBN2):c.1991C>T (p.Thr664Ile) rs2126954772
NM_001999.4(FBN2):c.1996G>A (p.Gly666Arg)
NM_001999.4(FBN2):c.2027G>A (p.Ser676Asn) rs930343991
NM_001999.4(FBN2):c.2029G>A (p.Glu677Lys) rs753334611
NM_001999.4(FBN2):c.2030A>G (p.Glu677Gly) rs2126954710
NM_001999.4(FBN2):c.2034G>T (p.Gly678=) rs1357250229
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr) rs1752034896
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu) rs1581249148
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser) rs1752034485
NM_001999.4(FBN2):c.2060G>T (p.Gly687Val) rs769947673
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn) rs869025430
NM_001999.4(FBN2):c.2066C>G (p.Ala689Gly) rs781745158
NM_001999.4(FBN2):c.2069T>C (p.Val690Ala)
NM_001999.4(FBN2):c.206C>T (p.Ala69Val) rs1756883252
NM_001999.4(FBN2):c.2081G>C (p.Gly694Ala)
NM_001999.4(FBN2):c.2089T>C (p.Cys697Arg)
NM_001999.4(FBN2):c.208G>C (p.Val70Leu) rs1756883199
NM_001999.4(FBN2):c.2092G>T (p.Val698Phe)
NM_001999.4(FBN2):c.2095+1G>A
NM_001999.4(FBN2):c.2095+2_2095+7del rs1752033073
NM_001999.4(FBN2):c.2095+5G>A rs2126954577
NM_001999.4(FBN2):c.2098A>G (p.Thr700Ala)
NM_001999.4(FBN2):c.209T>A (p.Val70Glu)
NM_001999.4(FBN2):c.2105T>G (p.Met702Arg) rs2126947635
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys) rs748861935
NM_001999.4(FBN2):c.2108G>T (p.Arg703Leu)
NM_001999.4(FBN2):c.212C>G (p.Ala71Gly)
NM_001999.4(FBN2):c.2132A>G (p.Lys711Arg) rs1006288282
NM_001999.4(FBN2):c.2140G>A (p.Val714Met)
NM_001999.4(FBN2):c.2148_2151dup (p.Pro718fs) rs2126947501
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
NM_001999.4(FBN2):c.2150G>T (p.Arg717Leu) rs773896695
NM_001999.4(FBN2):c.2155T>C (p.Phe719Leu) rs863223557
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.2164G>T (p.Ala722Ser)
NM_001999.4(FBN2):c.2165C>G (p.Ala722Gly) rs1751864213
NM_001999.4(FBN2):c.2171C>T (p.Thr724Ile)
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn) rs2126947449
NM_001999.4(FBN2):c.2200G>C (p.Asp734His) rs1751863483
NM_001999.4(FBN2):c.2204A>G (p.Tyr735Cys) rs1199450063
NM_001999.4(FBN2):c.2219C>T (p.Pro740Leu) rs1204171410
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser) rs1554064242
NM_001999.4(FBN2):c.2231del (p.Cys744fs)
NM_001999.4(FBN2):c.2248+4G>A rs752467521
NM_001999.4(FBN2):c.2248+9A>T
NM_001999.4(FBN2):c.2257C>T (p.His753Tyr)
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg) rs145259927
NM_001999.4(FBN2):c.2296G>A (p.Gly766Arg) rs1393754058
NM_001999.4(FBN2):c.2303-2A>G rs1751723379
NM_001999.4(FBN2):c.2326C>T (p.Pro776Ser)
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
NM_001999.4(FBN2):c.2334A>G (p.Ile778Met)
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg) rs1751722668
NM_001999.4(FBN2):c.2342A>G (p.Asn781Ser)
NM_001999.4(FBN2):c.2356A>C (p.Asn786His)
NM_001999.4(FBN2):c.2361_2362insAA (p.Arg788fs) rs1554063788
NM_001999.4(FBN2):c.2365G>A (p.Gly789Ser) rs886038969
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg) rs886038969
NM_001999.4(FBN2):c.2384G>C (p.Cys795Ser) rs1057524398
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser) rs1554063781
NM_001999.4(FBN2):c.239A>G (p.Gln80Arg)
NM_001999.4(FBN2):c.2406T>A (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2428+1G>T rs1751719964
NM_001999.4(FBN2):c.2429-1G>A rs1270553787
NM_001999.4(FBN2):c.245T>G (p.Val82Gly)
NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)
NM_001999.4(FBN2):c.2478C>G (p.Cys826Trp) rs1554125090
NM_001999.4(FBN2):c.2479C>G (p.Arg827Gly) rs574985859
NM_001999.4(FBN2):c.2479C>T (p.Arg827Ter)
NM_001999.4(FBN2):c.2489C>G (p.Pro830Arg) rs547769591
NM_001999.4(FBN2):c.248T>C (p.Leu83Pro)
NM_001999.4(FBN2):c.2492G>A (p.Gly831Glu) rs2126937089
NM_001999.4(FBN2):c.2506A>T (p.Thr836Ser)
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr) rs751263399
NM_001999.4(FBN2):c.2516C>T (p.Pro839Leu) rs1283323687
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln) rs747084358
NM_001999.4(FBN2):c.2530A>G (p.Arg844Gly)
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala) rs878854474
NM_001999.4(FBN2):c.254+5G>A
NM_001999.4(FBN2):c.255-3C>G rs2112809259
NM_001999.4(FBN2):c.2554+5G>T rs2126936993
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.256C>T (p.Pro86Ser)
NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)
NM_001999.4(FBN2):c.259A>G (p.Asn87Asp) rs756569459
NM_001999.4(FBN2):c.2602A>G (p.Asn868Asp)
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg) rs1751526889
NM_001999.4(FBN2):c.2615C>A (p.Ser872Tyr)
NM_001999.4(FBN2):c.262G>C (p.Val88Leu)
NM_001999.4(FBN2):c.2639G>A (p.Gly880Asp)
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg) rs1168151418
NM_001999.4(FBN2):c.2648T>A (p.Leu883His)
NM_001999.4(FBN2):c.2674+6A>T rs1381952326
NM_001999.4(FBN2):c.2675-20C>T
NM_001999.4(FBN2):c.2676C>G (p.Asp892Glu)
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_001999.4(FBN2):c.2687G>A (p.Gly896Glu) rs767271613
NM_001999.4(FBN2):c.2698C>G (p.Leu900Val) rs1057524854
NM_001999.4(FBN2):c.2698C>T (p.Leu900Phe) rs1057524854
NM_001999.4(FBN2):c.2701A>G (p.Asn901Asp)
NM_001999.4(FBN2):c.2717G>T (p.Arg906Leu) rs370973542
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg) rs863223599
NM_001999.4(FBN2):c.2725G>A (p.Val909Met)
NM_001999.4(FBN2):c.2735A>G (p.Asn912Ser)
NM_001999.4(FBN2):c.2750A>T (p.Lys917Ile)
NM_001999.4(FBN2):c.2753C>A (p.Ser918Tyr) rs761190567
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.2773G>T (p.Gly925Ter) rs111405756
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr) rs863223559
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser) rs863223559
NM_001999.4(FBN2):c.2782T>G (p.Trp928Gly)
