ClinVar Miner

List of variants in gene FBN2 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 898
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HGVS dbSNP
NC_000005.10:g.(?_128300797)_(128303109_?)del
NC_000005.10:g.(?_128301372)_(128312805_?)dup
NC_000005.10:g.(?_128318139)_(128319011_?)dup
NC_000005.10:g.(?_128318149)_(128319001_?)del
NC_000005.10:g.(?_128328686)_(128330705_?)del
NC_000005.10:g.(?_128350858)_(128351015_?)del
NC_000005.10:g.(?_128408654)_(128530713_?)del
NC_000005.10:g.(?_128408664)_(128530703_?)del
NC_000005.10:g.(?_128530575)_(128530713_?)del
NC_000005.10:g.(?_128537340)_(128537613_?)del
NC_000005.9:g.(?_127622400)_(127645101_?)dup
NC_000005.9:g.(?_127653831)_(127654703_?)del
NC_000005.9:g.(?_127685029)_(127686707_?)del
NM_001999.4(FBN2):c.1011C>T (p.Thr337=) rs781086796
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.1053C>T (p.Thr351=) rs1554067080
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter)
NM_001999.4(FBN2):c.1070G>A (p.Arg357Gln)
NM_001999.4(FBN2):c.1078+5G>A
NM_001999.4(FBN2):c.1079-10A>G rs766920012
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp) rs762615993
NM_001999.4(FBN2):c.1093A>G (p.Met365Val)
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545
NM_001999.4(FBN2):c.1107C>T (p.Gly369=) rs1060503505
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083
NM_001999.4(FBN2):c.1119C>A (p.Gly373=) rs1554066145
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu) rs139189178
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met) rs371826887
NM_001999.4(FBN2):c.115C>A (p.Arg39=)
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914
NM_001999.4(FBN2):c.1209dup (p.Ala404fs)
NM_001999.4(FBN2):c.1232-6T>C rs1581260490
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys) rs576123258
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu) rs773011327
NM_001999.4(FBN2):c.1260A>C (p.Gly420=) rs766241911
NM_001999.4(FBN2):c.126G>A (p.Pro42=) rs771657289
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met)
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu) rs751545674
NM_001999.4(FBN2):c.132G>A (p.Pro44=)
NM_001999.4(FBN2):c.132G>C (p.Pro44=) rs199702573
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly) rs143515269
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser) rs1173562709
NM_001999.4(FBN2):c.1338C>G (p.Gly446=) rs1060504933
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser) rs1554066013
NM_001999.4(FBN2):c.135A>G (p.Gln45=)
NM_001999.4(FBN2):c.1365G>T (p.Gly455=) rs794726987
NM_001999.4(FBN2):c.1398C>T (p.Gly466=) rs1554066010
NM_001999.4(FBN2):c.1410C>T (p.Gly470=) rs750103822
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile) rs138046782
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala)
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu) rs376096770
NM_001999.4(FBN2):c.1422C>T (p.Ala474=) rs764073494
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050
NM_001999.4(FBN2):c.1434C>T (p.Ala478=) rs755786214
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327
NM_001999.4(FBN2):c.1443G>A (p.Gln481=) rs923812426
NM_001999.4(FBN2):c.1466-4G>A rs371636769
NM_001999.4(FBN2):c.1466-5C>T rs28763952
NM_001999.4(FBN2):c.147C>T (p.Ser49=) rs1194404343
NM_001999.4(FBN2):c.150T>C (p.Ala50=) rs543546489
NM_001999.4(FBN2):c.1526G>A (p.Arg509His)
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.1553G>A (p.Arg518Gln) rs748051713
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val) rs753734866
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503
NM_001999.4(FBN2):c.1603+6T>C
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys) rs1561427124
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe)
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys)
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr) rs1581251809
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg)
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg) rs1283833434
NM_001999.4(FBN2):c.1671T>C (p.Tyr557=)
NM_001999.4(FBN2):c.1686T>G (p.Ala562=) rs1581251758
NM_001999.4(FBN2):c.1716A>G (p.Ala572=) rs771782180
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg) rs376737293
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn) rs1230736233
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp) rs371046485
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser) rs1057523294
NM_001999.4(FBN2):c.1773C>T (p.Cys591=)
NM_001999.4(FBN2):c.1774G>T (p.Val592Leu)
NM_001999.4(FBN2):c.1776G>A (p.Val592=) rs775492838
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala) rs1554064868
NM_001999.4(FBN2):c.1804del (p.Cys602fs) rs886038824
NM_001999.4(FBN2):c.1812C>T (p.Ala604=) rs745811885
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val) rs1581250994
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe) rs1060503507
NM_001999.4(FBN2):c.1850-9C>T rs199937209
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr)
NM_001999.4(FBN2):c.1866A>G (p.Thr622=) rs1060504934
NM_001999.4(FBN2):c.1884G>A (p.Leu628=)
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg) rs1060503499
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser) rs748715881
NM_001999.4(FBN2):c.1902T>C (p.Asn634=) rs553052214
NM_001999.4(FBN2):c.1911C>G (p.Gly637=) rs537558351
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln) rs1561504900
NM_001999.4(FBN2):c.1954A>C (p.Asn652His)
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159
NM_001999.4(FBN2):c.1990A>G (p.Thr664Ala)
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668
NM_001999.4(FBN2):c.2034G>T (p.Gly678=) rs1357250229
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys)
