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_003242.6(TGFBR2):c.*742C>T
|
rs17026328
|
0.00125
|
NM_003242.6(TGFBR2):c.*2066G>A
|
rs566913021
|
0.00116
|
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_003242.6(TGFBR2):c.*443A>G
|
rs188599299
|
0.00065
|
NM_000138.5(FBN1):c.*1341C>T
|
rs766719764
|
0.00061
|
NM_001032283.3(TMPO):c.565+2368G>A
|
rs138295270
|
0.00058
|
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_001032283.3(TMPO):c.565+1848G>A
|
rs34301677
|
0.00037
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_003242.6(TGFBR2):c.-193G>A
|
rs886058301
|
0.00034
|
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.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_000138.5(FBN1):c.-136G>C
|
rs879283668
|
0.00027
|
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.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_003242.6(TGFBR2):c.*86A>G
|
rs540602629
|
0.00021
|
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_001032283.3(TMPO):c.565+1186T>A
|
rs146364154
|
0.00017
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
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.863-3C>T
|
rs955955089
|
0.00015
|
NM_003242.6(TGFBR2):c.*407A>G
|
rs917786105
|
0.00015
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
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.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
NM_001032283.3(TMPO):c.565+2182T>C
|
rs571417296
|
0.00013
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
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.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_001032283.3(TMPO):c.565+1641A>G
|
rs143232629
|
0.00011
|
NM_003242.5(TGFBR2):c.-371A>C
|
rs886058297
|
0.00010
|
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.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_001032283.3(TMPO):c.164C>T (p.Ala55Val)
|
rs756232510
|
0.00009
|
NM_001032283.3(TMPO):c.565+1531C>T
|
rs199943517
|
0.00009
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
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_001032283.3(TMPO):c.565+1617A>G
|
rs771185259
|
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.4582+3A>G
|
rs777845323
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_001032283.3(TMPO):c.565+2102C>G
|
rs764177808
|
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.2921G>A (p.Arg974His)
|
rs763094223
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
0.00006
|
NM_000138.5(FBN1):c.5573A>G (p.Asn1858Ser)
|
rs751472490
|
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.7099G>A (p.Gly2367Arg)
|
rs368978109
|
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.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
NM_001032283.3(TMPO):c.565+1213G>A
|
rs368211058
|
0.00006
|
NM_001032283.3(TMPO):c.565+1317C>T
|
rs376074187
|
0.00006
|
NM_001032283.3(TMPO):c.565+1328G>T
|
rs369208265
|
0.00006
|
NM_001032283.3(TMPO):c.565+2196A>G
|
rs369840957
|
0.00006
|
NM_001032283.3(TMPO):c.565+2361G>T
|
rs746160070
|
0.00006
|
NM_003242.5(TGFBR2):c.-307C>T
|
rs749340193
|
0.00006
|
NM_003242.6(TGFBR2):c.*1637G>A
|
rs1032978663
|
0.00006
|
NM_003242.6(TGFBR2):c.-337T>A
|
rs1038796042
|
0.00006
|
NM_000138.5(FBN1):c.-123C>A
|
rs1004900313
|
0.00005
|
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.4162C>T (p.Arg1388Cys)
|
rs770860280
|
0.00005
|
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)
|
rs755085498
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)
|
rs794727601
|
0.00005
|
NM_000138.5(FBN1):c.6728G>A (p.Arg2243Lys)
|
rs769589759
|
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.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
NM_001032283.3(TMPO):c.565+1107C>T
|
rs750751621
|
0.00005
|
NM_001032283.3(TMPO):c.565+1824C>G
|
rs373861992
|
0.00005
|
NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys)
|
rs369196744
|
0.00005
|
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)
|
rs771551560
|
0.00005
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
0.00004
|
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.1087G>A (p.Gly363Ser)
|
rs363855
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)
|
rs140503215
|
0.00004
|
NM_000138.5(FBN1):c.1951G>A (p.Val651Met)
|
rs1335043561
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg)
|
rs777826174
|
0.00004
|
NM_000138.5(FBN1):c.3837A>G (p.Val1279=)
|
rs59007872
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser)
|
rs375939213
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
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.8308C>T (p.His2770Tyr)
|
rs774658482
|
0.00004
|
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)
|
rs775206410
|
0.00004
|
NM_001032283.3(TMPO):c.128A>G (p.Gln43Arg)
|
rs371427406
|
0.00004
|