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser) rs779579749
NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp)
NM_001999.4(FBN2):c.2809C>G (p.Leu937Val)
NM_001999.4(FBN2):c.2813A>G (p.Asp938Gly)
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val) rs1751304507
NM_001999.4(FBN2):c.281A>G (p.His94Arg)
NM_001999.4(FBN2):c.2822G>A (p.Cys941Tyr)
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg) rs1751304438
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly) rs863223560
NM_001999.4(FBN2):c.2836G>T (p.Ala946Ser) rs886038950
NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly)
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg) rs766590294
NM_001999.4(FBN2):c.2863+13T>G
NM_001999.4(FBN2):c.2863+19G>A
NM_001999.4(FBN2):c.2863+5G>A
NM_001999.4(FBN2):c.286T>C (p.Tyr96His)
NM_001999.4(FBN2):c.2878G>A (p.Glu960Lys) rs876661212
NM_001999.4(FBN2):c.2879A>G (p.Glu960Gly)
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu) rs1025184275
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys) rs2126919911
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp) rs1554124089
NM_001999.4(FBN2):c.2918A>G (p.Asn973Ser) rs2126919826
NM_001999.4(FBN2):c.2921_2989+510delinsCATA
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg) rs1751283602
NM_001999.4(FBN2):c.2940C>A (p.Cys980Ter)
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr) rs1057519321
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) rs1057519321
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro) rs1751282501
NM_001999.4(FBN2):c.295C>G (p.Pro99Ala) rs1756849074
NM_001999.4(FBN2):c.2960C>G (p.Thr987Arg) rs753482534
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg) rs749854367
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg) rs1756848859
NM_001999.4(FBN2):c.30G>C (p.Gln10His)
NM_001999.4(FBN2):c.311T>A (p.Leu104His)
NM_001999.4(FBN2):c.313C>T (p.Pro105Ser) rs1581379020
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg) rs2112809157
NM_001999.4(FBN2):c.320G>A (p.Gly107Glu)
NM_001999.4(FBN2):c.3218-13A>T rs200543836
NM_001999.4(FBN2):c.3218-5T>G rs1554123647
NM_001999.4(FBN2):c.3220A>G (p.Ile1074Val) rs1218249269
NM_001999.4(FBN2):c.3228A>C (p.Glu1076Asp) rs1751116346
NM_001999.4(FBN2):c.3236C>T (p.Ala1079Val) rs1561781258
NM_001999.4(FBN2):c.3241C>G (p.Pro1081Ala) rs863223601
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3272A>G (p.Asn1091Ser) rs2126912169
NM_001999.4(FBN2):c.3281G>A (p.Gly1094Glu) rs863223563
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
NM_001999.4(FBN2):c.3295C>T (p.Arg1099Cys) rs755510043
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val) rs148127874
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly) rs1751112929
NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)
NM_001999.4(FBN2):c.3343+1996C>T
NM_001999.4(FBN2):c.3345C>G (p.Asp1115Glu)
NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)
NM_001999.4(FBN2):c.3347T>G (p.Ile1116Ser) rs2126903891
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys) rs1348701377
NM_001999.4(FBN2):c.3360G>T (p.Arg1120Ser) rs863223564
NM_001999.4(FBN2):c.3361A>G (p.Ile1121Val)
NM_001999.4(FBN2):c.336C>T (p.Val112=)
NM_001999.4(FBN2):c.3372C>A (p.Asp1124Glu)
NM_001999.4(FBN2):c.338C>T (p.Pro113Leu)
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser) rs2126903780
NM_001999.4(FBN2):c.3413T>G (p.Phe1138Cys)
NM_001999.4(FBN2):c.3421G>A (p.Glu1141Lys)
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser) rs1750918793
NM_001999.4(FBN2):c.3429C>A (p.Phe1143Leu) rs886059901
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp) rs1750918059
NM_001999.4(FBN2):c.3446G>C (p.Gly1149Ala)
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val) rs1042256829
NM_001999.4(FBN2):c.3452T>C (p.Met1151Thr)
NM_001999.4(FBN2):c.3455T>C (p.Met1152Thr)
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3456G>C (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val) rs876661190
NM_001999.4(FBN2):c.3472+3A>G rs1750917005
NM_001999.4(FBN2):c.3473-1G>C rs2126902237
NM_001999.4(FBN2):c.3475A>T (p.Ile1159Phe) rs765793736
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) rs886039059
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His) rs1297011367
NM_001999.4(FBN2):c.3491G>T (p.Arg1164Leu)
NM_001999.4(FBN2):c.3495C>G (p.Asn1165Lys) rs774250442
NM_001999.4(FBN2):c.349_352del (p.Asn117fs)
NM_001999.4(FBN2):c.3507T>C (p.Cys1169=) rs1750894040
NM_001999.4(FBN2):c.350A>G (p.Asn117Ser) rs1756677980
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp) rs931046977
NM_001999.4(FBN2):c.3520T>C (p.Cys1174Arg) rs1554123060
NM_001999.4(FBN2):c.3521G>T (p.Cys1174Phe) rs1581226080
NM_001999.4(FBN2):c.3584G>C (p.Arg1195Pro)
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) rs863223567
NM_001999.4(FBN2):c.3597G>C (p.Val1199=)
NM_001999.4(FBN2):c.3599-1G>A
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe) rs2126898748
NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr) rs1389689622
NM_001999.4(FBN2):c.3617T>C (p.Leu1206Pro) rs1581224796
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr) rs2126898679
NM_001999.4(FBN2):c.3640G>A (p.Gly1214Arg) rs2126898656
NM_001999.4(FBN2):c.3643A>G (p.Lys1215Glu)
NM_001999.4(FBN2):c.3654C>G (p.Asn1218Lys)
NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys)
NM_001999.4(FBN2):c.3676T>G (p.Ser1226Ala) rs202072752
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr) rs1750830797
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala) rs1047464870
NM_001999.4(FBN2):c.3709C>A (p.Arg1237Ser) rs746570981
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3713A>T (p.Gln1238Leu)