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr)
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr) rs141291125
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu)
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser)
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.2083C>T (p.Arg695Cys)
NM_001999.4(FBN2):c.2084G>A (p.Arg695His) rs143722436
NM_001999.4(FBN2):c.208G>C (p.Val70Leu)
NM_001999.4(FBN2):c.2095+2_2095+7del
NM_001999.4(FBN2):c.2095+7_2095+20del rs1178750566
NM_001999.4(FBN2):c.209T>C (p.Val70Ala) rs144149249
NM_001999.4(FBN2):c.2103C>T (p.His701=)
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys)
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419
NM_001999.4(FBN2):c.2160C>T (p.Pro720=) rs889188442
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.217C>A (p.Arg73Ser) rs148493036
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg) rs745528502
NM_001999.4(FBN2):c.2202C>T (p.Asp734=)
NM_001999.4(FBN2):c.220G>A (p.Val74Ile)
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser) rs1554064242
NM_001999.4(FBN2):c.2248+4G>A rs752467521
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg)
NM_001999.4(FBN2):c.2271T>C (p.Ser757=) rs1338036259
NM_001999.4(FBN2):c.2283T>C (p.Gly761=) rs1235214641
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly) rs1485036763
NM_001999.4(FBN2):c.2303-2A>G
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu) rs889066564
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg)
NM_001999.4(FBN2):c.2340C>T (p.Ala780=) rs1060504935
NM_001999.4(FBN2):c.2358C>T (p.Asn786=) rs371981691
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile) rs756348656
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg) rs886038969
NM_001999.4(FBN2):c.2375G>A (p.Arg792His) rs374031658
NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr)
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.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2428+1G>T
NM_001999.4(FBN2):c.2428+6T>A rs77493726
NM_001999.4(FBN2):c.2428+9T>C
NM_001999.4(FBN2):c.2429-1G>A
NM_001999.4(FBN2):c.2439A>G (p.Glu813=) rs1581241374
NM_001999.4(FBN2):c.2457G>A (p.Leu819=)
NM_001999.4(FBN2):c.2469C>T (p.Asn823=) rs770997817
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582
NM_001999.4(FBN2):c.2487G>A (p.Thr829=) rs779455710
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala) rs878854474
NM_001999.4(FBN2):c.2555-6T>C rs376507178
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.2556T>C (p.Asp852=)
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp)
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg) rs749819006
NM_001999.4(FBN2):c.258C>T (p.Pro86=) rs780509984
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg)
NM_001999.4(FBN2):c.2620A>C (p.Asn874His) rs1297639505
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563
NM_001999.4(FBN2):c.2634G>A (p.Ser878=) rs143905167
NM_001999.4(FBN2):c.2634G>T (p.Ser878=) rs143905167
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg)
NM_001999.4(FBN2):c.2646A>G (p.Lys882=)
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999
NM_001999.4(FBN2):c.2661A>G (p.Gly887=)
NM_001999.4(FBN2):c.2674+10A>G rs371734006
NM_001999.4(FBN2):c.2674+9del
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg) rs143565958
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys) rs763094104
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys) rs1204772554
NM_001999.4(FBN2):c.2736T>C (p.Asn912=)
NM_001999.4(FBN2):c.2740G>A (p.Ala914Thr)
NM_001999.4(FBN2):c.2740G>T (p.Ala914Ser) rs370312107
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.2777C>A (p.Ala926Asp) rs138429045
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser) rs863223559
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507
NM_001999.4(FBN2):c.2802G>A (p.Arg934=) rs140500093
NM_001999.4(FBN2):c.2811A>G (p.Leu937=)
NM_001999.4(FBN2):c.2812+7G>A rs373320057
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val)
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg)
NM_001999.4(FBN2):c.2839A>C (p.Arg947=)
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg) rs766590294
NM_001999.4(FBN2):c.2856G>A (p.Thr952=) rs556038110
NM_001999.4(FBN2):c.2856G>T (p.Thr952=) rs556038110
NM_001999.4(FBN2):c.2863+3G>A rs762144935
NM_001999.4(FBN2):c.2874G>A (p.Glu958=) rs765859878
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)
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp) rs1554124089
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421
NM_001999.4(FBN2):c.2909G>A (p.Arg970His)
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg)
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp) rs142249689
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr) rs1057519321
NM_001999.4(FBN2):c.294C>T (p.Cys98=) rs765214316
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro)
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.2978G>A (p.Arg993His) rs774483323
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977
NM_001999.4(FBN2):c.2996G>A (p.Arg999His) rs1342942240
NM_001999.4(FBN2):c.2997C>T (p.Arg999=)
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg)
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp)
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met) rs1388119592
NM_001999.4(FBN2):c.3041A>C (p.His1014Pro)
NM_001999.4(FBN2):c.3045C>G (p.Pro1015=) rs371640952
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn)
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu)
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg)
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3087C>T (p.Val1029=) rs777392642
