NM_000138.5(FBN1):c.3464-5G>A
|
rs11853943
|
0.16287
|
NM_000138.5(FBN1):c.156G>T (p.Ala52=)
|
rs25398
|
0.06859
|
NM_000138.5(FBN1):c.5672-63G>T
|
rs363800
|
0.01987
|
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000138.5(FBN1):c.2678-15C>T
|
rs181681840
|
0.00324
|
NM_000138.5(FBN1):c.2055C>T (p.Cys685=)
|
rs140603
|
0.00304
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000138.5(FBN1):c.2420-8T>C
|
rs140582
|
0.00163
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)
|
rs138574576
|
0.00054
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)
|
rs1005074
|
0.00044
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=)
|
rs140178192
|
0.00025
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
NM_000138.5(FBN1):c.863-3C>T
|
rs955955089
|
0.00015
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.6054C>T (p.Val2018=)
|
rs542953863
|
0.00013
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000138.5(FBN1):c.2678-3C>T
|
rs747274959
|
0.00007
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
NM_000138.5(FBN1):c.2793G>T (p.Gly931=)
|
rs775785545
|
0.00006
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)
|
rs770860280
|
0.00005
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
NM_000138.5(FBN1):c.1242T>G (p.Pro414=)
|
rs371929738
|
0.00004
|
NM_000138.5(FBN1):c.2637C>T (p.Leu879=)
|
rs202163602
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser)
|
rs375939213
|
0.00004
|
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=)
|
rs371285755
|
0.00004
|
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)
|
rs758748297
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000138.5(FBN1):c.1158C>T (p.Asn386=)
|
rs368737502
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)
|
rs933962712
|
0.00003
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
NM_000138.5(FBN1):c.5671+7A>G
|
rs751170564
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)
|
rs747777955
|
0.00003
|
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser)
|
rs1397580172
|
0.00003
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)
|
rs370494288
|
0.00002
|
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=)
|
rs111756438
|
0.00002
|
NM_000138.5(FBN1):c.5463C>T (p.Asn1821=)
|
rs753966383
|
0.00002
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln)
|
rs1441536824
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.2253T>C (p.Asn751=)
|
rs1566912218
|
0.00001
|
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)
|
rs1064793112
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
NM_000138.5(FBN1):c.3830C>G (p.Thr1277Ser)
|
rs1372986456
|
0.00001
|
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)
|
rs536546914
|
0.00001
|
NM_000138.5(FBN1):c.4636G>T (p.Asp1546Tyr)
|
rs1386298731
|
0.00001
|
NM_000138.5(FBN1):c.473G>A (p.Gly158Glu)
|
rs2044515710
|
0.00001
|
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)
|
rs756227025
|
0.00001
|
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)
|
rs374520085
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.5502C>G (p.Asp1834Glu)
|
rs1566900494
|
0.00001
|
NM_000138.5(FBN1):c.5546-4A>C
|
rs919423974
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr)
|
rs363804
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.654C>G (p.Gly218=)
|
rs375181377
|
0.00001
|
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val)
|
rs776823384
|
0.00001
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
NM_000138.5(FBN1):c.7335G>T (p.Leu2445=)
|
rs754460527
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His)
|
rs748934203
|
0.00001
|
NM_000138.5(FBN1):c.8049A>G (p.Gln2683=)
|
rs1208510012
|
0.00001
|
NM_000138.5(FBN1):c.954T>A (p.Gly318=)
|
rs753055657
|
0.00001
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro)
|
rs779113310
|
|
NM_000138.5(FBN1):c.1169_1170del (p.Ser390fs)
|
rs2141331190
|
|
NM_000138.5(FBN1):c.1212A>C (p.Pro404=)
|
rs1566917021
|
|
NM_000138.5(FBN1):c.1360C>T (p.Gln454Ter)
|
rs1555400387
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1468+4C>G
|
rs765579667
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1476T>C (p.Asp492=)
|
rs758967612
|
|
NM_000138.5(FBN1):c.151G>A (p.Asp51Asn)
|
rs2140787467
|
|
NM_000138.5(FBN1):c.1530G>A (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg)