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser) rs778784375
NM_001999.4(FBN2):c.3722C>T (p.Thr1241Ile) rs1171139646
NM_001999.4(FBN2):c.3724G>A (p.Asp1242Asn)
NM_001999.4(FBN2):c.3725-3C>T
NM_001999.4(FBN2):c.3727A>G (p.Ile1243Val)
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr) rs1306804578
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu) rs767644891
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly) rs1750812827
NM_001999.4(FBN2):c.3773C>G (p.Thr1258Arg)
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile) rs1554122848
NM_001999.4(FBN2):c.3784G>A (p.Gly1262Arg)
NM_001999.4(FBN2):c.3790T>A (p.Tyr1264Asn)
NM_001999.4(FBN2):c.3811G>T (p.Gly1271Cys) rs745509023
NM_001999.4(FBN2):c.3812G>C (p.Gly1271Ala)
NM_001999.4(FBN2):c.3814T>A (p.Tyr1272Asn)
NM_001999.4(FBN2):c.3815A>C (p.Tyr1272Ser)
NM_001999.4(FBN2):c.3815A>G (p.Tyr1272Cys)
NM_001999.4(FBN2):c.3830A>T (p.Asp1277Val)
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly) rs1561776564
NM_001999.4(FBN2):c.3847+5A>G rs1444917250
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.3856G>C (p.Glu1286Gln) rs2126896995
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser) rs747182286
NM_001999.4(FBN2):c.3871C>A (p.Pro1291Thr)
NM_001999.4(FBN2):c.3874G>T (p.Asp1292Tyr)
NM_001999.4(FBN2):c.3878T>C (p.Ile1293Thr) rs1750804361
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys) rs755489065
NM_001999.4(FBN2):c.3890G>A (p.Gly1297Asp)
NM_001999.4(FBN2):c.3902A>G (p.Asn1301Ser) rs1018624400
NM_001999.4(FBN2):c.3907C>A (p.Pro1303Thr) rs2126896759
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile) rs1554122803
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
NM_001999.4(FBN2):c.3974-3T>A
NM_001999.4(FBN2):c.3974-7T>G
NM_001999.4(FBN2):c.3974-9A>G
NM_001999.4(FBN2):c.3982G>A (p.Glu1328Lys)
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp) rs1394998823
NM_001999.4(FBN2):c.3985T>C (p.Cys1329Arg) rs2126895513
NM_001999.4(FBN2):c.4035G>C (p.Lys1345Asn)
NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
NM_001999.4(FBN2):c.4064G>A (p.Gly1355Asp)
NM_001999.4(FBN2):c.4070C>T (p.Ser1357Leu) rs1750790386
NM_001999.4(FBN2):c.4087A>G (p.Thr1363Ala) rs863223571
NM_001999.4(FBN2):c.4090G>A (p.Gly1364Arg)
NM_001999.4(FBN2):c.4090G>C (p.Gly1364Arg) rs1750789808
NM_001999.4(FBN2):c.4094G>C (p.Cys1365Ser) rs1581223610
NM_001999.4(FBN2):c.4098_4099delinsCA (p.Asp1367Asn)
NM_001999.4(FBN2):c.4099+12G>A
NM_001999.4(FBN2):c.4100A>T (p.Asp1367Val) rs1323355934
NM_001999.4(FBN2):c.4110G>A (p.Glu1370=) rs1205541313
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr) rs971727405
NM_001999.4(FBN2):c.4121G>T (p.Gly1374Val) rs2126892178
NM_001999.4(FBN2):c.4122T>G (p.Gly1374=) rs2126892175
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg) rs1255550274
NM_001999.4(FBN2):c.4132T>C (p.Cys1378Arg) rs863223606
NM_001999.4(FBN2):c.4134C>A (p.Cys1378Ter)
NM_001999.4(FBN2):c.4135G>C (p.Asp1379His)
NM_001999.4(FBN2):c.4140G>C (p.Met1380Ile)
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_001999.4(FBN2):c.4157A>C (p.Asn1386Thr)
NM_001999.4(FBN2):c.4157A>G (p.Asn1386Ser)
NM_001999.4(FBN2):c.4180A>C (p.Ser1394Arg)
NM_001999.4(FBN2):c.4184G>T (p.Cys1395Phe) rs886038935
NM_001999.4(FBN2):c.4193G>T (p.Gly1398Val) rs2126892048
NM_001999.4(FBN2):c.4195T>G (p.Trp1399Gly)
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val) rs1750732608
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4222+5G>C rs1554122550
NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)
NM_001999.4(FBN2):c.4231G>A (p.Glu1411Lys) rs866719857
NM_001999.4(FBN2):c.4235G>A (p.Cys1412Tyr)
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn) rs1750669779
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile) rs1750669779
NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr) rs863223572
NM_001999.4(FBN2):c.4250A>G (p.His1417Arg) rs1750669577
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala) rs1060503506
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu) rs863223607
NM_001999.4(FBN2):c.4267G>T (p.Ala1423Ser)
NM_001999.4(FBN2):c.4268C>T (p.Ala1423Val)
NM_001999.4(FBN2):c.4289G>A (p.Gly1430Asp)
NM_001999.4(FBN2):c.4292C>T (p.Ser1431Leu)
NM_001999.4(FBN2):c.4303G>T (p.Ala1435Ser)
NM_001999.4(FBN2):c.4316G>A (p.Gly1439Asp) rs886039151
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile) rs1750666696
NM_001999.4(FBN2):c.4324G>T (p.Gly1442Cys)
NM_001999.4(FBN2):c.4325G>T (p.Gly1442Val) rs1581220577
NM_001999.4(FBN2):c.434C>A (p.Ser145Ter)
NM_001999.4(FBN2):c.4357T>C (p.Cys1453Arg) rs2126886879
NM_001999.4(FBN2):c.435A>G (p.Ser145=)
NM_001999.4(FBN2):c.436+4T>G
NM_001999.4(FBN2):c.4360G>A (p.Ala1454Thr)
NM_001999.4(FBN2):c.4363G>A (p.Glu1455Lys) rs756212784
NM_001999.4(FBN2):c.437-1G>A rs1180913191
NM_001999.4(FBN2):c.4375C>G (p.Leu1459Val) rs863223573
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly) rs1750620648
NM_001999.4(FBN2):c.4390C>G (p.Gln1464Glu) rs1750620267
NM_001999.4(FBN2):c.4408G>A (p.Gly1470Ser) rs1750619785
NM_001999.4(FBN2):c.4411G>A (p.Ala1471Thr) rs2126886739
NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala)
NM_001999.4(FBN2):c.4444C>T (p.Pro1482Ser) rs1022830212
NM_001999.4(FBN2):c.4461A>T (p.Arg1487Ser) rs797045573
NM_001999.4(FBN2):c.4471+6T>G
NM_001999.4(FBN2):c.4472-18_4472-17delinsA rs863223596
NM_001999.4(FBN2):c.4472-2A>G rs1554121102
NM_001999.4(FBN2):c.4472-3C>T
NM_001999.4(FBN2):c.4472A>T (p.Asp1491Val) rs2126854670
NM_001999.4(FBN2):c.4474A>T (p.Ile1492Phe) rs775167440
NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe)
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile) rs779482726