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln) rs773473369
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys) rs771853346
NM_001999.4(FBN2):c.3147G>A (p.Glu1049=) rs1356177204
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys) rs869025427
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His)
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs) rs1554123702
NM_001999.4(FBN2):c.3198T>G (p.Thr1066=)
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg)
NM_001999.4(FBN2):c.3203G>A (p.Arg1068Gln) rs563921589
NM_001999.4(FBN2):c.3217+8C>A rs1554123700
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)
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980
NM_001999.4(FBN2):c.3249G>T (p.Met1083Ile) rs146143173
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro) rs863223562
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg) rs1581230766
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=)
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg) rs758659538
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr) rs765437414
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val)
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly)
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531
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.3393C>T (p.Cys1131=) rs760695805
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu) rs772041342
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=) rs185809581
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=) rs756541654
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser)
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.4(FBN2):c.3432A>G (p.Glu1144=) rs757682009
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp)
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val) rs1042256829
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe) rs1206843725
NM_001999.4(FBN2):c.3472+1G>A rs1554123136
NM_001999.4(FBN2):c.3472+3A>G
NM_001999.4(FBN2):c.3472+9C>T
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg)
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His) rs1297011367
NM_001999.4(FBN2):c.3501C>G (p.Leu1167=)
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser) rs775844150
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser) rs138303817
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp) rs931046977
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met) rs375710546
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu) rs748888503
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr) rs779690646
NM_001999.4(FBN2):c.3570G>A (p.Glu1190=)
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe)
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992
NM_001999.4(FBN2):c.3595G>A (p.Val1199Met) rs146997253
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr)
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=)
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.362A>G (p.Asp121Gly) rs770483769
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met)
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter) rs863223569
NM_001999.4(FBN2):c.3675C>T (p.Cys1225=)
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr)
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala)
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=) rs774807410
NM_001999.4(FBN2):c.3693T>C (p.Tyr1231=) rs1561776923
NM_001999.4(FBN2):c.36C>T (p.Tyr12=) rs1581380471
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=) rs374833053
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu) rs142185964
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser) rs778784375
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3725-15A>G rs587776519
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr) rs1306804578
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr) rs149054177
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg)
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly)
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly)
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile) rs1554122848
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser)
NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe)
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=) rs192602314
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly) rs1561776564
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467
NM_001999.4(FBN2):c.3840G>A (p.Ser1280=) rs372613935
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys)
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser) rs747182286
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys)
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu)
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys) rs922751471
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe) rs763595235
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246
NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu)
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile) rs1554122803
NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala)
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly) rs1581223990
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430
NM_001999.4(FBN2):c.3984A>G (p.Glu1328=)
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp)
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)
NM_001999.4(FBN2):c.3993A>G (p.Leu1331=)
NM_001999.4(FBN2):c.4002T>C (p.Asn1334=) rs759408247
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val) rs776567929
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile) rs1231103337
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=)
