NM_000138.5(FBN1):c.2420-58del
|
rs149403312
|
0.01826
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000138.5(FBN1):c.1714+54del
|
rs193922184
|
0.00156
|
NM_000138.5(FBN1):c.*1252A>G
|
rs566419089
|
0.00150
|
NM_000138.5(FBN1):c.*2398G>T
|
rs377530465
|
0.00135
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.*2024A>G
|
rs558488257
|
0.00103
|
NM_000138.5(FBN1):c.*2091G>A
|
rs575922741
|
0.00073
|
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000138.5(FBN1):c.*1341C>T
|
rs766719764
|
0.00061
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000138.5(FBN1):c.6038-37G>A
|
rs202137580
|
0.00051
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000138.5(FBN1):c.*1720C>T
|
rs557301792
|
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.*1949T>C
|
rs534577080
|
0.00026
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
NM_000138.5(FBN1):c.*1706C>A
|
rs770825180
|
0.00024
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_000138.5(FBN1):c.*1432A>T
|
rs750902806
|
0.00022
|
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.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000138.5(FBN1):c.*2037T>C
|
rs544842106
|
0.00011
|
NM_000138.5(FBN1):c.*2556G>A
|
rs886051221
|
0.00011
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
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.*1981C>T
|
rs1054860347
|
0.00009
|
NM_000138.5(FBN1):c.*2044C>T
|
rs561911965
|
0.00009
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000138.5(FBN1):c.3337+11G>A
|
rs368726848
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000138.5(FBN1):c.5297-19A>G
|
rs375665466
|
0.00008
|
NM_000138.5(FBN1):c.6038-15_6038-14del
|
rs752198920
|
0.00008
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_000138.5(FBN1):c.*254C>T
|
rs886051243
|
0.00007
|
NM_000138.5(FBN1):c.2678-3C>T
|
rs747274959
|
0.00007
|
NM_000138.5(FBN1):c.*2592T>C
|
rs752936528
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
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.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000138.5(FBN1):c.*2221A>G
|
rs886051226
|
0.00004
|
NM_000138.5(FBN1):c.*300T>C
|
rs1011876253
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr)
|
rs774658482
|
0.00004
|
NM_000138.5(FBN1):c.*1375A>C
|
rs1049315076
|
0.00003
|
NM_000138.5(FBN1):c.*1619T>A
|
rs374297351
|
0.00003
|
NM_000138.5(FBN1):c.*1672G>A
|
rs886051231
|
0.00003
|
NM_000138.5(FBN1):c.*845C>T
|
rs1022238055
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys)
|
rs186805359
|
0.00003
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)
|
rs767884599
|
0.00003
|
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)
|
rs369482365
|
0.00003
|
NM_000138.5(FBN1):c.5671+7A>G
|
rs751170564
|
0.00003
|
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val)
|
rs746719632
|
0.00003
|
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)
|
rs778027769
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp)
|
rs772218768
|
0.00003
|
NM_000138.5(FBN1):c.*1249A>G
|
rs1456413075
|
0.00002
|
NM_000138.5(FBN1):c.*1398G>C
|
rs886051234
|
0.00002
|
NM_000138.5(FBN1):c.*253A>T
|
rs539383558
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln)
|
rs748905831
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu)
|
rs758600004
|
0.00002
|
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln)
|
rs780993677
|
0.00002
|
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)
|
rs745680336
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp)
|
rs765205164
|
0.00002
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
NM_000138.4(FBN1):c.-319G>T
|
rs886051256
|
0.00001
|
NM_000138.5(FBN1):c.*202_*203del
|
rs766125141
|
0.00001
|
NM_000138.5(FBN1):c.*252G>A
|
rs1407193739
|
0.00001
|
NM_000138.5(FBN1):c.*968G>A
|
rs999275120
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)
|
rs772574901
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>G
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg)
|
rs756111066
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn)
|
rs758366498
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr)
|
rs1373690375
|
0.00001
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)
|
rs762532435
|
0.00001
|
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)
|
rs374520085
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)
|
rs867058901
|
0.00001
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg)
|
rs748230405
|
0.00001
