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.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser)
|
rs148493036
|
0.00028
|
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.5602A>T (p.Ile1868Phe)
|
rs150931558
|
0.00015
|
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)
|
rs375666281
|
0.00014
|
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)
|
rs376194507
|
0.00014
|
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met)
|
rs202219940
|
0.00014
|
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)
|
rs545524318
|
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.6077C>T (p.Ser2026Phe)
|
rs139668142
|
0.00012
|
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)
|
rs141707850
|
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.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.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.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.1644T>G (p.Asp548Glu)
|
rs182651973
|
0.00006
|
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His)
|
rs1256710897
|
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.5800+5G>A
|
rs375487064
|
0.00006
|
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)
|
rs766271753
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)
|
rs760817242
|
0.00006
|
NM_001999.4(FBN2):c.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.1885A>G (p.Asn629Asp)
|
rs863223554
|
0.00005
|
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)
|
rs751600209
|
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.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.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.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.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.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.1526G>T (p.Arg509Leu)
|
rs199587570
|
0.00003
|
NM_001999.4(FBN2):c.195G>A (p.Glu65=)
|
rs750055830
|
0.00003
|
NM_001999.4(FBN2):c.338-7T>G
|
rs763168964
|
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.4495A>C (p.Asn1499His)
|
rs771260299
|
0.00003
|
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser)
|
rs1085307788
|
0.00003
|
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His)
|
rs189964478
|
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.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.8192+7C>T
|
rs376135657
|
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.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys)
|
rs576123258
|
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.1734G>C (p.Glu578Asp)
|
rs371046485
|
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.2219C>G (p.Pro740Arg)
|
rs1204171410
|
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.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.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.6329A>G (p.Asn2110Ser)
|
rs1016100479
|
0.00002
|
NM_001999.4(FBN2):c.672G>T (p.Met224Ile)
|
rs371292311
|
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.6994G>A (p.Asp2332Asn)
|
rs886059894
|
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.7511A>G (p.Tyr2504Cys)
|
rs764032053
|
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.-2C>A
|
rs776371080
|
0.00001
|
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly)
|
rs761066631
|
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.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.1502A>C (p.His501Pro)
|
rs773361111
|
0.00001
|
NM_001999.4(FBN2):c.1525C>T (p.Arg509Cys)
|
rs775037345
|
0.00001
|
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr)
|
rs1456682417
|
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.2013G>A (p.Gly671=)
|
rs778762668
|
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.220G>A (p.Val74Ile)
|
rs779812100
|
0.00001
|
NM_001999.4(FBN2):c.2222G>A (p.Cys741Tyr)
|
rs1751862882
|
0.00001
|