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu) rs778566871
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg)
NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp) rs1479056828
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala) rs768722316
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943
NM_001999.4(FBN2):c.4100-9G>T rs377002313
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val)
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg)
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=) rs775405425
NM_001999.4(FBN2):c.413C>T (p.Ser138Leu)
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val)
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.4(FBN2):c.4208G>A (p.Gly1403Asp) rs750327890
NM_001999.4(FBN2):c.4222+10C>A rs376700480
NM_001999.4(FBN2):c.4222+1G>A rs1060503498
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn)
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn)
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile)
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn) rs751406554
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala) rs1060503506
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn)
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile)
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr) rs1060503511
NM_001999.4(FBN2):c.4287G>A (p.Pro1429=)
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=) rs147046215
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys)
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011
NM_001999.4(FBN2):c.42G>T (p.Leu14=) rs376407285
NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser)
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=)
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg) rs1060503510
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=) rs138665246
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile)
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994
NM_001999.4(FBN2):c.432A>G (p.Lys144=) rs201247200
NM_001999.4(FBN2):c.4346-2A>G
NM_001999.4(FBN2):c.4346-6G>T
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly)
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe)
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463
NM_001999.4(FBN2):c.4419C>T (p.Arg1473=)
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=)
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.4(FBN2):c.4472-2A>G rs1554121102
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile)
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala) rs1581212696
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=) rs751938197
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg)
NM_001999.4(FBN2):c.4545C>T (p.Cys1515=)
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=) rs144018137
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.4594G>A (p.Asp1532Asn) rs863223574
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile) rs1554121038
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.4(FBN2):c.4677A>G (p.Pro1559=) rs1581212135
NM_001999.4(FBN2):c.4680C>T (p.Pro1560=) rs377502943
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504
NM_001999.4(FBN2):c.4717+8A>G
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His) rs1060503508
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val) rs770269667
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356
NM_001999.4(FBN2):c.4767G>T (p.Gly1589=)
NM_001999.4(FBN2):c.4773G>A (p.Leu1591=) rs753387547
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=) rs780191346
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala) rs139830237
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser)
NM_001999.4(FBN2):c.4879+7A>G rs555328744
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro) rs1561765113
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=)
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val) rs765442038
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp) rs1554120359
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156
NM_001999.4(FBN2):c.4986G>A (p.Gln1662=) rs1554120357
NM_001999.4(FBN2):c.5004C>T (p.Asn1668=) rs140012679
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His) rs1554120349
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr) rs1554120340
NM_001999.4(FBN2):c.5074+5G>A
NM_001999.4(FBN2):c.5075-4C>G rs779999668
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=) rs1284156837
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser)
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe) rs1554120186
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp)
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter) rs1178371653
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234
NM_001999.4(FBN2):c.522T>C (p.Tyr174=)
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098
NM_001999.4(FBN2):c.5295A>C (p.Thr1765=) rs941916367
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876
NM_001999.4(FBN2):c.5307C>A (p.Gly1769=) rs755781072
NM_001999.4(FBN2):c.533-4G>T rs372596001
NM_001999.4(FBN2):c.533-6A>G rs56400997
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser) rs1554120093
NM_001999.4(FBN2):c.5346A>G (p.Pro1782=)
NM_001999.4(FBN2):c.5353+10C>A rs113589974
NM_001999.4(FBN2):c.5353+10C>T rs113589974
NM_001999.4(FBN2):c.5422+6T>G
NM_001999.4(FBN2):c.5423-8C>A
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866
NM_001999.4(FBN2):c.5427T>C (p.Ile1809=)
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly)
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198
NM_001999.4(FBN2):c.5472C>T (p.Cys1824=) rs1385121154
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg)