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
0.00001
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)
|
rs397515831
|
0.00001
|
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)
|
rs1478813051
|
0.00001
|
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)
|
rs762659907
|
0.00001
|
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)
|
rs756219617
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg)
|
rs781113082
|
0.00001
|
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met)
|
rs138558987
|
0.00001
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr)
|
rs746859988
|
0.00001
|
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser)
|
rs112566465
|
0.00001
|
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)
|
rs745650955
|
0.00001
|
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser)
|
rs1566889839
|
0.00001
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)
|
rs376933421
|
0.00001
|
NM_000138.5(FBN1):c.862+3A>G
|
rs1555401453
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)
|
rs371130701
|
0.00001
|
NM_000138.4(FBN1):c.-371T>C
|
rs886051257
|
|
NM_000138.4(FBN1):c.-389_-388TC[1]
|
rs886051258
|
|
NM_000138.4(FBN1):c.-400A>T
|
rs1890299170
|
|
NM_000138.4(FBN1):c.3232_3236delinsATCTC (p.Pro1078_Asp1079delinsIleSer)
|
rs1555398643
|
|
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)
|
rs1555393824
|
|
NM_000138.5(FBN1):c.*1007G>T
|
rs886051236
|
|
NM_000138.5(FBN1):c.*107A>G
|
rs562749473
|
|
NM_000138.5(FBN1):c.*1122C>T
|
rs2042846511
|
|
NM_000138.5(FBN1):c.*1201T>G
|
rs574181586
|
|
NM_000138.5(FBN1):c.*1396C>T
|
rs886051235
|
|
NM_000138.5(FBN1):c.*1477C>A
|
rs886051233
|
|
NM_000138.5(FBN1):c.*1635C>A
|
rs886051232
|
|
NM_000138.5(FBN1):c.*1733A>G
|
rs886051230
|
|
NM_000138.5(FBN1):c.*1943G>T
|
rs886051229
|
|
NM_000138.5(FBN1):c.*2078G>T
|
rs886051228
|
|
NM_000138.5(FBN1):c.*2114T>A
|
rs886051227
|
|
NM_000138.5(FBN1):c.*2260C>A
|
rs886051225
|
|
NM_000138.5(FBN1):c.*235T>C
|
rs1597506366
|
|
NM_000138.5(FBN1):c.*2421C>A
|
rs886051224
|
|
NM_000138.5(FBN1):c.*2443G>T
|
rs886051223
|
|
NM_000138.5(FBN1):c.*2533C>A
|
rs886051222
|
|
NM_000138.5(FBN1):c.*2578C>T
|
rs761025257
|
|
NM_000138.5(FBN1):c.*2594G>T
|
rs886051220
|
|
NM_000138.5(FBN1):c.*2638T>C
|
rs886051219
|
|
NM_000138.5(FBN1):c.*268G>C
|
rs886051242
|
|
NM_000138.5(FBN1):c.*286C>T
|
rs886051241
|
|
NM_000138.5(FBN1):c.*311G>A
|
rs894774727
|
|
NM_000138.5(FBN1):c.*325T>C
|
rs537909430
|
|
NM_000138.5(FBN1):c.*399C>A
|
rs2042852375
|
|
NM_000138.5(FBN1):c.*406G>T
|
rs886051240
|
|
NM_000138.5(FBN1):c.*724A>C
|
rs886051239
|
|
NM_000138.5(FBN1):c.*938G>T
|
rs886051238
|
|
NM_000138.5(FBN1):c.*948G>T
|
rs749224599
|
|
NM_000138.5(FBN1):c.*987C>T
|
rs886051237
|
|
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)
|
rs886051250
|
|
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.1328-9T>A
|
rs1209671382
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly)
|
rs794728171
|
|
NM_000138.5(FBN1):c.165-32del
|
rs193922180
|
|
NM_000138.5(FBN1):c.165-46CTT[2]
|
rs386134232
|
|
NM_000138.5(FBN1):c.1726T>A (p.Cys576Ser)
|
rs794728174
|
|
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser)
|
rs1555399962
|
|
NM_000138.5(FBN1):c.1805T>C (p.Phe602Ser)
|
rs1555399952
|
|
NM_000138.5(FBN1):c.1832G>A (p.Cys611Tyr)
|
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)
|
rs1303389437
|
|
NM_000138.5(FBN1):c.1928T>G (p.Leu643Arg)
|
rs1555399813
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del)
|
rs794728298
|
|
NM_000138.5(FBN1):c.206_208del (p.Pro69_Gly70delinsArg)
|
rs1555405660
|
|
NM_000138.5(FBN1):c.2091G>T (p.Gln697His)
|
rs1555399752
|
|
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
|
rs886051252
|
|
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2356G>A (p.Gly786Arg)
|
|
|
NM_000138.5(FBN1):c.2384G>T (p.Gly795Val)
|
rs1555399267
|
|
NM_000138.5(FBN1):c.2426A>G (p.Asp809Gly)
|
rs1555399211
|
|
NM_000138.5(FBN1):c.247+4del
|
|
|
NM_000138.5(FBN1):c.2477G>A (p.Gly826Asp)
|
rs1555399200
|
|
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
|
rs1381506466
|
|
NM_000138.5(FBN1):c.2559C>G (p.Cys853Trp)
|
rs111981744
|
|
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg)
|
rs2043596204
|
|
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu)
|
rs1060501083
|
|
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2678-6T>G
|
rs1555399102
|
|
NM_000138.5(FBN1):c.2723G>T (p.Cys908Phe)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