NM_001999.4(FBN2):c.2308A>C (p.Asn770His)
|
rs772662395
|
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.257C>G (p.Pro86Arg)
|
rs749819006
|
0.00001
|
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly)
|
rs863223558
|
0.00001
|
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val)
|
rs368766120
|
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.3515G>C (p.Gly1172Ala)
|
rs931046977
|
0.00001
|
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp)
|
rs771385579
|
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.3583C>T (p.Arg1195Cys)
|
rs757232992
|
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.3877A>T (p.Ile1293Phe)
|
rs1263059454
|
0.00001
|
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys)
|
rs922751471
|
0.00001
|
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys)
|
rs762514246
|
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.4052A>G (p.His1351Arg)
|
rs1039821634
|
0.00001
|
NM_001999.4(FBN2):c.419C>T (p.Thr140Ile)
|
rs779952945
|
0.00001
|
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly)
|
rs766483687
|
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.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.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.5063G>A (p.Arg1688His)
|
rs770803581
|
0.00001
|
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile)
|
rs572030603
|
0.00001
|
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu)
|
rs1402545685
|
0.00001
|
NM_001999.4(FBN2):c.5222A>G (p.Tyr1741Cys)
|
rs1437438964
|
0.00001
|
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)
|
rs760065931
|
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.5660A>G (p.Asn1887Ser)
|
rs745759959
|
0.00001
|
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys)
|
rs767932789
|
0.00001
|
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg)
|
rs376398925
|
0.00001
|
NM_001999.4(FBN2):c.5845A>G (p.Lys1949Glu)
|
rs1064796980
|
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.6093C>G (p.Thr2031=)
|
rs1131691293
|
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.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.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.6658G>A (p.Gly2220Ser)
|
rs863223582
|
0.00001
|
NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu)
|
rs747908706
|
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.6896C>T (p.Ala2299Val)
|
rs756798856
|
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.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.7345G>A (p.Asp2449Asn)
|
rs759198660
|
0.00001
|
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val)
|
rs373370945
|
0.00001
|
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val)
|
rs863223546
|
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.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.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.82G>T (p.Gly28Cys)
|
rs772841538
|
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.8458G>A (p.Glu2820Lys)
|
rs752384882
|
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
|
GRCh37/hg19 5q23.3(chr5:127728505-127787964)x1
|
|
|
NM_001999.4(FBN2):c.1015G>A (p.Gly339Arg)
|
rs1379355760
|
|
NM_001999.4(FBN2):c.1039C>T (p.Arg347Cys)
|
|
|
NM_001999.4(FBN2):c.1055C>T (p.Ser352Leu)
|
rs863223548
|
|
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter)
|
rs1752991946
|
|
NM_001999.4(FBN2):c.1079-8A>T
|
rs761013637
|
|
NM_001999.4(FBN2):c.1123T>C (p.Cys375Arg)
|
rs771054241
|
|
NM_001999.4(FBN2):c.1131del (p.Glu378fs)
|
|
|
NM_001999.4(FBN2):c.1201A>G (p.Ile401Val)
|
rs863223549
|
|
NM_001999.4(FBN2):c.1270G>A (p.Gly424Arg)
|
rs863223550
|
|
NM_001999.4(FBN2):c.1316G>A (p.Gly439Glu)
|
rs1554066016
|
|
NM_001999.4(FBN2):c.1328C>T (p.Ala443Val)
|
rs863223551
|
|
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.1423G>C (p.Gly475Arg)
|
rs200440156
|
|