|
rs1555400279
|
|
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)
|
rs137854476
|
|
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly)
|
rs745422205
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.1721A>G (p.Asp574Gly)
|
rs1566914907
|
|
NM_000138.5(FBN1):c.176G>A (p.Cys59Tyr)
|
rs1555405673
|
|
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr)
|
rs2043732180
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1961-1G>A
|
rs2043686634
|
|
NM_000138.5(FBN1):c.1961-6_1961-5del
|
|
|
NM_000138.5(FBN1):c.1964C>G (p.Thr655Arg)
|
rs779915218
|
|
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln)
|
rs794728181
|
|
NM_000138.5(FBN1):c.2009G>C (p.Cys670Ser)
|
|
|
NM_000138.5(FBN1):c.2130C>G (p.Leu710=)
|
|
|
NM_000138.5(FBN1):c.213del (p.Gly70_Trp71insTer)
|
rs2140737436
|
|
NM_000138.5(FBN1):c.2209G>A (p.Gly737Arg)
|
rs1597570356
|
|
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)
|
rs794728188
|
|
NM_000138.5(FBN1):c.2245A>G (p.Ile749Val)
|
rs1555399370
|
|
NM_000138.5(FBN1):c.2327G>T (p.Cys776Phe)
|
|
|
NM_000138.5(FBN1):c.2353C>T (p.Pro785Ser)
|
rs2141305061
|
|
NM_000138.5(FBN1):c.2419+8A>G
|
|
|
NM_000138.5(FBN1):c.243T>A (p.Ile81=)
|
rs2044668695
|
|
NM_000138.5(FBN1):c.2447G>T (p.Cys816Phe)
|
rs397515770
|
|
NM_000138.5(FBN1):c.247+1G>A
|
rs25404
|
|
NM_000138.5(FBN1):c.247+5G>A
|
rs2044668542
|
|
NM_000138.5(FBN1):c.2488T>A (p.Cys830Ser)
|
rs397515773
|
|
NM_000138.5(FBN1):c.2539+1G>T
|
rs794728192
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)
|
rs2043594601
|
|
NM_000138.5(FBN1):c.2666dup (p.Cys890fs)
|
rs2043594458
|
|
NM_000138.5(FBN1):c.2729-9del
|
rs35314876
|
|
NM_000138.5(FBN1):c.2783A>T (p.Asn928Ile)
|
rs1566910929
|
|
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2887G>C (p.Glu963Gln)
|
rs745709588
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.2945G>T (p.Cys982Phe)
|
rs1057524458
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.3123C>T (p.His1041=)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3240C>T (p.Leu1080=)
|
|
|
NM_000138.5(FBN1):c.3274del (p.Asp1092fs)
|
rs397515788
|
|
NM_000138.5(FBN1):c.3290G>T (p.Cys1097Phe)
|
rs1555398627
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)
|
rs794728203
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.3449dup (p.Ser1151fs)
|
|
|
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)
|
rs886038877
|
|
NM_000138.5(FBN1):c.347-3_442+4del
|
rs2140717963
|
|
NM_000138.5(FBN1):c.3534T>A (p.Tyr1178Ter)
|
|
|
NM_000138.5(FBN1):c.3589+3A>G
|
rs2043513649
|
|
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro)
|
rs1555398382
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.374A>G (p.Asn125Ser)
|
rs2044551186
|
|
NM_000138.5(FBN1):c.380G>A (p.Gly127Asp)
|
rs1566935524
|
|
NM_000138.5(FBN1):c.3835G>A (p.Val1279Ile)
|
rs2141289564
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.3929G>T (p.Gly1310Val)
|
rs2043466303
|
|
NM_000138.5(FBN1):c.4027G>T (p.Ala1343Ser)
|
rs2043404775
|
|
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)
|
rs1566906506
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)
|
rs2043401571
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe)
|
rs1555397419
|
|
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4388A>T (p.Asn1463Ile)
|
rs1555397413
|
|
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr)
|
rs2043365537
|
|
NM_000138.5(FBN1):c.442+8C>T
|
rs771771077
|
|
NM_000138.5(FBN1):c.4459+3A>T
|
rs397515809
|
|
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp)
|
rs1555397203
|
|
NM_000138.5(FBN1):c.4562C>G (p.Pro1521Arg)
|
|
|
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)
|
rs397515812
|
|
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser)
|
rs995711019
|
|
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val)
|
rs2043337939
|
|
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)
|
rs794728228
|
|
NM_000138.5(FBN1):c.4700del (p.Gly1567fs)
|
rs1566904526
|
|
NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn)
|
rs193922208
|
|
NM_000138.5(FBN1):c.4708_4722delinsCA (p.Trp1570fs)
|
rs2141272280
|
|
NM_000138.5(FBN1):c.4780G>T (p.Gly1594Cys)
|
rs2043316188
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.4796del (p.Pro1599fs)