NM_001032283.3(TMPO):c.565+1310G>C
|
rs779961791
|
0.00004
|
NM_001032283.3(TMPO):c.565+1414G>A
|
rs1381728541
|
0.00004
|
NM_001032283.3(TMPO):c.565+1675A>G
|
rs370366685
|
0.00004
|
NM_001032283.3(TMPO):c.565+2188C>T
|
rs763238672
|
0.00004
|
NM_003242.6(TGFBR2):c.*1572A>G
|
rs878857301
|
0.00004
|
NM_003242.6(TGFBR2):c.*2340T>C
|
rs886058328
|
0.00004
|
NM_003242.6(TGFBR2):c.*352A>G
|
rs565524213
|
0.00004
|
NM_003242.6(TGFBR2):c.*988C>T
|
rs138036906
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)
|
rs146277116
|
0.00004
|
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala)
|
rs1050833
|
0.00004
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=)
|
rs878854612
|
0.00004
|
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)
|
rs200361387
|
0.00004
|
NM_003242.6(TGFBR2):c.95-3C>A
|
rs375330013
|
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.-98G>T
|
rs886051254
|
0.00003
|
NM_000138.5(FBN1):c.164+5A>G
|
rs397515760
|
0.00003
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys)
|
rs186805359
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)
|
rs539103389
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
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.5495G>A (p.Arg1832His)
|
rs764203302
|
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.6623A>G (p.Asn2208Ser)
|
rs146063839
|
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.7430A>G (p.Gln2477Arg)
|
rs747777955
|
0.00003
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
NM_000138.5(FBN1):c.7680G>T (p.Gln2560His)
|
rs780206348
|
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.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp)
|
rs772218768
|
0.00003
|
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)
|
rs767252151
|
0.00003
|
NM_001032283.3(TMPO):c.331G>C (p.Asp111His)
|
rs201838047
|
0.00003
|
NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly)
|
rs765922156
|
0.00003
|
NM_001032283.3(TMPO):c.565+1917A>G
|
rs727505217
|
0.00003
|
NM_001032283.3(TMPO):c.565+2104A>G
|
rs766567371
|
0.00003
|
NM_001032283.3(TMPO):c.565+2247C>T
|
rs369379490
|
0.00003
|
NM_001032283.3(TMPO):c.565+2253C>T
|
rs201929673
|
0.00003
|
NM_001032283.3(TMPO):c.565+2268A>T
|
rs759832690
|
0.00003
|
NM_001032283.3(TMPO):c.565+2301A>G
|
rs765153747
|
0.00003
|
NM_001032283.3(TMPO):c.565+2467T>A
|
rs767216575
|
0.00003
|
NM_003242.6(TGFBR2):c.*2425C>A
|
rs886058329
|
0.00003
|
NM_003242.6(TGFBR2):c.*328A>C
|
rs886058309
|
0.00003
|
NM_003242.6(TGFBR2):c.*989G>A
|
rs886058316
|
0.00003
|
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=)
|
rs141113059
|
0.00003
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
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.1370G>A (p.Arg457His)
|
rs141217134
|
0.00002
|
NM_000138.5(FBN1):c.1468+4C>T
|
rs765579667
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly)
|
rs752891726
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln)
|
rs794728328
|
0.00002
|
NM_000138.5(FBN1):c.2854+5A>G
|
rs762989672
|
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.2980G>A (p.Glu994Lys)
|
rs780301913
|
0.00002
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)
|
rs1183556572
|
0.00002
|
NM_000138.5(FBN1):c.3403A>G (p.Ser1135Gly)
|
rs749255004
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
NM_000138.5(FBN1):c.346+6T>G
|
rs371159129
|
0.00002
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.4336+4A>C
|
rs764099050
|
0.00002
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.4406G>A (p.Arg1469His)
|
rs397515808
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.4698G>A (p.Leu1566=)
|
rs143544916
|
0.00002
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
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.5899G>T (p.Asp1967Tyr)
|
rs776999627
|
0.00002
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000138.5(FBN1):c.601G>A (p.Gly201Arg)
|
rs748358548
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.619A>T (p.Thr207Ser)
|
rs1464303112
|
0.00002
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile)
|
rs780960909
|
0.00002
|
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp)
|
rs765205164
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)
|
rs369888822
|
0.00002
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val)
|
rs730880228
|
0.00002
|
NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu)
|
rs772509210
|
0.00002
|
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe)
|
rs375619307
|
0.00002
|
NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr)
|
rs147012167
|
0.00002
|
NM_001032283.3(TMPO):c.565+1078A>G
|
rs774074641
|
0.00002
|
NM_001032283.3(TMPO):c.565+1246T>C
|
rs144465114
|
0.00002
|
NM_001032283.3(TMPO):c.565+1449A>G
|
rs754951098
|
0.00002
|