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.1481C>A (p.Thr494Lys)
|
rs1752532671
|
|
NM_001999.4(FBN2):c.14G>C (p.Arg5Pro)
|
rs1194684025
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
NM_001999.4(FBN2):c.1607_1609del (p.Val536del)
|
rs863223594
|
|
NM_001999.4(FBN2):c.1723G>C (p.Asp575His)
|
|
|
NM_001999.4(FBN2):c.1724-2A>G
|
rs876661172
|
|
NM_001999.4(FBN2):c.1727T>C (p.Ile576Thr)
|
rs863223552
|
|
NM_001999.4(FBN2):c.1754T>C (p.Leu585Pro)
|
|
|
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg)
|
rs759733025
|
|
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.1784A>T (p.Asp595Val)
|
|
|
NM_001999.4(FBN2):c.1798T>C (p.Cys600Arg)
|
rs1752120226
|
|
NM_001999.4(FBN2):c.1826C>G (p.Thr609Ser)
|
rs2126958666
|
|
NM_001999.4(FBN2):c.1832A>C (p.Asp611Ala)
|
rs1752118700
|
|
NM_001999.4(FBN2):c.1899del (p.Asn634fs)
|
rs1581250307
|
|
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.1988A>C (p.Gln663Pro)
|
rs863223556
|
|
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.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.2165C>G (p.Ala722Gly)
|
rs1751864213
|
|
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn)
|
rs2126947449
|
|
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.2231del (p.Cys744fs)
|
|
|
NM_001999.4(FBN2):c.2248+9A>T
|
|
|
NM_001999.4(FBN2):c.2296G>A (p.Gly766Arg)
|
rs1393754058
|
|
NM_001999.4(FBN2):c.2361_2362insAA (p.Arg788fs)
|
rs1554063788
|
|
NM_001999.4(FBN2):c.2384G>C (p.Cys795Ser)
|
rs1057524398
|
|
NM_001999.4(FBN2):c.245T>G (p.Val82Gly)
|
|
|
NM_001999.4(FBN2):c.2479C>G (p.Arg827Gly)
|
rs574985859
|
|
NM_001999.4(FBN2):c.2489C>G (p.Pro830Arg)
|
rs547769591
|
|
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.255-3C>G
|
rs2112809259
|
|
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)
|
rs148598779
|
|
NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)
|
|
|
NM_001999.4(FBN2):c.2602A>G (p.Asn868Asp)
|
|
|
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>T (p.Leu900Phe)
|
rs1057524854
|
|
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.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.2779G>A (p.Ala927Thr)
|
rs863223559
|
|
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.2878G>A (p.Glu960Lys)
|
rs876661212
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
NM_001999.4(FBN2):c.2918A>G (p.Asn973Ser)
|
rs2126919826
|
|
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.313C>T (p.Pro105Ser)
|
rs1581379020
|
|
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.3281G>A (p.Gly1094Glu)
|
rs863223563
|
|
NM_001999.4(FBN2):c.3343+1996C>T
|
|
|
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.3456G>A (p.Met1152Ile)
|
rs863223565
|
|
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val)
|
rs876661190
|
|
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.3599-1G>A
|
|
|
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe)
|
rs2126898748
|
|
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.3680G>A (p.Cys1227Tyr)
|
rs1750830797
|
|
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.3722C>T (p.Thr1241Ile)
|
rs1171139646
|
|
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu)
|
rs767644891
|
|
NM_001999.4(FBN2):c.3811G>T (p.Gly1271Cys)
|
rs745509023
|
|
NM_001999.4(FBN2):c.3856G>C (p.Glu1286Gln)
|
rs2126896995
|
|
NM_001999.4(FBN2):c.3874G>T (p.Asp1292Tyr)
|
|
|
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.3985T>C (p.Cys1329Arg)
|
rs2126895513
|
|
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.4100A>T (p.Asp1367Val)
|
rs1323355934
|
|
NM_001999.4(FBN2):c.4121G>T (p.Gly1374Val)
|
rs2126892178
|
|
NM_001999.4(FBN2):c.4132T>C (p.Cys1378Arg)
|
rs863223606
|
|
NM_001999.4(FBN2):c.4134C>A (p.Cys1378Ter)
|
|
|
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>G (p.Asn1386Ser)
|
|
|
NM_001999.4(FBN2):c.4193G>T (p.Gly1398Val)
|
rs2126892048
|
|
NM_001999.4(FBN2):c.4195T>G (p.Trp1399Gly)
|
|
|