|
rs2141269941
|
|
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr)
|
rs1555404810
|
|
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)
|
rs869025408
|
|
NM_000138.5(FBN1):c.4849dup (p.Cys1617fs)
|
|
|
NM_000138.5(FBN1):c.4863_4865dup (p.Cys1622Ter)
|
rs2043314669
|
|
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
|
|
|
NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr)
|
rs1555396993
|
|
NM_000138.5(FBN1):c.4927dup (p.Thr1643fs)
|
rs1566903914
|
|
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.502T>C (p.Cys168Arg)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5297-8G>C
|
|
|
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5423-2A>G
|
rs1566900540
|
|
NM_000138.5(FBN1):c.5441del (p.Asn1814fs)
|
rs2043210418
|
|
NM_000138.5(FBN1):c.5465_5484del (p.Ala1822fs)
|
rs2141256009
|
|
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr)
|
rs1566900504
|
|
NM_000138.5(FBN1):c.5504_5505del (p.Asp1834_Cys1835insTer)
|
rs1566900492
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile)
|
rs1566900477
|
|
NM_000138.5(FBN1):c.5645C>T (p.Thr1882Ile)
|
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5789-1G>A
|
rs2043152080
|
|
NM_000138.5(FBN1):c.5840G>T (p.Cys1947Phe)
|
rs397515828
|
|
NM_000138.5(FBN1):c.5917+5_5917+29del
|
|
|
NM_000138.5(FBN1):c.5964del (p.Cys1989fs)
|
rs1566898120
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
NM_000138.5(FBN1):c.6079G>C (p.Gly2027Arg)
|
rs1566897404
|
|
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)
|
rs763091520
|
|
NM_000138.5(FBN1):c.6185A>T (p.Tyr2062Phe)
|
|
|
NM_000138.5(FBN1):c.6219del (p.Lys2074fs)
|
rs2141241529
|
|
NM_000138.5(FBN1):c.6248G>C (p.Cys2083Ser)
|
rs1566896378
|
|
NM_000138.5(FBN1):c.6313+3A>G
|
rs1555395256
|
|
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)
|
rs363815
|
|
NM_000138.5(FBN1):c.6350_6360del (p.Ile2117fs)
|
rs2141240851
|
|
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met)
|
rs876660976
|
|
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp)
|
rs1597525958
|
|
NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val)
|
rs2043050574
|
|
NM_000138.5(FBN1):c.6662G>T (p.Cys2221Phe)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6740-2del
|
rs1555394783
|
|
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)
|
rs2141232534
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
NM_000138.5(FBN1):c.7071C>G (p.Pro2357=)
|
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)
|
rs112550005
|
|
NM_000138.5(FBN1):c.7299C>G (p.Tyr2433Ter)
|
rs1566892872
|
|
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)
|
rs1597516347
|
|
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)
|
rs1555394397
|
|
NM_000138.5(FBN1):c.7425T>G (p.Ile2475Met)
|
|
|
NM_000138.5(FBN1):c.7453+3A>C
|
|
|
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)
|
rs1555394238
|
|
NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)
|
rs1566891701
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser)
|
rs1566891675
|
|
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg)
|
rs1566891668
|
|
NM_000138.5(FBN1):c.7676A>T (p.Asp2559Val)
|
rs1289740895
|
|
NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg)
|
rs2042934926
|
|
NM_000138.5(FBN1):c.7792C>T (p.Gln2598Ter)
|
rs886038975
|
|
NM_000138.5(FBN1):c.7805G>A (p.Trp2602Ter)
|
rs2141220626
|
|
NM_000138.5(FBN1):c.7820-1G>A
|
rs1597509836
|
|
NM_000138.5(FBN1):c.7917T>C (p.Tyr2639=)
|
rs1566889924
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.8079C>T (p.Gly2693=)
|
rs2042873692
|
|
NM_000138.5(FBN1):c.8107G>A (p.Gly2703Ser)
|
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)
|
rs1371152380
|
|
NM_000138.5(FBN1):c.8339T>A (p.Leu2780His)
|
|
|
NM_000138.5(FBN1):c.8374del (p.Arg2792fs)
|
|
|
NM_000138.5(FBN1):c.8402A>C (p.Asp2801Ala)
|
rs2042859370
|
|
NM_000138.5(FBN1):c.8510A>G (p.Tyr2837Cys)
|
rs2042857475
|
|
NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys)
|
rs1060501028
|
|
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn)
|
rs1597506544
|
|
NM_000138.5(FBN1):c.878del (p.Ser293fs)
|
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|
NM_000138.5(FBN1):c.950del (p.Pro317fs)
|
rs1566919637
|
|
NM_000138.5(FBN1):c.988+9A>C
|
rs1566919590
|
|