NM_001032283.3(TMPO):c.565+1597T>C
|
rs1227785613
|
0.00002
|
NM_001032283.3(TMPO):c.565+1829dup
|
rs1877366767
|
0.00002
|
NM_001032283.3(TMPO):c.565+2095A>C
|
rs557983360
|
0.00002
|
NM_001032283.3(TMPO):c.565+2137A>G
|
rs886049913
|
0.00002
|
NM_001032283.3(TMPO):c.565+2248G>A
|
rs150445385
|
0.00002
|
NM_001032283.3(TMPO):c.70A>C (p.Asn24His)
|
rs727505279
|
0.00002
|
NM_001032283.3(TMPO):c.85G>A (p.Ala29Thr)
|
rs1174108011
|
0.00002
|
NM_003242.6(TGFBR2):c.*579T>C
|
rs1259191128
|
0.00002
|
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr)
|
rs104893813
|
0.00002
|
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu)
|
rs767120937
|
0.00002
|
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)
|
rs869025374
|
0.00001
|
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.1030C>T (p.Arg344Cys)
|
rs752010116
|
0.00001
|
NM_000138.5(FBN1):c.1031G>A (p.Arg344His)
|
rs200388305
|
0.00001
|
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)
|
rs762598979
|
0.00001
|
NM_000138.5(FBN1):c.1146C>T (p.Thr382=)
|
rs889875676
|
0.00001
|
NM_000138.5(FBN1):c.1150G>A (p.Asp384Asn)
|
rs1405173549
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1174C>G (p.Pro392Ala)
|
rs749467972
|
0.00001
|
NM_000138.5(FBN1):c.1177A>G (p.Met393Val)
|
rs983129867
|
0.00001
|
NM_000138.5(FBN1):c.1216C>G (p.Leu406Val)
|
rs1257581073
|
0.00001
|
NM_000138.5(FBN1):c.1417C>T (p.Arg473Trp)
|
rs767068276
|
0.00001
|
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile)
|
rs373751659
|
0.00001
|
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu)
|
rs776942896
|
0.00001
|
NM_000138.5(FBN1):c.1560G>C (p.Gln520His)
|
rs143253318
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1604T>C (p.Leu535Ser)
|
rs754364317
|
0.00001
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
NM_000138.5(FBN1):c.164+6G>A
|
rs760968439
|
0.00001
|
NM_000138.5(FBN1):c.1640T>C (p.Ile547Thr)
|
rs112269822
|
0.00001
|
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val)
|
rs141551765
|
0.00001
|
NM_000138.5(FBN1):c.1686T>G (p.His562Gln)
|
rs1220088131
|
0.00001
|
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)
|
rs772574901
|
0.00001
|
NM_000138.5(FBN1):c.1826G>A (p.Arg609His)
|
rs770393471
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys)
|
rs1335136151
|
0.00001
|
NM_000138.5(FBN1):c.1914A>C (p.Glu638Asp)
|
rs794728180
|
0.00001
|
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp)
|
rs1238689648
|
0.00001
|
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser)
|
rs766346620
|
0.00001
|
NM_000138.5(FBN1):c.2098C>T (p.Pro700Ser)
|
rs745694291
|
0.00001
|
NM_000138.5(FBN1):c.2106G>T (p.Gln702His)
|
rs778835898
|
0.00001
|
NM_000138.5(FBN1):c.2115G>A (p.Ala705=)
|
rs932764622
|
0.00001
|
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly)
|
rs794728184
|
0.00001
|
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met)
|
rs777526851
|
0.00001
|
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn)
|
rs199625633
|
0.00001
|
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys)
|
rs1450795956
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>G
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)
|
rs965020667
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2684T>C (p.Ile895Thr)
|
rs1488064078
|
0.00001
|
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg)
|
rs756111066
|
0.00001
|
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser)
|
rs1220842179
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser)
|
rs372203315
|
0.00001
|
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu)
|
rs922684362
|
0.00001
|
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr)
|
rs1177856657
|
0.00001
|
NM_000138.5(FBN1):c.2877C>A (p.Phe959Leu)
|
rs1411365281
|
0.00001
|
NM_000138.5(FBN1):c.2902A>T (p.Thr968Ser)
|
rs752117227
|
0.00001
|
NM_000138.5(FBN1):c.2909C>T (p.Pro970Leu)
|
rs751985082
|
0.00001
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.2935G>A (p.Ala979Thr)
|
rs748915171
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.297G>A (p.Met99Ile)
|
rs1314594090
|
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.3209-3C>A
|
rs397515787
|
0.00001
|
NM_000138.5(FBN1):c.3211A>G (p.Ile1071Val)
|
rs990134651
|
0.00001
|
NM_000138.5(FBN1):c.3214G>A (p.Asp1072Asn)
|
rs778867355
|
0.00001
|
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser)
|
rs1437464599
|
0.00001
|
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg)
|
rs372404949
|
0.00001
|
NM_000138.5(FBN1):c.3405T>A (p.Ser1135Arg)
|
rs777727844
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3464-3C>T
|
rs770992241
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3563C>T (p.Ser1188Leu)
|
rs1057520181
|
0.00001
|
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val)