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala) rs1581212696
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg) rs1750289332
NM_001999.4(FBN2):c.4540C>T (p.His1514Tyr) rs863223608
NM_001999.4(FBN2):c.4552G>A (p.Asp1518Asn)
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val) rs886038767
NM_001999.4(FBN2):c.455G>A (p.Arg152Lys) rs754613587
NM_001999.4(FBN2):c.4571A>G (p.Asp1524Gly)
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg) rs2126854542
NM_001999.4(FBN2):c.4589G>A (p.Cys1530Tyr) rs2126854530
NM_001999.4(FBN2):c.4589G>T (p.Cys1530Phe)
NM_001999.4(FBN2):c.4594+3A>G
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn) rs863223574
NM_001999.4(FBN2):c.4594G>T (p.Asp1532Tyr)
NM_001999.4(FBN2):c.4615C>G (p.Pro1539Ala) rs761783629
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile) rs1554121038
NM_001999.4(FBN2):c.4640G>A (p.Cys1547Tyr) rs2126853762
NM_001999.4(FBN2):c.4646A>G (p.Asn1549Ser) rs863223575
NM_001999.4(FBN2):c.4649C>T (p.Thr1550Met)
NM_001999.4(FBN2):c.4657C>G (p.Arg1553Gly)
NM_001999.4(FBN2):c.4658G>A (p.Arg1553His)
NM_001999.4(FBN2):c.4658G>C (p.Arg1553Pro)
NM_001999.4(FBN2):c.4661A>T (p.Tyr1554Phe)
NM_001999.4(FBN2):c.4672T>A (p.Cys1558Ser)
NM_001999.4(FBN2):c.4696C>A (p.Pro1566Thr)
NM_001999.4(FBN2):c.4709G>C (p.Gly1570Ala)
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
NM_001999.4(FBN2):c.4712G>C (p.Cys1571Ser) rs1750262781
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe) rs535517270
NM_001999.4(FBN2):c.4717+8A>G rs1750262267
NM_001999.4(FBN2):c.4723C>T (p.Arg1575Cys) rs1581208614
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala) rs1581208599
NM_001999.4(FBN2):c.4729G>T (p.Gly1577Cys)
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His) rs1060503508
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4757GAG[1] (p.Gly1587del) rs2126847728
NM_001999.4(FBN2):c.4762G>T (p.Asp1588Tyr) rs1581208564
NM_001999.4(FBN2):c.4770T>G (p.Ser1590Arg) rs1295579995
NM_001999.4(FBN2):c.4810T>C (p.Ser1604Pro) rs2126847651
NM_001999.4(FBN2):c.4824C>T (p.Cys1608=) rs886059899
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro) rs886038891
NM_001999.4(FBN2):c.4831G>A (p.Gly1611Arg) rs2126847628
NM_001999.4(FBN2):c.4831G>T (p.Gly1611Ter) rs2126847628
NM_001999.4(FBN2):c.4835A>G (p.Lys1612Arg) rs2126847622
NM_001999.4(FBN2):c.4838C>G (p.Ala1613Gly)
NM_001999.4(FBN2):c.4858_4861del (p.Thr1620fs)
NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp) rs1420949011
NM_001999.4(FBN2):c.4864C>G (p.Pro1622Ala) rs750116860
NM_001999.4(FBN2):c.4877G>A (p.Ser1626Asn)
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile) rs1403929477
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro) rs1561765113
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
NM_001999.4(FBN2):c.489C>G (p.His163Gln) rs2112798145
NM_001999.4(FBN2):c.4919G>T (p.Arg1640Ile)
NM_001999.4(FBN2):c.4924A>G (p.Asn1642Asp)
NM_001999.4(FBN2):c.4925A>G (p.Asn1642Ser)
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg) rs863223609
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.4949-3T>A rs863223576
NM_001999.4(FBN2):c.4957G>A (p.Glu1653Lys)
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp) rs1554120359
NM_001999.4(FBN2):c.4961G>T (p.Cys1654Phe)
NM_001999.4(FBN2):c.4978C>A (p.Leu1660Ile)
NM_001999.4(FBN2):c.4994A>G (p.Asn1665Ser) rs886038773
NM_001999.4(FBN2):c.5003A>G (p.Asn1668Ser)
NM_001999.4(FBN2):c.5023T>C (p.Cys1675Arg)
NM_001999.4(FBN2):c.5030G>A (p.Cys1677Tyr) rs2126846195
NM_001999.4(FBN2):c.5032C>G (p.Pro1678Ala)
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His) rs1554120349
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys) rs769474473
NM_001999.4(FBN2):c.5050A>G (p.Ser1684Gly) rs863223577
NM_001999.4(FBN2):c.5062C>T (p.Arg1688Cys)
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr) rs1554120340
NM_001999.4(FBN2):c.5073A>G (p.Glu1691=)
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser)
NM_001999.4(FBN2):c.5093C>T (p.Ala1698Val)
NM_001999.4(FBN2):c.5116G>C (p.Gly1706Arg)
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser) rs1749990667
NM_001999.4(FBN2):c.5124C>G (p.Cys1708Trp)
NM_001999.4(FBN2):c.5147C>G (p.Thr1716Ser) rs2126843757
NM_001999.4(FBN2):c.514G>A (p.Gly172Arg)
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe) rs1554120186
NM_001999.4(FBN2):c.5176G>A (p.Val1726Ile)
NM_001999.4(FBN2):c.5183G>T (p.Gly1728Val)
NM_001999.4(FBN2):c.5185G>C (p.Gly1729Arg) rs2126843730
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5200+5_5200+10del
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser)
NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala)
NM_001999.4(FBN2):c.5275A>G (p.Lys1759Glu) rs201113098
NM_001999.4(FBN2):c.5279G>C (p.Arg1760Thr) rs748580764
NM_001999.4(FBN2):c.5280G>T (p.Arg1760Ser) rs886059898
NM_001999.4(FBN2):c.5281A>T (p.Met1761Leu) rs886059897
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile) rs2126842957
NM_001999.4(FBN2):c.529C>T (p.Gln177Ter)
NM_001999.4(FBN2):c.5312C>T (p.Ala1771Val) rs2126842904
NM_001999.4(FBN2):c.531A>G (p.Gln177=) rs863223544
NM_001999.4(FBN2):c.532+1G>A
NM_001999.4(FBN2):c.533-11T>A
NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)
NM_001999.4(FBN2):c.5339C>G (p.Pro1780Arg)
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser) rs1554120093
NM_001999.4(FBN2):c.535G>C (p.Val179Leu)
NM_001999.4(FBN2):c.5374_5376delinsTTTAAAGTG (p.Gly1792delinsPheLysVal)
NM_001999.4(FBN2):c.5397T>G (p.Phe1799Leu)
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr) rs1554075372
NM_001999.4(FBN2):c.5401A>G (p.Ile1801Val)
NM_001999.4(FBN2):c.5420T>C (p.Val1807Ala)