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val)
|
rs2126889179
|
|
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu)
|
rs863223607
|
|
NM_001999.4(FBN2):c.4316G>A (p.Gly1439Asp)
|
rs886039151
|
|
NM_001999.4(FBN2):c.4324G>T (p.Gly1442Cys)
|
|
|
NM_001999.4(FBN2):c.4325G>T (p.Gly1442Val)
|
rs1581220577
|
|
NM_001999.4(FBN2):c.4357T>C (p.Cys1453Arg)
|
rs2126886879
|
|
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.4408G>A (p.Gly1470Ser)
|
rs1750619785
|
|
NM_001999.4(FBN2):c.4411G>A (p.Ala1471Thr)
|
rs2126886739
|
|
NM_001999.4(FBN2):c.4472-18_4472-17delinsA
|
rs863223596
|
|
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.4516T>C (p.Cys1506Arg)
|
rs1750289332
|
|
NM_001999.4(FBN2):c.4540C>T (p.His1514Tyr)
|
rs863223608
|
|
NM_001999.4(FBN2):c.455G>A (p.Arg152Lys)
|
rs754613587
|
|
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg)
|
rs2126854542
|
|
NM_001999.4(FBN2):c.4589G>T (p.Cys1530Phe)
|
|
|
NM_001999.4(FBN2):c.4615C>G (p.Pro1539Ala)
|
rs761783629
|
|
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.4658G>A (p.Arg1553His)
|
|
|
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe)
|
rs535517270
|
|
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.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.4810T>C (p.Ser1604Pro)
|
rs2126847651
|
|
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.4858_4861del (p.Thr1620fs)
|
|
|
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
|
|
|
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.5030G>A (p.Cys1677Tyr)
|
rs2126846195
|
|
NM_001999.4(FBN2):c.5032C>G (p.Pro1678Ala)
|
|
|
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys)
|
rs769474473
|
|
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
|
|
|
NM_001999.4(FBN2):c.5124C>G (p.Cys1708Trp)
|
|
|
NM_001999.4(FBN2):c.5147C>G (p.Thr1716Ser)
|
rs2126843757
|
|
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.5275A>G (p.Lys1759Glu)
|
rs201113098
|
|
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile)
|
rs2126842957
|
|
NM_001999.4(FBN2):c.529C>T (p.Gln177Ter)
|
|
|
NM_001999.4(FBN2):c.5374_5376delinsTTTAAAGTG (p.Gly1792delinsPheLysVal)
|
|
|
NM_001999.4(FBN2):c.5427T>G (p.Ile1809Met)
|
rs756365546
|
|
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala)
|
rs1561760487
|
|
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.5534T>G (p.Leu1845Arg)
|
rs1749856162
|
|
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys)
|
rs1201284691
|
|
NM_001999.4(FBN2):c.5600G>A (p.Cys1867Tyr)
|
rs2126838836
|
|
NM_001999.4(FBN2):c.5614G>A (p.Gly1872Ser)
|
rs765693888
|
|
NM_001999.4(FBN2):c.5624G>A (p.Arg1875His)
|
rs766786574
|
|
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln)
|
rs767932789
|
|
NM_001999.4(FBN2):c.5759A>G (p.His1920Arg)
|
rs1554119710
|
|
NM_001999.4(FBN2):c.581A>C (p.Asn194Thr)
|
|
|
NM_001999.4(FBN2):c.5824C>G (p.Pro1942Ala)
|
rs761603109
|
|
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.58G>T (p.Val20Leu)
|
rs756126862
|
|
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.5984G>C (p.Gly1995Ala)
|
rs762268575
|
|
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser)
|
rs754066538
|
|
NM_001999.4(FBN2):c.6033del (p.Asn2013fs)
|
rs2126834363
|
|
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His)
|
rs1749711886
|
|
NM_001999.4(FBN2):c.6050C>T (p.Thr2017Ile)
|
|
|
NM_001999.4(FBN2):c.6152G>T (p.Ser2051Ile)
|
|
|
NM_001999.4(FBN2):c.6167A>G (p.Asp2056Gly)
|
|
|
NM_001999.4(FBN2):c.6173A>G (p.Asn2058Ser)
|
|
|
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.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.631T>G (p.Tyr211Asp)
|
rs1554071528
|
|
NM_001999.4(FBN2):c.6341C>G (p.Ser2114Cys)
|
rs1409787236
|
|
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu)
|
rs2126821327
|
|
NM_001999.4(FBN2):c.6414C>G (p.Asp2138Glu)
|
rs1449873424
|
|
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