|
rs370572503
|
0.00001
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
NM_000138.5(FBN1):c.365G>A (p.Arg122His)
|
rs1010750845
|
0.00001
|
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr)
|
rs774003646
|
0.00001
|
NM_000138.5(FBN1):c.370A>G (p.Met124Val)
|
rs764224168
|
0.00001
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.3811G>A (p.Ala1271Thr)
|
rs993279983
|
0.00001
|
NM_000138.5(FBN1):c.392A>G (p.Asp131Gly)
|
rs1655998227
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg)
|
rs886038781
|
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.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4087+6T>A
|
rs746201265
|
0.00001
|
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser)
|
rs768531262
|
0.00001
|
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys)
|
rs1258352189
|
0.00001
|
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His)
|
rs778219976
|
0.00001
|
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)
|
rs778145681
|
0.00001
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
NM_000138.5(FBN1):c.4312A>G (p.Ser1438Gly)
|
rs1309215883
|
0.00001
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)
|
rs560230585
|
0.00001
|
NM_000138.5(FBN1):c.4336+11G>A
|
rs886051249
|
0.00001
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)
|
rs762532435
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln)
|
rs1180715983
|
0.00001
|
NM_000138.5(FBN1):c.4541C>T (p.Pro1514Leu)
|
rs746205136
|
0.00001
|
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln)
|
rs201546777
|
0.00001
|
NM_000138.5(FBN1):c.4581T>C (p.Val1527=)
|
rs2043340510
|
0.00001
|
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn)
|
rs794728227
|
0.00001
|
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser)
|
rs1254024310
|
0.00001
|
NM_000138.5(FBN1):c.4622G>A (p.Arg1541Gln)
|
rs753491504
|
0.00001
|
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu)
|
rs1286993730
|
0.00001
|
NM_000138.5(FBN1):c.4747T>G (p.Ser1583Ala)
|
rs959567666
|
0.00001
|
NM_000138.5(FBN1):c.4772G>A (p.Gly1591Glu)
|
rs772818208
|
0.00001
|
NM_000138.5(FBN1):c.4802C>A (p.Thr1601Asn)
|
rs1363357978
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys)
|
rs544990350
|
0.00001
|
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser)
|
rs767451077
|
0.00001
|
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)
|
rs374520085
|
0.00001
|
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln)
|
rs768366890
|
0.00001
|
NM_000138.5(FBN1):c.4943-3T>C
|
rs367594261
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.509A>G (p.Tyr170Cys)
|
rs1228647846
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5147A>T (p.Lys1716Met)
|
rs2043292832
|
0.00001
|
NM_000138.5(FBN1):c.5293G>A (p.Val1765Ile)
|
rs2043270857
|
0.00001
|
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)
|
rs867058901
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe)
|
rs1232797551
|
0.00001
|
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met)
|
rs757901214
|
0.00001
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr)
|
rs777539060
|
0.00001
|
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys)
|
rs750720912
|
0.00001
|
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His)
|
rs779174265
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
NM_000138.5(FBN1):c.5630A>G (p.His1877Arg)
|
rs746473206
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
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.5776_5778del (p.Asn1926del)
|
rs886038964
|
0.00001
|
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp)
|
rs956702513
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu)
|
rs895824095
|
0.00001
|
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn)
|
rs377671719
|
0.00001
|
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly)
|
rs1057036462
|
0.00001
|
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser)
|
rs921321822
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn)
|
rs768457461
|
0.00001
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6196G>A (p.Glu2066Lys)
|
rs1219570062
|
0.00001
|
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)
|
rs1052480459
|
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.6403G>A (p.Asp2135Asn)
|
rs746167150
|
0.00001
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
NM_000138.5(FBN1):c.644G>A (p.Arg215Gln)
|
rs753703844
|
0.00001
|
NM_000138.5(FBN1):c.6454G>A (p.Glu2152Lys)
|
rs777877864
|
0.00001
|
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)
|
rs756219617
|
0.00001
|
NM_000138.5(FBN1):c.6496+3G>A
|
rs750222196
|
0.00001
|
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro)
|
rs373510719
|
0.00001
|
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)
|