NM_001999.4(FBN2):c.5423-17A>G rs2126839337
NM_001999.4(FBN2):c.5423-1G>C
NM_001999.4(FBN2):c.5427T>G (p.Ile1809Met) rs756365546
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly) rs1749861614
NM_001999.4(FBN2):c.5443A>T (p.Ile1815Phe)
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala) rs1561760487
NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val)
NM_001999.4(FBN2):c.5462A>G (p.Asn1821Ser)
NM_001999.4(FBN2):c.5484T>G (p.Ile1828Met)
NM_001999.4(FBN2):c.5493C>G (p.Phe1831Leu)
NM_001999.4(FBN2):c.5507C>A (p.Pro1836His) rs1490178038
NM_001999.4(FBN2):c.5518del (p.Ser1840fs) rs1749857249
NM_001999.4(FBN2):c.5528A>G (p.Asp1843Gly) rs2126839169
NM_001999.4(FBN2):c.5531T>C (p.Leu1844Pro) rs755917639
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg) rs1749856162
NM_001999.4(FBN2):c.5548G>A (p.Asp1850Asn)
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
NM_001999.4(FBN2):c.5552T>G (p.Ile1851Arg)
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly) rs1749848470
NM_001999.4(FBN2):c.5555A>T (p.Asp1852Val)
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys) rs1201284691
NM_001999.4(FBN2):c.5569G>A (p.Gly1857Ser) rs2126838900
NM_001999.4(FBN2):c.5579T>C (p.Leu1860Pro)
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln) rs1447600676
NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)
NM_001999.4(FBN2):c.5597A>G (p.Asp1866Gly)
NM_001999.4(FBN2):c.55G>A (p.Val19Met) rs1357709072
NM_001999.4(FBN2):c.5600G>A (p.Cys1867Tyr) rs2126838836
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser) rs1749845932
NM_001999.4(FBN2):c.5614G>A (p.Gly1872Ser) rs765693888
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg) rs1060503504
NM_001999.4(FBN2):c.5617dup (p.Ser1873fs) rs1561760194
NM_001999.4(FBN2):c.5624G>A (p.Arg1875His) rs766786574
NM_001999.4(FBN2):c.5632T>C (p.Cys1878Arg) rs1248957106
NM_001999.4(FBN2):c.5674+4A>G rs778011355
NM_001999.4(FBN2):c.5690T>C (p.Leu1897Ser)
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln) rs767932789
NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe)
NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)
NM_001999.4(FBN2):c.5750G>A (p.Cys1917Tyr)
NM_001999.4(FBN2):c.5759A>G (p.His1920Arg) rs1554119710
NM_001999.4(FBN2):c.5779C>A (p.Gln1927Lys)
NM_001999.4(FBN2):c.5780A>C (p.Gln1927Pro)
NM_001999.4(FBN2):c.5789C>A (p.Thr1930Asn)
NM_001999.4(FBN2):c.578C>T (p.Pro193Leu)
NM_001999.4(FBN2):c.5800+6A>T rs2126838039
NM_001999.4(FBN2):c.5801-5T>G rs571282132
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del) rs1554119538
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp) rs755672868
NM_001999.4(FBN2):c.581A>C (p.Asn194Thr)
NM_001999.4(FBN2):c.5824C>G (p.Pro1942Ala) rs761603109
NM_001999.4(FBN2):c.583C>T (p.Arg195Cys) rs1561495424
NM_001999.4(FBN2):c.584G>A (p.Arg195His) rs746890032
NM_001999.4(FBN2):c.5885G>C (p.Gly1962Ala) rs2126835947
NM_001999.4(FBN2):c.5896A>G (p.Thr1966Ala) rs863223579
NM_001999.4(FBN2):c.5899C>G (p.His1967Asp)
NM_001999.4(FBN2):c.58G>T (p.Val20Leu) rs756126862
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu) rs1749761553
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr) rs1749718755
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp) rs1561757902
NM_001999.4(FBN2):c.5950G>A (p.Val1984Met) rs1064796333
NM_001999.4(FBN2):c.595G>A (p.Val199Ile) rs1561495409
NM_001999.4(FBN2):c.5976T>A (p.Asn1992Lys) rs1749717202
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly) rs1749717138
NM_001999.4(FBN2):c.5984G>C (p.Gly1995Ala) rs762268575
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser) rs754066538
NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)
NM_001999.4(FBN2):c.6016G>A (p.Glu2006Lys)
NM_001999.4(FBN2):c.6026C>T (p.Pro2009Leu)
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu) rs776937649
NM_001999.4(FBN2):c.6031G>A (p.Gly2011Ser)
NM_001999.4(FBN2):c.6033del (p.Asn2013fs) rs2126834363
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val) rs1202188687
NM_001999.4(FBN2):c.6045A>G (p.Ile2015Met) rs770585421
NM_001999.4(FBN2):c.6046+10T>C rs1179452976
NM_001999.4(FBN2):c.6046+2T>C rs1581200259
NM_001999.4(FBN2):c.6046+4_6046+7del
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His) rs1749711886
NM_001999.4(FBN2):c.6050C>T (p.Thr2017Ile)
NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys) rs1554119321
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly) rs1749697561
NM_001999.4(FBN2):c.6089G>T (p.Gly2030Val)
NM_001999.4(FBN2):c.6105G>C (p.Leu2035Phe)
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly) rs886038814
NM_001999.4(FBN2):c.6131C>T (p.Pro2044Leu)
NM_001999.4(FBN2):c.6145G>C (p.Val2049Leu)
NM_001999.4(FBN2):c.6152G>T (p.Ser2051Ile)
NM_001999.4(FBN2):c.6160T>A (p.Cys2054Ser)
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
NM_001999.4(FBN2):c.6167-1G>C
NM_001999.4(FBN2):c.6167-3C>A rs878854477
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6167A>G (p.Asp2056Gly)
NM_001999.4(FBN2):c.6173A>G (p.Asn2058Ser)
NM_001999.4(FBN2):c.6177A>C (p.Glu2059Asp) rs193920763
NM_001999.4(FBN2):c.6185A>G (p.Glu2062Gly)
NM_001999.4(FBN2):c.6209G>T (p.Gly2070Val) rs1749324727
NM_001999.4(FBN2):c.6221A>G (p.Asn2074Ser) rs2126822099
NM_001999.4(FBN2):c.6228A>G (p.Pro2076=) rs1749324052
NM_001999.4(FBN2):c.6229G>A (p.Gly2077Arg)
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala) rs753305406
NM_001999.4(FBN2):c.6244_6246del (p.Leu2082del) rs2126822071
NM_001999.4(FBN2):c.6253C>A (p.Pro2085Thr) rs34845843
NM_001999.4(FBN2):c.6253C>T (p.Pro2085Ser)
NM_001999.4(FBN2):c.6254C>G (p.Pro2085Arg) rs2126822046
NM_001999.4(FBN2):c.6262G>T (p.Val2088Leu) rs893616190