NM_001999.4(FBN2):c.5549-8T>A
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val)
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly)
NM_001999.4(FBN2):c.5567A>G (p.Asn1856Ser) rs780989245
NM_001999.4(FBN2):c.5574T>C (p.Asp1858=)
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln)
NM_001999.4(FBN2):c.5595A>T (p.Ala1865=)
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser)
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg) rs1060503504
NM_001999.4(FBN2):c.5637C>T (p.Ala1879=) rs367620361
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr)
NM_001999.4(FBN2):c.5639C>T (p.Ala1880Val) rs779567163
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser) rs745759959
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638
NM_001999.4(FBN2):c.5674+4A>G rs778011355
NM_001999.4(FBN2):c.5674+7A>G rs367877964
NM_001999.4(FBN2):c.5674+8A>G
NM_001999.4(FBN2):c.5675-8dup
NM_001999.4(FBN2):c.5675-9C>T rs27713
NM_001999.4(FBN2):c.5675-9del rs112666443
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428
NM_001999.4(FBN2):c.5682T>C (p.Asn1894=) rs991908659
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp) rs1010422106
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=) rs746592808
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg) rs1581202795
NM_001999.4(FBN2):c.5731C>T (p.Leu1911=) rs768733086
NM_001999.4(FBN2):c.573C>T (p.Ile191=) rs370698125
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg)
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=) rs746307443
NM_001999.4(FBN2):c.5800+10G>A
NM_001999.4(FBN2):c.5800+5G>A rs375487064
NM_001999.4(FBN2):c.5800+6A>T
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly) rs1554119542
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del) rs1554119538
NM_001999.4(FBN2):c.5805T>C (p.Val1935=)
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=)
NM_001999.4(FBN2):c.5853C>T (p.Thr1951=)
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile) rs763393398
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535
NM_001999.4(FBN2):c.5886G>C (p.Gly1962=)
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=)
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr) rs369652475
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg)
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu)
NM_001999.4(FBN2):c.5917+5G>A rs1561758622
NM_001999.4(FBN2):c.5917+9T>G rs371439173
NM_001999.4(FBN2):c.5918-10T>C rs547697385
NM_001999.4(FBN2):c.5918-4A>G rs1382347293
NM_001999.4(FBN2):c.5918-7C>G
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr) rs1060503501
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr)
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp) rs1561757902
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly)
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu)
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr) rs878854476
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393
NM_001999.4(FBN2):c.6027A>G (p.Pro2009=)
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His)
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu)
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val) rs1202188687
NM_001999.4(FBN2):c.6046+2T>C rs1581200259
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His)
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys) rs1554119321
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly)
NM_001999.4(FBN2):c.6057G>A (p.Glu2019=) rs752114619
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp)
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr)
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys)
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207
NM_001999.4(FBN2):c.6167-3C>A rs878854477
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe)
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala)
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser)
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe) rs878854478
NM_001999.4(FBN2):c.6270T>C (p.Ser2090=)
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933
NM_001999.4(FBN2):c.629-3C>G rs376491648
NM_001999.4(FBN2):c.629-9A>G rs56025995
NM_001999.4(FBN2):c.6292+7T>C
NM_001999.4(FBN2):c.6293-8T>A rs375682913
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys) rs1425263303
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu) rs141707850
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=) rs552637321
NM_001999.4(FBN2):c.6424C>T (p.Leu2142=)
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly)
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn)
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile) rs1394667470
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala) rs191065419
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly) rs191065419
NM_001999.4(FBN2):c.645G>A (p.Pro215=)
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly) rs763160605
NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys) rs1450302477
NM_001999.4(FBN2):c.6511+4C>T rs368610241
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_001999.4(FBN2):c.6511+7T>C
NM_001999.4(FBN2):c.6512-7A>G rs201462445
NM_001999.4(FBN2):c.6512-8T>A
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=) rs757216544
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser) rs1561750168
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn)
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=) rs374456115
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His) rs144887443
NM_001999.4(FBN2):c.6597A>G (p.Pro2199=)
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys)
NM_001999.4(FBN2):c.6610C>G (p.Leu2204Val)