rs760055383
|
0.00001
|
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp)
|
rs2043050989
|
0.00001
|
NM_000138.5(FBN1):c.6595G>A (p.Gly2199Ser)
|
rs770132403
|
0.00001
|
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val)
|
rs776823384
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His)
|
rs773084230
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6745G>A (p.Asp2249Asn)
|
rs746666535
|
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.687C>G (p.His229Gln)
|
rs1391600366
|
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.6997+15C>T
|
rs1453967282
|
0.00001
|
NM_000138.5(FBN1):c.6997+3G>A
|
rs1270425478
|
0.00001
|
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly)
|
rs886042199
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
NM_000138.5(FBN1):c.7228C>T (p.His2410Tyr)
|
rs548057493
|
0.00001
|
NM_000138.5(FBN1):c.722C>T (p.Thr241Met)
|
rs747049980
|
0.00001
|
NM_000138.5(FBN1):c.7330+5G>A
|
rs1330909386
|
0.00001
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
NM_000138.5(FBN1):c.7361C>T (p.Pro2454Leu)
|
rs1555394410
|
0.00001
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
NM_000138.5(FBN1):c.7567A>C (p.Ile2523Leu)
|
rs199524640
|
0.00001
|
NM_000138.5(FBN1):c.757A>G (p.Ile253Val)
|
rs1422959121
|
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.7949A>G (p.Asn2650Ser)
|
rs756819682
|
0.00001
|
NM_000138.5(FBN1):c.796G>A (p.Val266Ile)
|
rs201669595
|
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.8051+5G>A
|
rs767384075
|
0.00001
|
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln)
|
rs762276905
|
0.00001
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp)
|
rs397515860
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.8257C>G (p.Leu2753Val)
|
rs1253681259
|
0.00001
|
NM_000138.5(FBN1):c.8261C>T (p.Ala2754Val)
|
rs1372306620
|
0.00001
|
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg)
|
rs1220647446
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.5(FBN1):c.8331C>G (p.Ile2777Met)
|
rs1427984176
|
0.00001
|
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met)
|
rs1480715909
|
0.00001
|
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)
|
rs376933421
|
0.00001
|
NM_000138.5(FBN1):c.8509T>C (p.Tyr2837His)
|
rs1306203757
|
0.00001
|
NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe)
|
rs755903722
|
0.00001
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.5(FBN1):c.8606T>C (p.Leu2869Ser)
|
rs363848
|
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_000138.5(FBN1):c.987A>G (p.Ile329Met)
|
rs1289726476
|
0.00001
|
NM_000138.5(FBN1):c.995G>A (p.Arg332His)
|
rs748929044
|
0.00001
|
NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe)
|
rs1490105931
|
0.00001
|
NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser)
|
rs767796798
|
0.00001
|
NM_001032283.3(TMPO):c.176G>C (p.Ser59Thr)
|
rs987636941
|
0.00001
|
NM_001032283.3(TMPO):c.263G>A (p.Arg88Gln)
|
rs774853700
|
0.00001
|
NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu)
|
rs778356103
|
0.00001
|
NM_001032283.3(TMPO):c.296C>G (p.Thr99Ser)
|
rs529351559
|
0.00001
|
NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg)
|
rs200943582
|
0.00001
|
NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg)
|
rs1001615865
|
0.00001
|
NM_001032283.3(TMPO):c.476C>T (p.Ser159Phe)
|
rs183244086
|
0.00001
|
NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly)
|
rs1430201856
|
0.00001
|
NM_001032283.3(TMPO):c.565+1053A>G
|
rs769778970
|
0.00001
|
NM_001032283.3(TMPO):c.565+1084T>A
|
rs767247716
|
0.00001
|
NM_001032283.3(TMPO):c.565+1104A>C
|
rs764732034
|
0.00001
|
NM_001032283.3(TMPO):c.565+1128G>A
|
rs770791830
|
0.00001
|
NM_001032283.3(TMPO):c.565+1137G>A
|
rs375903462
|
0.00001
|
NM_001032283.3(TMPO):c.565+1155A>G
|
rs1235766643
|
0.00001
|
NM_001032283.3(TMPO):c.565+1165G>C
|
rs191275106
|
0.00001
|
NM_001032283.3(TMPO):c.565+1183C>T
|
rs762263378
|
0.00001
|
NM_001032283.3(TMPO):c.565+1275A>G
|
rs763320036
|
0.00001
|
NM_001032283.3(TMPO):c.565+1282T>C
|
rs886049912
|
0.00001
|
NM_001032283.3(TMPO):c.565+1297C>T
|
rs560525921
|
0.00001
|
NM_001032283.3(TMPO):c.565+1305T>G
|
rs201730568
|
0.00001
|
NM_001032283.3(TMPO):c.565+1318A>G
|
rs754640974
|
0.00001
|
NM_001032283.3(TMPO):c.565+1327T>C
|
rs1325196944
|
0.00001
|
NM_001032283.3(TMPO):c.565+1384A>G
|
rs766401550
|
0.00001
|
NM_001032283.3(TMPO):c.565+1390A>G
|
rs780719278
|
0.00001
|
NM_001032283.3(TMPO):c.565+1471C>T
|
rs779303657
|
0.00001
|
NM_001032283.3(TMPO):c.565+1485A>G
|
rs730880229
|
0.00001
|
NM_001032283.3(TMPO):c.565+1567C>T
|
rs202166461
|
0.00001
|
NM_001032283.3(TMPO):c.565+1576T>C
|
rs747232440
|
0.00001
|
NM_001032283.3(TMPO):c.565+1623C>G
|
rs902009254
|
0.00001
|
NM_001032283.3(TMPO):c.565+1626C>G
|
rs1555203864
|