|
|
|
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.6497A>G (p.His2166Arg)
|
rs1388581442
|
|
NM_001999.4(FBN2):c.6512-2A>G
|
rs863223580
|
|
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.6623G>C (p.Gly2208Ala)
|
rs200489152
|
|
NM_001999.4(FBN2):c.6645T>A (p.Asp2215Glu)
|
rs2126818736
|
|
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.6719A>G (p.Asn2240Ser)
|
rs863223612
|
|
NM_001999.4(FBN2):c.672G>A (p.Met224Ile)
|
rs371292311
|
|
NM_001999.4(FBN2):c.6757+1G>A
|
|
|
NM_001999.4(FBN2):c.6757+3A>G
|
rs1057523248
|
|
NM_001999.4(FBN2):c.6760A>T (p.Ile2254Phe)
|
|
|
NM_001999.4(FBN2):c.67G>A (p.Ala23Thr)
|
|
|
NM_001999.4(FBN2):c.6848A>G (p.Tyr2283Cys)
|
rs1749183860
|
|
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.6881-3T>C
|
|
|
NM_001999.4(FBN2):c.6894T>A (p.Cys2298Ter)
|
|
|
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.697G>A (p.Val233Ile)
|
|
|
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu)
|
rs370804151
|
|
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala)
|
rs764330020
|
|
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.7112C>G (p.Ser2371Ter)
|
rs1461140915
|
|
NM_001999.4(FBN2):c.7138G>C (p.Asp2380His)
|
rs886059893
|
|
NM_001999.4(FBN2):c.7184_7185delinsTC (p.Cys2395Phe)
|
|
|
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.7205G>T (p.Arg2402Leu)
|
rs148014419
|
|
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val)
|
rs2126809569
|
|
NM_001999.4(FBN2):c.7260C>G (p.His2420Gln)
|
rs775251012
|
|
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.7445C>T (p.Thr2482Ile)
|
rs2126808771
|
|
NM_001999.4(FBN2):c.7448A>T (p.Asp2483Val)
|
|
|
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro)
|
rs1056653104
|
|
NM_001999.4(FBN2):c.7546T>C (p.Ser2516Pro)
|
rs2126807303
|
|
NM_001999.4(FBN2):c.7559G>A (p.Gly2520Glu)
|
rs766586054
|
|
NM_001999.4(FBN2):c.7562A>G (p.Tyr2521Cys)
|
rs2126807281
|
|
NM_001999.4(FBN2):c.7594G>A (p.Asp2532Asn)
|
|
|
NM_001999.4(FBN2):c.7636C>G (p.Leu2546Val)
|
rs863223588
|
|
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly)
|
rs863223589
|
|
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala)
|
rs1447205905
|
|
NM_001999.4(FBN2):c.791G>C (p.Gly264Ala)
|
rs746046058
|
|
NM_001999.4(FBN2):c.7957G>A (p.Val2653Ile)
|
|
|
NM_001999.4(FBN2):c.7981C>T (p.Pro2661Ser)
|
rs2126795744
|
|
NM_001999.4(FBN2):c.8028C>A (p.Tyr2676Ter)
|
rs1388755471
|
|
NM_001999.4(FBN2):c.8041C>T (p.Pro2681Ser)
|
|
|
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu)
|
rs863223597
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8117G>T (p.Cys2706Phe)
|
rs1010740898
|
|
NM_001999.4(FBN2):c.811A>G (p.Thr271Ala)
|
rs201988564
|
|
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met)
|
rs754101758
|
|
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8143G>T (p.Gly2715Trp)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8144G>A (p.Gly2715Glu)
|
rs2126795483
|
|
NM_001999.4(FBN2):c.8279A>C (p.Glu2760Ala)
|
rs56023452
|
|
NM_001999.4(FBN2):c.832G>C (p.Asp278His)
|
rs2127056965
|
|
NM_001999.4(FBN2):c.8364+2T>C
|
rs2126793713
|
|
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His)
|
rs1161871936
|
|
NM_001999.4(FBN2):c.8482C>T (p.Leu2828Phe)
|
rs2126791897
|
|
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val)
|
rs1249852107
|
|
NM_001999.4(FBN2):c.8520C>G (p.Asn2840Lys)
|
rs139098335
|
|
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)
|
rs200345491
|
|
NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser)
|
rs886059891
|
|
NM_001999.4(FBN2):c.8648T>C (p.Leu2883Pro)
|
rs863223614
|
|
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.879C>G (p.Ile293Met)
|
rs1180679857
|
|
NM_001999.4(FBN2):c.893C>A (p.Ser298Tyr)
|
rs577855501
|
|
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr)
|
rs863223616
|
|
NM_001999.4(FBN2):c.920A>G (p.His307Arg)
|
rs1754067808
|
|