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)
|
|
|