NM_000138.5(FBN1):c.2855-8T>C
|
rs193922195
|
|
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2876T>C (p.Phe959Ser)
|
|
|
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile)
|
rs781698952
|
|
NM_000138.5(FBN1):c.2929A>G (p.Met977Val)
|
rs776833421
|
|
NM_000138.5(FBN1):c.3002C>A (p.Thr1001Asn)
|
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3065G>A (p.Gly1022Glu)
|
rs1597565278
|
|
NM_000138.5(FBN1):c.3081A>T (p.Lys1027Asn)
|
rs1555398771
|
|
NM_000138.5(FBN1):c.3082+9T>G
|
rs746303949
|
|
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)
|
rs2141295239
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.3208+5G>A
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3209-7T>A
|
rs1459153455
|
|
NM_000138.5(FBN1):c.3212T>G (p.Ile1071Ser)
|
rs1555398647
|
|
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser)
|
rs1555398635
|
|
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.3370T>C (p.Cys1124Arg)
|
rs2141293730
|
|
NM_000138.5(FBN1):c.3382G>C (p.Val1128Leu)
|
rs1555398573
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)
|
rs1555398524
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)
|
rs1555398512
|
|
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly)
|
rs2043513994
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[7]
|
rs72158035
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[8]
|
rs72158035
|
|
NM_000138.5(FBN1):c.3589+3A>G
|
rs2043513649
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.372G>A (p.Met124Ile)
|
rs1555405050
|
|
NM_000138.5(FBN1):c.3748G>T (p.Asp1250Tyr)
|
rs1555398288
|
|
NM_000138.5(FBN1):c.3815C>A (p.Ser1272Tyr)
|
rs1555398270
|
|
NM_000138.5(FBN1):c.3838+3A>T
|
rs1555398265
|
|
NM_000138.5(FBN1):c.3964G>T (p.Asp1322Tyr)
|
|
|
NM_000138.5(FBN1):c.4009G>C (p.Ala1337Pro)
|
rs753648789
|
|
NM_000138.5(FBN1):c.4111A>G (p.Thr1371Ala)
|
|
|
NM_000138.5(FBN1):c.4125C>G (p.Ser1375Arg)
|
rs1555397666
|
|
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4183T>C (p.Tyr1395His)
|
rs1555397653
|
|
NM_000138.5(FBN1):c.4210+11G>A
|
rs148057138
|
|
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu)
|
rs1555405036
|
|
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp)
|
rs1555397423
|
|
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys)
|
rs1555397412
|
|
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys)
|
rs869025407
|
|
NM_000138.5(FBN1):c.443-15C>A
|
rs2044516377
|
|
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser)
|
rs1057518501
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys)
|
rs1060501076
|
|
NM_000138.5(FBN1):c.44T>G (p.Val15Gly)
|
rs2140787791
|
|
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser)
|
rs1555397209
|
|
NM_000138.5(FBN1):c.4543C>T (p.Pro1515Ser)
|
rs1219583611
|
|
NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)
|
|
|
NM_000138.5(FBN1):c.4582+5G>C
|
rs140633
|
|
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
|
|
|
NM_000138.5(FBN1):c.4747+5G>C
|
rs193922209
|
|
NM_000138.5(FBN1):c.4748-3T>G
|
rs770762644
|
|
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)
|
rs769588424
|
|
NM_000138.5(FBN1):c.4795C>A (p.Pro1599Thr)
|
rs1555397018
|
|
NM_000138.5(FBN1):c.4817-22_4817-14delinsAGCC
|
|
|
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)
|
rs886038897
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.4942G>C (p.Asp1648His)
|
rs397515816
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys)
|
rs387906625
|
|
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg)
|
rs886051248
|
|
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr)
|
rs2043210566
|
|
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val)
|
rs2043210544
|
|
NM_000138.5(FBN1):c.5545+12C>T
|
rs193922213
|
|
NM_000138.5(FBN1):c.5581A>C (p.Ser1861Arg)
|
rs2141252219
|
|
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)
|
rs1555395987
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5722A>C (p.Thr1908Pro)
|
rs1555395834
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser)
|
rs1555395830
|
|
NM_000138.5(FBN1):c.5741G>T (p.Cys1914Phe)
|
rs1555395827
|
|
NM_000138.5(FBN1):c.5743C>A (p.Arg1915Ser)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5788+36C>A
|
rs1555395814
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.5795A>C (p.Asp1932Ala)
|
rs1329934461
|
|
NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly)
|
rs869025409
|
|
NM_000138.5(FBN1):c.5834G>A (p.Gly1945Asp)
|
rs1555395760