NM_001999.4(FBN2):c.6269C>G (p.Ser2090Cys)
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe) rs878854478
NM_001999.4(FBN2):c.6277G>A (p.Gly2093Arg)
NM_001999.4(FBN2):c.628+3A>G
NM_001999.4(FBN2):c.628+4A>C
NM_001999.4(FBN2):c.6280C>T (p.Arg2094Trp) rs1262453464
NM_001999.4(FBN2):c.629-3C>G rs376491648
NM_001999.4(FBN2):c.6292+6A>G
NM_001999.4(FBN2):c.6299G>A (p.Arg2100His) rs746758405
NM_001999.4(FBN2):c.631T>G (p.Tyr211Asp) rs1554071528
NM_001999.4(FBN2):c.6341C>G (p.Ser2114Cys) rs1409787236
NM_001999.4(FBN2):c.6346C>T (p.Pro2116Ser)
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu) rs2126821327
NM_001999.4(FBN2):c.6353C>T (p.Ala2118Val)
NM_001999.4(FBN2):c.640G>A (p.Gly214Ser)
NM_001999.4(FBN2):c.6414C>G (p.Asp2138Glu) rs1449873424
NM_001999.4(FBN2):c.6415C>T (p.Pro2139Ser) rs1266965965
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
NM_001999.4(FBN2):c.6445+3A>G
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly) rs191065419
NM_001999.4(FBN2):c.644C>T (p.Pro215Leu) rs2127084495
NM_001999.4(FBN2):c.6454C>T (p.Gln2152Ter)
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594
NM_001999.4(FBN2):c.6497A>G (p.His2166Arg) rs1388581442
NM_001999.4(FBN2):c.6506G>A (p.Arg2169His)
NM_001999.4(FBN2):c.6511+4C>A rs368610241
NM_001999.4(FBN2):c.6512-2A>G rs863223580
NM_001999.4(FBN2):c.6512-2A>T
NM_001999.4(FBN2):c.6526C>T (p.Leu2176Phe)
NM_001999.4(FBN2):c.6546T>G (p.Cys2182Trp) rs1554118137
NM_001999.4(FBN2):c.6556C>T (p.Gln2186Ter) rs1415043313
NM_001999.4(FBN2):c.6560G>C (p.Cys2187Ser) rs1471927589
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser) rs1561750168
NM_001999.4(FBN2):c.6575G>C (p.Gly2192Ala)
NM_001999.4(FBN2):c.6583C>T (p.Arg2195Cys) rs886059896
NM_001999.4(FBN2):c.6591A>G (p.Glu2197=) rs886059895
NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro)
NM_001999.4(FBN2):c.6620C>T (p.Thr2207Ile)
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu) rs200489152
NM_001999.4(FBN2):c.6623G>C (p.Gly2208Ala) rs200489152
NM_001999.4(FBN2):c.6625G>T (p.Val2209Leu)
NM_001999.4(FBN2):c.6645T>A (p.Asp2215Glu) rs2126818736
NM_001999.4(FBN2):c.6663T>A (p.Asn2221Lys) rs2126818692
NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile) rs863223583
NM_001999.4(FBN2):c.6689A>G (p.Asn2230Ser) rs863223584
NM_001999.4(FBN2):c.6700A>G (p.Ser2234Gly) rs1749221516
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser) rs863223612
NM_001999.4(FBN2):c.672G>A (p.Met224Ile) rs371292311
NM_001999.4(FBN2):c.6748A>T (p.Asn2250Tyr)
NM_001999.4(FBN2):c.6757+1G>A
NM_001999.4(FBN2):c.6757+2C>T
NM_001999.4(FBN2):c.6757+3A>G rs1057523248
NM_001999.4(FBN2):c.6758-11C>T rs1749187127
NM_001999.4(FBN2):c.6760A>T (p.Ile2254Phe)
NM_001999.4(FBN2):c.6764A>G (p.Asn2255Ser) rs886039147
NM_001999.4(FBN2):c.67G>A (p.Ala23Thr)
NM_001999.4(FBN2):c.6814T>G (p.Phe2272Val) rs1749185390
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala) rs1060503500
NM_001999.4(FBN2):c.6841A>G (p.Ile2281Val)
NM_001999.4(FBN2):c.6848A>G (p.Tyr2283Cys) rs1749183860
NM_001999.4(FBN2):c.6856A>G (p.Arg2286Gly)
NM_001999.4(FBN2):c.6868A>C (p.Lys2290Gln) rs2126817406
NM_001999.4(FBN2):c.6869A>G (p.Lys2290Arg) rs2126817399
NM_001999.4(FBN2):c.6870G>C (p.Lys2290Asn)
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile) rs1581189176
NM_001999.4(FBN2):c.6880+6G>A
NM_001999.4(FBN2):c.6880+6G>C rs1271195305
NM_001999.4(FBN2):c.6880+8C>T rs1749181973
NM_001999.4(FBN2):c.6881-1G>A
NM_001999.4(FBN2):c.6881-1G>T
NM_001999.4(FBN2):c.6881-3T>C
NM_001999.4(FBN2):c.6894T>A (p.Cys2298Ter)
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys) rs1419124277
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu) rs199560824
NM_001999.4(FBN2):c.6909C>A (p.His2303Gln)
NM_001999.4(FBN2):c.6911A>G (p.Asp2304Gly)
NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)
NM_001999.4(FBN2):c.6948C>G (p.Ile2316Met) rs17608368
NM_001999.4(FBN2):c.6955T>C (p.Phe2319Leu) rs863223585
NM_001999.4(FBN2):c.6975T>A (p.Pro2325=) rs1274780641
NM_001999.4(FBN2):c.6977G>C (p.Gly2326Ala) rs1554117875
NM_001999.4(FBN2):c.697G>A (p.Val233Ile)
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter) rs1287289593
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu) rs370804151
NM_001999.4(FBN2):c.7011A>G (p.Val2337=) rs2126816680
NM_001999.4(FBN2):c.7012+7G>C rs199735209
NM_001999.4(FBN2):c.7013-7_7013-5delinsCC
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser) rs1581184433
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala) rs764330020
NM_001999.4(FBN2):c.7080C>A (p.Ser2360Arg)
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys) rs771718967
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr) rs771718967
NM_001999.4(FBN2):c.7109A>G (p.Gln2370Arg)
NM_001999.4(FBN2):c.7112C>G (p.Ser2371Ter) rs1461140915
NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)
NM_001999.4(FBN2):c.7118C>T (p.Ser2373Phe)
NM_001999.4(FBN2):c.7137T>C (p.Leu2379=)
NM_001999.4(FBN2):c.7138G>A (p.Asp2380Asn) rs886059893
NM_001999.4(FBN2):c.7138G>C (p.Asp2380His) rs886059893
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly) rs1765463264
NM_001999.4(FBN2):c.7153C>A (p.Leu2385Ile)
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val) rs754380350
NM_001999.4(FBN2):c.7168G>A (p.Val2390Ile) rs768193630
NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)
NM_001999.4(FBN2):c.7184G>A (p.Cys2395Tyr)
NM_001999.4(FBN2):c.7184_7185delinsTC (p.Cys2395Phe)
NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)
NM_001999.4(FBN2):c.7195T>A (p.Ser2399Thr) rs1554117123
NM_001999.4(FBN2):c.7195T>G (p.Ser2399Ala)