0.00001
|
NM_001032283.3(TMPO):c.565+1648A>G
|
rs1057524856
|
0.00001
|
NM_001032283.3(TMPO):c.565+1654T>C
|
rs753527126
|
0.00001
|
NM_001032283.3(TMPO):c.565+1662T>G
|
rs200367787
|
0.00001
|
NM_001032283.3(TMPO):c.565+1805A>C
|
rs767027388
|
0.00001
|
NM_001032283.3(TMPO):c.565+1809G>A
|
rs1450805694
|
0.00001
|
NM_001032283.3(TMPO):c.565+1911A>G
|
rs754188509
|
0.00001
|
NM_001032283.3(TMPO):c.565+1949C>G
|
rs750502531
|
0.00001
|
NM_001032283.3(TMPO):c.565+1968G>A
|
rs1051007448
|
0.00001
|
NM_001032283.3(TMPO):c.565+2079C>T
|
rs144269053
|
0.00001
|
NM_001032283.3(TMPO):c.565+2092C>A
|
rs563175204
|
0.00001
|
NM_001032283.3(TMPO):c.565+2236C>G
|
rs746645331
|
0.00001
|
NM_001032283.3(TMPO):c.565+2260C>T
|
rs367769644
|
0.00001
|
NM_001032283.3(TMPO):c.565+2331A>G
|
rs1319585944
|
0.00001
|
NM_001032283.3(TMPO):c.565+2347T>C
|
rs1450811229
|
0.00001
|
NM_001032283.3(TMPO):c.565+2367C>T
|
rs772424658
|
0.00001
|
NM_001032283.3(TMPO):c.565+2409T>G
|
rs759247844
|
0.00001
|
NM_001032283.3(TMPO):c.565+2431C>G
|
rs1435432542
|
0.00001
|
NM_001032283.3(TMPO):c.565+2488G>A
|
rs779219922
|
0.00001
|
NM_001032283.3(TMPO):c.565+999C>T
|
rs138259721
|
0.00001
|
NM_003242.6(TGFBR2):c.*1201C>T
|
rs886058318
|
0.00001
|
NM_003242.6(TGFBR2):c.*1465T>C
|
rs1171877784
|
0.00001
|
NM_003242.6(TGFBR2):c.*1887G>A
|
rs886058324
|
0.00001
|
NM_003242.6(TGFBR2):c.*1998G>A
|
rs886058325
|
0.00001
|
NM_003242.6(TGFBR2):c.*820G>A
|
rs1259248325
|
0.00001
|
NM_003242.6(TGFBR2):c.-117G>A
|
rs886058302
|
0.00001
|
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)
|
rs137908708
|
0.00001
|
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)
|
rs886038960
|
0.00001
|
NM_003242.6(TGFBR2):c.1525-10C>G
|
rs747069454
|
0.00001
|
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser)
|
rs370708687
|
0.00001
|
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met)
|
rs149847376
|
0.00001
|
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)
|
rs755070814
|
0.00001
|
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)
|
rs748418894
|
0.00001
|
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser)
|
rs768103695
|
0.00001
|
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
|
rs863223838
|
0.00001
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)
|
rs886058304
|
0.00001
|
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)
|
rs764160271
|
0.00001
|
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu)
|
rs139078984
|
0.00001
|
NM_003242.6(TGFBR2):c.94+16293C>A
|
rs138262219
|
0.00001
|
NM_003242.6(TGFBR2):c.95-3679C>A
|
rs1312697004
|
0.00001
|
GRCh37/hg19 3p24.1(chr3:30729876-30730003)
|
|
|
NC_000012.11:g.(?_98909636)_(98909934_?)del
|
|
|
NC_000012.11:g.(?_98909646)_(98909944_?)dup
|
|
|
NC_000015.9:g.(?_48703167)_(48726930_?)dup
|
|
|
NC_000015.9:g.(?_48703177)_(48726920_?)dup
|
|
|
NC_000015.9:g.(?_48703187)_(48748979_?)dup
|
|
|
NC_000015.9:g.(?_48703187)_(48936966_?)dup
|
|
|
NC_000015.9:g.(?_48729138)_(48730134_?)dup
|
|
|
NC_000015.9:g.(?_48760115)_(48760319_?)dup
|
|
|
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.7703_7708delTGGACG
|
rs1060501015
|
|
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.-108G>A
|
rs1029606067
|
|
NM_000138.5(FBN1):c.-117del
|
rs193922178
|
|
NM_000138.5(FBN1):c.-132A>C
|
rs886051255
|
|
NM_000138.5(FBN1):c.-70C>A
|
rs886051253
|
|
NM_000138.5(FBN1):c.1015G>A (p.Ala339Thr)
|
rs2141336224
|
|
NM_000138.5(FBN1):c.1015G>T (p.Ala339Ser)
|
rs2141336224
|
|
NM_000138.5(FBN1):c.1048C>T (p.Pro350Ser)
|
|
|
NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu)
|
rs750653834
|
|
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)
|
rs1555400606
|
|
NM_000138.5(FBN1):c.1082A>T (p.Asp361Val)
|
rs2043845991
|
|
NM_000138.5(FBN1):c.1099T>C (p.Ser367Pro)
|
rs2043845566
|
|
NM_000138.5(FBN1):c.109A>T (p.Thr37Ser)
|
rs1890260265
|
|
NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)
|
|
|
NM_000138.5(FBN1):c.1106G>C (p.Gly369Ala)
|
|
|
NM_000138.5(FBN1):c.1118C>A (p.Ala373Asp)
|
|
|
NM_000138.5(FBN1):c.1125G>T (p.Glu375Asp)
|
|
|
NM_000138.5(FBN1):c.1128_1147+2dup
|
|
|
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly)
|
|
|
NM_000138.5(FBN1):c.1133C>G (p.Pro378Arg)
|
rs1274000764
|
|
NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)
|
|
|
NM_000138.5(FBN1):c.1145C>T (p.Thr382Ile)
|
|
|
NM_000138.5(FBN1):c.1147+3A>C
|
rs1597583956
|
|
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)
|
rs794728325
|
|
NM_000138.5(FBN1):c.1156A>C (p.Asn386His)
|
rs1597581597
|
|
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro)
|
rs779113310
|
|
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1178T>C (p.Met393Thr)
|
|
|
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)
|
rs886051250
|
|