|
|
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)
|
rs886051251
|
|
NM_000138.5(FBN1):c.5917+3A>C
|
rs202158568
|
|
NM_000138.5(FBN1):c.5917+5G>A
|
rs1555395743
|
|
NM_000138.5(FBN1):c.5917+5G>T
|
rs1555395743
|
|
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro)
|
rs1555395649
|
|
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val)
|
rs869025410
|
|
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn)
|
rs886051247
|
|
NM_000138.5(FBN1):c.6313+5G>C
|
rs878853688
|
|
NM_000138.5(FBN1):c.6320T>G (p.Phe2107Cys)
|
rs1555395230
|
|
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met)
|
rs876660976
|
|
NM_000138.5(FBN1):c.6357G>C (p.Val2119=)
|
rs886051246
|
|
NM_000138.5(FBN1):c.6379+5G>A
|
rs1085307875
|
|
NM_000138.5(FBN1):c.6380-83del
|
rs193922222
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)
|
rs1555395189
|
|
NM_000138.5(FBN1):c.6496+5G>C
|
rs1555395186
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6554T>G (p.Ile2185Ser)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp)
|
rs2043050683
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys)
|
rs2043050244
|
|
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6667A>C (p.Asn2223His)
|
rs1555394919
|
|
NM_000138.5(FBN1):c.6678_6680del (p.Ser2227del)
|
rs1555394913
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000138.5(FBN1):c.669G>A (p.Met223Ile)
|
rs910928261
|
|
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6778G>A (p.Glu2260Lys)
|
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)
|
rs1555401670
|
|
NM_000138.5(FBN1):c.7042T>C (p.Cys2348Arg)
|
rs1555394576
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
NM_000138.5(FBN1):c.7208T>A (p.Ile2403Asn)
|
rs1555394449
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7247G>T (p.Gly2416Val)
|
rs1555394442
|
|
NM_000138.5(FBN1):c.7258A>C (p.Asn2420His)
|
|
|
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr)
|
rs1555394434
|
|
NM_000138.5(FBN1):c.7384A>T (p.Thr2462Ser)
|
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln)
|
rs2042946233
|
|
NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr)
|
|
|
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala)
|
rs2042941498
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del)
|
rs1555394136
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
NM_000138.5(FBN1):c.7819+4A>G
|
rs794728278
|
|
NM_000138.5(FBN1):c.7820-3C>G
|
rs193922237
|
|
NM_000138.5(FBN1):c.7820A>G (p.Asp2607Gly)
|
|
|
NM_000138.5(FBN1):c.7830A>T (p.Glu2610Asp)
|
rs1597509823
|
|
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)
|
rs113935744
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7880G>T (p.Gly2627Val)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala)
|
rs1555393851
|
|
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg)
|
rs1060501030
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)
|
rs1057521100
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr)
|
rs747476726
|
|
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)
|
rs371375126
|
|
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)
|
rs1555393658
|
|
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)
|
rs1371152380
|
|
NM_000138.5(FBN1):c.8226+5G>T
|
rs193922243
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8312dup (p.Ser2772fs)
|
rs1555393560
|
|
NM_000138.5(FBN1):c.8330T>A (p.Ile2777Asn)
|
rs1555393556
|
|
NM_000138.5(FBN1):c.8330T>C (p.Ile2777Thr)
|
rs1555393556
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.8396del (p.Asn2799fs)
|
rs1555393540
|
|
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)
|
rs1555393538
|
|
NM_000138.5(FBN1):c.8428del (p.Glu2810fs)
|
rs1555393535
|
|
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)
|
rs1555393532
|
|
NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser)
|
rs748384979
|
|
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)
|
rs886038795
|
|
NM_000138.5(FBN1):c.8491A>T (p.Ile2831Phe)
|
rs1555393524
|
|
NM_000138.5(FBN1):c.8492T>G (p.Ile2831Ser)
|
rs1555393523
|
|
NM_000138.5(FBN1):c.8507T>A (p.Leu2836His)
|
rs2141209638
|
|
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)
|
rs1555393514
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
NM_000138.5(FBN1):c.8562del (p.Ser2855fs)
|
|
|
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)
|
rs368599541
|
|
NM_000138.5(FBN1):c.860A>G (p.Glu287Gly)
|
rs1555401454
|
|
NM_000138.5(FBN1):c.939C>G (p.Cys313Trp)
|
rs1555401007
|
|