NM_001999.4(FBN2):c.6611T>C (p.Leu2204Pro)
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu)
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His) rs745396297
NM_001999.4(FBN2):c.6637+8T>C rs780697390
NM_001999.4(FBN2):c.6638-9_6638-7del
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=) rs754724355
NM_001999.4(FBN2):c.6678T>C (p.Gly2226=)
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.672G>T (p.Met224Ile) rs371292311
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro) rs893243344
NM_001999.4(FBN2):c.681G>T (p.Gly227=) rs772923075
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala) rs1060503500
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met) rs2307109
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=) rs374853253
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met)
NM_001999.4(FBN2):c.685C>T (p.Leu229=) rs200698449
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile)
NM_001999.4(FBN2):c.6880+6G>C rs1271195305
NM_001999.4(FBN2):c.6881-8T>G
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val) rs756798856
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys) rs1419124277
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu)
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824
NM_001999.4(FBN2):c.6909C>T (p.His2303=)
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr)
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser) rs863223613
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile) rs780214155
NM_001999.4(FBN2):c.6972T>C (p.Pro2324=) rs1581188714
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.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.4(FBN2):c.6984C>T (p.Ala2328=) rs942158485
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln) rs370804151
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu) rs370804151
NM_001999.4(FBN2):c.6993C>T (p.Pro2331=)
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894
NM_001999.4(FBN2):c.69G>T (p.Ala23=) rs774856011
NM_001999.4(FBN2):c.6G>C (p.Gly2=) rs746567292
NM_001999.4(FBN2):c.7007G>A (p.Cys2336Tyr) rs760494751
NM_001999.4(FBN2):c.7011A>G (p.Val2337=)
NM_001999.4(FBN2):c.7012+6C>T rs749376421
NM_001999.4(FBN2):c.7012+7G>A rs199735209
NM_001999.4(FBN2):c.7012+7G>C
NM_001999.4(FBN2):c.7012+8G>A rs1422660066
NM_001999.4(FBN2):c.7013-5T>C rs28763927
NM_001999.4(FBN2):c.7013-7T>A rs191729449
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu)
NM_001999.4(FBN2):c.704C>T (p.Thr235Met)
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser) rs1581184433
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979
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.7137T>G (p.Leu2379=) rs765676702
NM_001999.4(FBN2):c.7138+10C>T rs1187342807
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly)
NM_001999.4(FBN2):c.7158C>T (p.Cys2386=)
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val)
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys)
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419
NM_001999.4(FBN2):c.7213G>A (p.Val2405Ile) rs753865904
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836
NM_001999.4(FBN2):c.7260C>T (p.His2420=)
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818
NM_001999.4(FBN2):c.7278A>G (p.Pro2426=)
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu) rs755134019
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=) rs1005611432
NM_001999.4(FBN2):c.7339G>A (p.Gly2447Arg) rs764998447
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428
NM_001999.4(FBN2):c.7345+3A>G rs776419198
NM_001999.4(FBN2):c.7345+9T>C rs1212635601
NM_001999.4(FBN2):c.7346-3C>T
NM_001999.4(FBN2):c.7346-8G>A
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457
NM_001999.4(FBN2):c.736G>A (p.Ala246Thr)
NM_001999.4(FBN2):c.7374C>T (p.Asn2458=) rs1383809012
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile)
NM_001999.4(FBN2):c.7389T>A (p.Gly2463=)
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val)
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546
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.7429A>G (p.Lys2477Glu)
NM_001999.4(FBN2):c.7464T>C (p.Ser2488=)
NM_001999.4(FBN2):c.7471+5C>T
NM_001999.4(FBN2):c.7471+6G>A rs200998513
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro) rs1056653104
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr) rs779483120
NM_001999.4(FBN2):c.7497G>A (p.Pro2499=) rs756747736
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp)
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053
NM_001999.4(FBN2):c.7524C>T (p.Asn2508=)
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=) rs1060503502
NM_001999.4(FBN2):c.7539T>C (p.Tyr2513=) rs1581181343
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=)
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val)
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln)
NM_001999.4(FBN2):c.7583A>G (p.Lys2528Arg) rs749623269
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923
NM_001999.4(FBN2):c.7595-8A>G rs878854479
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter)
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe)
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His)
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu) rs1473525001
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=) rs763586091
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val) rs775848753
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr)
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=) rs746265117
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val) rs572453085
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628
NM_001999.4(FBN2):c.7740G>A (p.Ser2580=) rs942206547