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala)
|
rs886039155
|
|
NM_000138.5(FBN1):c.1196C>T (p.Pro399Leu)
|
rs1363393532
|
|
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
|
|
|
NM_000138.5(FBN1):c.1202A>G (p.Tyr401Cys)
|
rs2141331103
|
|
NM_000138.5(FBN1):c.1205C>T (p.Pro402Leu)
|
rs1597581542
|
|
NM_000138.5(FBN1):c.1226T>G (p.Ile409Ser)
|
|
|
NM_000138.5(FBN1):c.122G>C (p.Arg41Pro)
|
rs1890259872
|
|
NM_000138.5(FBN1):c.1231C>T (p.Pro411Ser)
|
rs2141331032
|
|
NM_000138.5(FBN1):c.1262C>T (p.Pro421Leu)
|
|
|
NM_000138.5(FBN1):c.1270C>A (p.Gln424Lys)
|
|
|
NM_000138.5(FBN1):c.1273A>G (p.Ile425Val)
|
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1286G>C (p.Arg429Pro)
|
|
|
NM_000138.5(FBN1):c.1288C>A (p.Pro430Thr)
|
rs2043799392
|
|
NM_000138.5(FBN1):c.128A>C (p.Lys43Thr)
|
rs766081333
|
|
NM_000138.5(FBN1):c.1313C>G (p.Ser438Cys)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.131G>A (p.Arg44Lys)
|
rs1890259213
|
|
NM_000138.5(FBN1):c.1321C>A (p.Pro441Thr)
|
|
|
NM_000138.5(FBN1):c.1322C>T (p.Pro441Leu)
|
|
|
NM_000138.5(FBN1):c.1328-9T>A
|
rs1209671382
|
|
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser)
|
rs1890259134
|
|
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly)
|
rs1597652333
|
|
NM_000138.5(FBN1):c.1369C>T (p.Arg457Cys)
|
rs2141330047
|
|
NM_000138.5(FBN1):c.1390C>A (p.Arg464Ser)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
NM_000138.5(FBN1):c.139G>T (p.Gly47Cys)
|
rs762400500
|
|
NM_000138.5(FBN1):c.1418G>A (p.Arg473Gln)
|
|
|
NM_000138.5(FBN1):c.1436G>A (p.Gly479Glu)
|
rs1247260475
|
|
NM_000138.5(FBN1):c.143G>A (p.Gly48Glu)
|
|
|
NM_000138.5(FBN1):c.1448A>C (p.Asp483Ala)
|
|
|
NM_000138.5(FBN1):c.1457G>A (p.Gly486Glu)
|
rs1597580913
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
NM_000138.5(FBN1):c.1468+5del
|
|
|
NM_000138.5(FBN1):c.1468G>A (p.Asp490Asn)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1469-2_1470dup
|
rs1597580040
|
|
NM_000138.5(FBN1):c.146G>C (p.Gly49Ala)
|
rs1382204819
|
|
NM_000138.5(FBN1):c.1472T>C (p.Val491Ala)
|
rs2043779139
|
|
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro)
|
rs886044236
|
|
NM_000138.5(FBN1):c.1502G>T (p.Gly501Val)
|
|
|
NM_000138.5(FBN1):c.1504G>T (p.Gly502Cys)
|
rs762111810
|
|
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)
|
rs2043778389
|
|
NM_000138.5(FBN1):c.1523_1525del (p.Gln508_Gly509delinsArg)
|
|
|
NM_000138.5(FBN1):c.1524G>C (p.Gln508His)
|
rs1566916256
|
|
NM_000138.5(FBN1):c.1526G>A (p.Gly509Asp)
|
|
|
NM_000138.5(FBN1):c.1535C>T (p.Thr512Ile)
|
rs1555400280
|
|
NM_000138.5(FBN1):c.153C>A (p.Asp51Glu)
|
rs1057524406
|
|
NM_000138.5(FBN1):c.1553G>T (p.Gly518Val)
|
rs794728169
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.155_156delinsTT (p.Ala52Val)
|
rs2140787437
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.1589-12C>G
|
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly)
|
rs794728171
|
|
NM_000138.5(FBN1):c.1589A>T (p.Asp530Val)
|
|
|
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly)
|
rs745422205
|
|
NM_000138.5(FBN1):c.1603T>G (p.Leu535Val)
|
|
|
NM_000138.5(FBN1):c.1628A>T (p.Asn543Ile)
|
rs1060501098
|
|
NM_000138.5(FBN1):c.1639A>C (p.Ile547Leu)
|
|
|
NM_000138.5(FBN1):c.164+3A>C
|
rs1597652265
|
|
NM_000138.5(FBN1):c.164+3A>G
|
|
|
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn)
|
rs112269822
|
|
NM_000138.5(FBN1):c.165-14T>A
|
|
|
NM_000138.5(FBN1):c.165-32del
|
rs193922180
|
|
NM_000138.5(FBN1):c.165-46CTT[2]
|
rs386134232
|
|
NM_000138.5(FBN1):c.1657T>A (p.Phe553Ile)
|
rs2043746162
|
|
NM_000138.5(FBN1):c.1661A>C (p.His554Pro)
|
|
|
NM_000138.5(FBN1):c.1666G>A (p.Val556Met)
|
rs1239988676
|
|
NM_000138.5(FBN1):c.1693C>G (p.Arg565Gly)
|
|
|
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser)
|
rs2044669666
|
|
NM_000138.5(FBN1):c.1713A>G (p.Glu571=)
|
|
|
NM_000138.5(FBN1):c.1714+4A>G
|
rs1189850321
|
|
NM_000138.5(FBN1):c.1714+5T>C
|
rs2043745384
|
|
NM_000138.5(FBN1):c.1714G>A (p.Asp572Asn)
|
rs2141323230
|
|
NM_000138.5(FBN1):c.1715A>G (p.Asp572Gly)
|
rs1555399976
|
|
NM_000138.5(FBN1):c.1717A>G (p.Met573Val)
|
|
|
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys)
|
rs1259811604
|
|
NM_000138.5(FBN1):c.1726T>A (p.Cys576Ser)
|
rs794728174
|
|
NM_000138.5(FBN1):c.1733T>G (p.Ile578Arg)
|
|
|
NM_000138.5(FBN1):c.1741A>G (p.Met581Val)
|
|
|
NM_000138.5(FBN1):c.1754G>C (p.Gly585Ala)
|
rs1060501041
|
|
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.1805T>G (p.Phe602Cys)
|
|
|
NM_000138.5(FBN1):c.1823G>A (p.Gly608Glu)
|
rs368283028
|
|
NM_000138.5(FBN1):c.1832G>A (p.Cys611Tyr)
|
|
|
NM_000138.5(FBN1):c.1835A>G (p.Lys612Arg)
|
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu)
|
rs1555399833
|
|
NM_000138.5(FBN1):c.1871T>C (p.Met624Thr)
|
rs1597575080
|