NM_001999.4(FBN2):c.7199_7200delinsCC (p.Ser2400Thr) rs2126809625
NM_001999.4(FBN2):c.71A>G (p.Gln24Arg) rs764396688
NM_001999.4(FBN2):c.7200_7201delinsCC (p.Ser2401Arg)
NM_001999.4(FBN2):c.7201A>C (p.Ser2401Arg) rs777558947
NM_001999.4(FBN2):c.7205G>T (p.Arg2402Leu) rs148014419
NM_001999.4(FBN2):c.7205_7206delinsTT (p.Arg2402Leu)
NM_001999.4(FBN2):c.7241G>A (p.Gly2414Asp)
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val) rs2126809569
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val) rs886038938
NM_001999.4(FBN2):c.7259A>C (p.His2420Pro) rs2126809547
NM_001999.4(FBN2):c.7260C>G (p.His2420Gln) rs775251012
NM_001999.4(FBN2):c.7273T>C (p.Cys2425Arg)
NM_001999.4(FBN2):c.7316A>G (p.His2439Arg)
NM_001999.4(FBN2):c.7345+6G>A
NM_001999.4(FBN2):c.7346-3C>T rs1439389862
NM_001999.4(FBN2):c.734G>C (p.Arg245Pro) rs747507457
NM_001999.4(FBN2):c.7369C>T (p.Pro2457Ser) rs863223587
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile) rs1019541548
NM_001999.4(FBN2):c.7396A>C (p.Ile2466Leu)
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln) rs28763925
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu) rs1765435966
NM_001999.4(FBN2):c.7433T>C (p.Val2478Ala)
NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala)
NM_001999.4(FBN2):c.7445C>T (p.Thr2482Ile) rs2126808771
NM_001999.4(FBN2):c.7448A>T (p.Asp2483Val)
NM_001999.4(FBN2):c.7459A>G (p.Thr2487Ala) rs2126808746
NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro) rs1056653104
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr) rs779483120
NM_001999.4(FBN2):c.7487C>A (p.Ser2496Tyr)
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp) rs2112811070
NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=) rs1060503502
NM_001999.4(FBN2):c.7543T>G (p.Cys2515Gly)
NM_001999.4(FBN2):c.7546T>C (p.Ser2516Pro) rs2126807303
NM_001999.4(FBN2):c.7547C>T (p.Ser2516Leu) rs797045574
NM_001999.4(FBN2):c.7559G>A (p.Gly2520Glu) rs766586054
NM_001999.4(FBN2):c.7561T>C (p.Tyr2521His)
NM_001999.4(FBN2):c.7562A>G (p.Tyr2521Cys) rs2126807281
NM_001999.4(FBN2):c.756G>T (p.Glu252Asp) rs565550310
NM_001999.4(FBN2):c.7571A>C (p.Gln2524Pro)
NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp)
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val) rs768941456
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln) rs894902794
NM_001999.4(FBN2):c.7582A>G (p.Lys2528Glu)
NM_001999.4(FBN2):c.7588T>C (p.Cys2530Arg)
NM_001999.4(FBN2):c.7594G>A (p.Asp2532Asn)
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter) rs1453328210
NM_001999.4(FBN2):c.761G>C (p.Cys254Ser) rs755760127
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe) rs755760127
NM_001999.4(FBN2):c.7626C>G (p.Asn2542Lys)
NM_001999.4(FBN2):c.7636C>G (p.Leu2546Val) rs863223588
NM_001999.4(FBN2):c.764C>T (p.Pro255Leu) rs886059903
NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)
NM_001999.4(FBN2):c.7658G>A (p.Gly2553Glu)
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala) rs764514988
NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) rs1765343397
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly) rs863223589
NM_001999.4(FBN2):c.7679C>T (p.Pro2560Leu)
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr) rs1765342729
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val) rs572453085
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg) rs2126805299
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala) rs1447205905
NM_001999.4(FBN2):c.7771A>G (p.Thr2591Ala) rs869025429
NM_001999.4(FBN2):c.7796G>A (p.Cys2599Tyr) rs1554116599
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser) rs762538141
NM_001999.4(FBN2):c.7840+1G>A
NM_001999.4(FBN2):c.7841-3C>T rs1554116417
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu) rs1554116412
NM_001999.4(FBN2):c.7860G>T (p.Gly2620=) rs772818240
NM_001999.4(FBN2):c.7868G>A (p.Arg2623Lys)
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter) rs1554116411
NM_001999.4(FBN2):c.7897G>A (p.Gly2633Ser) rs886059892
NM_001999.4(FBN2):c.7900G>A (p.Gly2634Ser)
NM_001999.4(FBN2):c.7901G>A (p.Gly2634Asp) rs756511141
NM_001999.4(FBN2):c.7912G>A (p.Gly2638Ser)
NM_001999.4(FBN2):c.7913G>A (p.Gly2638Asp)
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala) rs1060503512
NM_001999.4(FBN2):c.791G>C (p.Gly264Ala) rs746046058
NM_001999.4(FBN2):c.7938C>G (p.His2646Gln) rs886038837
NM_001999.4(FBN2):c.7957G>A (p.Val2653Ile)
NM_001999.4(FBN2):c.7959C>A (p.Val2653=) rs773175830
NM_001999.4(FBN2):c.7960G>A (p.Asp2654Asn)
NM_001999.4(FBN2):c.7961A>G (p.Asp2654Gly)
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro) rs1765039937
NM_001999.4(FBN2):c.7981C>T (p.Pro2661Ser) rs2126795744
NM_001999.4(FBN2):c.7994G>C (p.Gly2665Ala)
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser) rs1229950368
NM_001999.4(FBN2):c.8014A>G (p.Thr2672Ala)
NM_001999.4(FBN2):c.8028C>A (p.Tyr2676Ter) rs1388755471
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser) rs1765038866
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser) rs763870762
NM_001999.4(FBN2):c.8041C>T (p.Pro2681Ser)
NM_001999.4(FBN2):c.8042C>T (p.Pro2681Leu)
NM_001999.4(FBN2):c.8045_8046delinsTC (p.Ser2682Phe)
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu) rs749888746
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu) rs863223597
NM_001999.4(FBN2):c.8078G>T (p.Cys2693Phe) rs2126795619
NM_001999.4(FBN2):c.8080C>T (p.His2694Tyr) rs1387382061
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp) rs1765035115
NM_001999.4(FBN2):c.8096G>A (p.Cys2699Tyr) rs2126795584
NM_001999.4(FBN2):c.8098T>A (p.Ser2700Thr)
NM_001999.4(FBN2):c.8098T>C (p.Ser2700Pro) rs1160756542