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe)
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg)
NM_001999.4(FBN2):c.7758A>C (p.Gly2586=)
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=)
NM_001999.4(FBN2):c.7773T>C (p.Thr2591=) rs1554116608
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly)
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala) rs774323549
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser) rs762538141
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922
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=)
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter) rs1554116411
NM_001999.4(FBN2):c.7878C>T (p.His2626=) rs587780943
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln) rs769593495
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala) rs1060503512
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758
NM_001999.4(FBN2):c.7961-10G>A rs752746367
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro)
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser)
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser)
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=) rs149502195
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126
NM_001999.4(FBN2):c.8049G>T (p.Gly2683=) rs138044126
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807
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.8085C>T (p.Asp2695=) rs765452930
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp)
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu)
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=) rs370851605
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser) rs1182788018
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val) rs1561736199
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu) rs746473847
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser)
NM_001999.4(FBN2):c.8192+6G>A rs752575354
NM_001999.4(FBN2):c.8192+7C>A
NM_001999.4(FBN2):c.8192+7C>T rs376135657
NM_001999.4(FBN2):c.8192+8G>A rs184132548
NM_001999.4(FBN2):c.8193-6A>G rs371741283
NM_001999.4(FBN2):c.8193-7C>G rs754837805
NM_001999.4(FBN2):c.81C>T (p.Ala27=) rs746484599
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu) rs149180427
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=)
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101
NM_001999.4(FBN2):c.8253C>T (p.Val2751=) rs140631421
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn) rs529742815
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala) rs1158966833
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=) rs190292877
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile)
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His) rs1262933234
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser) rs372206279
NM_001999.4(FBN2):c.8322C>T (p.Asp2774=) rs1554115402
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=)
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898
NM_001999.4(FBN2):c.834T>C (p.Asp278=)
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441
NM_001999.4(FBN2):c.8364+7A>G
NM_001999.4(FBN2):c.8364+7A>T rs185052980
NM_001999.4(FBN2):c.8364+8T>C rs1554115371
NM_001999.4(FBN2):c.8365-4C>G rs878854480
NM_001999.4(FBN2):c.8365-5T>C rs1237152538
NM_001999.4(FBN2):c.8365-7C>A
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169
NM_001999.4(FBN2):c.837A>G (p.Glu279=)
NM_001999.4(FBN2):c.8406C>T (p.Pro2802=)
NM_001999.4(FBN2):c.8413A>G (p.Met2805Val)
NM_001999.4(FBN2):c.8417A>T (p.Lys2806Met)
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe)
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr) rs186577030
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=) rs371397121
NM_001999.4(FBN2):c.8490C>T (p.Asn2830=) rs1581170322
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys) rs863223592
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter) rs1060503503
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)
NM_001999.4(FBN2):c.8543A>G (p.His2848Arg)
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=) rs137914321
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys)
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val) rs1554115164
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp) rs888064842
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn)
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val) rs863223615
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)
NM_001999.4(FBN2):c.8691G>A (p.Gly2897=) rs184109554
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro)
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) rs781069799
NM_001999.4(FBN2):c.8703G>A (p.Glu2901=)
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile) rs887275019
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505
NM_001999.4(FBN2):c.885A>G (p.Thr295=) rs989219711
NM_001999.4(FBN2):c.891C>A (p.Gly297=) rs539258943
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys) rs577855501
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser) rs1554069994
NM_001999.4(FBN2):c.93G>C (p.Gln31His) rs371491169
NM_001999.4(FBN2):c.93G>T (p.Gln31His) rs371491169
NM_001999.4(FBN2):c.951A>G (p.Glu317=)
NM_001999.4(FBN2):c.952+3G>T rs1554069982
NM_001999.4(FBN2):c.953-3T>A rs1020574940
NM_001999.4(FBN2):c.953-8T>G rs201818403
NM_001999.4(FBN2):c.953-9del rs757659311
NM_001999.4(FBN2):c.960T>C (p.Asp320=) rs1581270421
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn)
NM_001999.4(FBN2):c.969C>T (p.Ser323=) rs1554067083
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954

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