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp) rs776788539
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.4(FBN2):c.80C>A (p.Ala27Asp)
NM_001999.4(FBN2):c.80C>T (p.Ala27Val)
NM_001999.4(FBN2):c.8117G>A (p.Cys2706Tyr)
NM_001999.4(FBN2):c.8117G>T (p.Cys2706Phe) rs1010740898
NM_001999.4(FBN2):c.8119A>C (p.Asn2707His) rs886039073
NM_001999.4(FBN2):c.811A>G (p.Thr271Ala) rs201988564
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser) rs1182788018
NM_001999.4(FBN2):c.812C>G (p.Thr271Ser) rs1754660014
NM_001999.4(FBN2):c.8132C>G (p.Ser2711Cys) rs758149534
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met) rs754101758
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=) rs1057523293
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8143G>T (p.Gly2715Trp) rs772569905
NM_001999.4(FBN2):c.8144G>A (p.Gly2715Glu) rs2126795483
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val) rs1561736199
NM_001999.4(FBN2):c.8167C>G (p.Pro2723Ala)
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser) rs1765029329
NM_001999.4(FBN2):c.8192+6G>A rs752575354
NM_001999.4(FBN2):c.8193-4A>G rs200964477
NM_001999.4(FBN2):c.8193C>T (p.Gly2731=)
NM_001999.4(FBN2):c.8212G>A (p.Gly2738Arg) rs1764985607
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=) rs775766250
NM_001999.4(FBN2):c.824A>C (p.Gln275Pro)
NM_001999.4(FBN2):c.8261A>G (p.Glu2754Gly)
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala) rs1158966833
NM_001999.4(FBN2):c.8279A>C (p.Glu2760Ala) rs56023452
NM_001999.4(FBN2):c.827A>T (p.Asp276Val)
NM_001999.4(FBN2):c.8283A>G (p.Ala2761=) rs1764983104
NM_001999.4(FBN2):c.8290G>A (p.Glu2764Lys)
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile) rs1764982741
NM_001999.4(FBN2):c.82G>C (p.Gly28Arg) rs772841538
NM_001999.4(FBN2):c.8309A>G (p.Tyr2770Cys) rs546129957
NM_001999.4(FBN2):c.8315A>C (p.Lys2772Thr) rs1308073420
NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)
NM_001999.4(FBN2):c.832G>C (p.Asp278His) rs2127056965
NM_001999.4(FBN2):c.835G>A (p.Glu279Lys) rs2127056955
NM_001999.4(FBN2):c.8360C>G (p.Thr2787Ser) rs1764978341
NM_001999.4(FBN2):c.8363C>T (p.Ala2788Val)
NM_001999.4(FBN2):c.8364+2T>C rs2126793713
NM_001999.4(FBN2):c.8364+7A>G rs185052980
NM_001999.4(FBN2):c.8365-13G>A rs779409691
NM_001999.4(FBN2):c.8366T>C (p.Val2789Ala)
NM_001999.4(FBN2):c.8374A>G (p.Ile2792Val)
NM_001999.4(FBN2):c.8376C>T (p.Ile2792=) rs142747169
NM_001999.4(FBN2):c.8383G>A (p.Glu2795Lys)
NM_001999.4(FBN2):c.8395A>G (p.Met2799Val)
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
NM_001999.4(FBN2):c.83G>A (p.Gly28Asp)
NM_001999.4(FBN2):c.8413A>T (p.Met2805Leu)
NM_001999.4(FBN2):c.8414T>G (p.Met2805Arg)
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe) rs1764918027
NM_001999.4(FBN2):c.8435T>A (p.Leu2812His)
NM_001999.4(FBN2):c.844G>A (p.Ala282Thr) rs772005485
NM_001999.4(FBN2):c.844G>T (p.Ala282Ser)
NM_001999.4(FBN2):c.8454C>G (p.Ile2818Met) rs2126791949
NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr)
NM_001999.4(FBN2):c.8470G>T (p.Ala2824Ser) rs868262960
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His) rs1161871936
NM_001999.4(FBN2):c.847A>G (p.Ile283Val)
NM_001999.4(FBN2):c.8482C>T (p.Leu2828Phe) rs2126791897
NM_001999.4(FBN2):c.848T>C (p.Ile283Thr)
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter) rs1060503503
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val) rs1249852107
NM_001999.4(FBN2):c.8506A>T (p.Ile2836Phe)
NM_001999.4(FBN2):c.8520C>G (p.Asn2840Lys) rs139098335
NM_001999.4(FBN2):c.8521G>A (p.Asp2841Asn)
NM_001999.4(FBN2):c.8527A>G (p.Ser2843Gly) rs1764914190
NM_001999.4(FBN2):c.8528_8529delinsTT (p.Ser2843Ile) rs2126791814
NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu) rs200345491
NM_001999.4(FBN2):c.853G>C (p.Gly285Arg) rs2127056896
NM_001999.4(FBN2):c.8541C>G (p.Ile2847Met) rs62374973
NM_001999.4(FBN2):c.8545C>G (p.Gln2849Glu)
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=) rs1561733846
NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser) rs886059891
NM_001999.4(FBN2):c.8597G>T (p.Gly2866Val) rs886038818
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys) rs762956345
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val) rs1554115164
NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)
NM_001999.4(FBN2):c.8648T>C (p.Leu2883Pro) rs863223614
NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn) rs2126791602
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu) rs1754069364
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys) rs779659640
NM_001999.4(FBN2):c.8692G>T (p.Glu2898Ter) rs876661196
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
NM_001999.4(FBN2):c.8729A>G (p.Gln2910Arg) rs1764904392
NM_001999.4(FBN2):c.872A>C (p.Asn291Thr) rs1754069147
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile) rs887275019
NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)
NM_001999.4(FBN2):c.875G>C (p.Cys292Ser)
NM_001999.4(FBN2):c.878T>C (p.Ile293Thr)
NM_001999.4(FBN2):c.879C>G (p.Ile293Met) rs1180679857
NM_001999.4(FBN2):c.893C>A (p.Ser298Tyr) rs577855501
NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr) rs863223616
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser) rs1554069994
NM_001999.4(FBN2):c.920A>G (p.His307Arg) rs1754067808
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
NM_001999.4(FBN2):c.930T>A (p.Ser310Arg)
NM_001999.4(FBN2):c.93G>C (p.Gln31His) rs371491169
NM_001999.4(FBN2):c.952+3G>T rs1554069982
NM_001999.4(FBN2):c.991A>G (p.Thr331Ala)
NM_001999.4(FBN2):c.994G>A (p.Gly332Ser) rs2127000101
NM_001999.4(FBN2):c.995G>T (p.Gly332Val)

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.