|
NM_000138.5(FBN1):c.1871T>G (p.Met624Arg)
|
rs1597575080
|
|
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)
|
rs1303389437
|
|
NM_000138.5(FBN1):c.1897G>T (p.Gly633Cys)
|
rs2141317297
|
|
NM_000138.5(FBN1):c.1908A>G (p.Arg636=)
|
rs886039089
|
|
NM_000138.5(FBN1):c.1908A>T (p.Arg636Ser)
|
|
|
NM_000138.5(FBN1):c.1912G>A (p.Glu638Lys)
|
rs2141317254
|
|
NM_000138.5(FBN1):c.1928T>G (p.Leu643Arg)
|
rs1555399813
|
|
NM_000138.5(FBN1):c.1929_1930delinsTT (p.Ala644Ser)
|
rs1555399812
|
|
NM_000138.5(FBN1):c.1939C>G (p.Leu647Val)
|
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu)
|
rs2141317175
|
|
NM_000138.5(FBN1):c.1960+6A>T
|
rs1200860234
|
|
NM_000138.5(FBN1):c.1960G>C (p.Asp654His)
|
rs1566913969
|
|
NM_000138.5(FBN1):c.1961-3T>C
|
|
|
NM_000138.5(FBN1):c.1963A>G (p.Thr655Ala)
|
|
|
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
|
|
|
NM_000138.5(FBN1):c.1967A>G (p.His656Arg)
|
rs1555399777
|
|
NM_000138.5(FBN1):c.1970T>C (p.Met657Thr)
|
rs2043686451
|
|
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln)
|
rs794728181
|
|
NM_000138.5(FBN1):c.197A>T (p.Tyr66Phe)
|
|
|
NM_000138.5(FBN1):c.1984T>G (p.Tyr662Asp)
|
|
|
NM_000138.5(FBN1):c.2006A>C (p.Gln669Pro)
|
|
|
NM_000138.5(FBN1):c.2022G>C (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2022G>T (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2026G>T (p.Gly676Cys)
|
rs2141315849
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
NM_000138.5(FBN1):c.2044G>C (p.Glu682Gln)
|
rs908212152
|
|
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.2084C>A (p.Pro695His)
|
rs1555399754
|
|
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg)
|
rs2044669023
|
|
NM_000138.5(FBN1):c.2091G>T (p.Gln697His)
|
rs1555399752
|
|
NM_000138.5(FBN1):c.2099C>T (p.Pro700Leu)
|
rs2141315649
|
|
NM_000138.5(FBN1):c.209G>T (p.Gly70Val)
|
|
|
NM_000138.5(FBN1):c.210A>T (p.Gly70=)
|
|
|
NM_000138.5(FBN1):c.2112A>C (p.Ser704=)
|
|
|
NM_000138.5(FBN1):c.2112A>T (p.Ser704=)
|
|
|
NM_000138.5(FBN1):c.2113+4T>C
|
rs2141315610
|
|
NM_000138.5(FBN1):c.2114-5T>G
|
|
|
NM_000138.5(FBN1):c.2114C>T (p.Ala705Val)
|
rs1426292408
|
|
NM_000138.5(FBN1):c.2140G>A (p.Gly714Arg)
|
rs1566912644
|
|
NM_000138.5(FBN1):c.2140G>C (p.Gly714Arg)
|
rs1566912644
|
|
NM_000138.5(FBN1):c.2141G>A (p.Gly714Glu)
|
rs2141308882
|
|
NM_000138.5(FBN1):c.2144C>T (p.Pro715Leu)
|
|
|
NM_000138.5(FBN1):c.2167+2dup
|
rs2043632840
|
|
NM_000138.5(FBN1):c.2167+4A>G
|
rs2141308773
|
|
NM_000138.5(FBN1):c.2168-9G>T
|
rs747772665
|
|
NM_000138.5(FBN1):c.2170A>G (p.Ile724Val)
|
|
|
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr)
|
rs878853677
|
|
NM_000138.5(FBN1):c.2191C>G (p.Pro731Ala)
|
|
|
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp)
|
rs878853678
|
|
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)
|
rs1566912242
|
|
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala)
|
rs2043616665
|
|
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.2245A>C (p.Ile749Leu)
|
|
|
NM_000138.5(FBN1):c.2245A>G (p.Ile749Val)
|
rs1555399370
|
|
NM_000138.5(FBN1):c.2254_2256del (p.Ser752del)
|
rs2043616319
|
|
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2275A>G (p.Thr759Ala)
|
rs2141306342
|
|
NM_000138.5(FBN1):c.2286C>G (p.Asn762Lys)
|
rs2043616066
|
|
NM_000138.5(FBN1):c.2294-11T>A
|
|
|
NM_000138.5(FBN1):c.2294-3C>A
|
|
|
NM_000138.5(FBN1):c.2294-6_2294-5del
|
rs2043607725
|
|
NM_000138.5(FBN1):c.2296A>G (p.Ile766Val)
|
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2302G>A (p.Glu768Lys)
|
|
|
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala)
|
rs794728189
|
|
NM_000138.5(FBN1):c.2311C>G (p.Leu771Val)
|
rs2043607479
|
|
NM_000138.5(FBN1):c.2315A>G (p.Asn772Ser)
|
rs2043607383
|
|
NM_000138.5(FBN1):c.2335G>A (p.Gly779Arg)
|
|
|
NM_000138.5(FBN1):c.2339A>C (p.Gln780Pro)
|
rs886039058
|
|
NM_000138.5(FBN1):c.2348_2359del (p.Asn783_Gly786del)
|
rs2043606899
|
|
NM_000138.5(FBN1):c.2349T>A (p.Asn783Lys)
|
rs1057522903
|
|
NM_000138.5(FBN1):c.2353_2355del (p.Pro785del)
|
rs1597569606
|
|
NM_000138.5(FBN1):c.2356G>A (p.Gly786Arg)
|
|
|
NM_000138.5(FBN1):c.2384G>A (p.Gly795Glu)
|
|
|
NM_000138.5(FBN1):c.2384G>T (p.Gly795Val)
|
rs1555399267
|
|
NM_000138.5(FBN1):c.2411C>T (p.Thr804Ile)
|
|
|
NM_000138.5(FBN1):c.2416G>A (p.Glu806Lys)
|
rs1555399258
|
|
NM_000138.5(FBN1):c.2418A>G (p.Glu806=)
|
rs794728191
|
|
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn)
|
rs1566911886
|
|
NM_000138.5(FBN1):c.2420-8T>A
|
rs140582
|
|
NM_000138.5(FBN1):c.2426A>G (p.Asp809Gly)
|
rs1555399211
|
|
NM_000138.5(FBN1):c.244G>A (p.Val82Ile)
|
|
|
NM_000138.5(FBN1):c.2458G>T (p.Val820Phe)
|
|
|
NM_000138.5(FBN1):c.2459T>C (p.Val820Ala)
|
|
|
NM_000138.5(FBN1):c.246C>G (p.Val82=)
|
|
|
NM_000138.5(FBN1):c.247+4del
|
|
|
NM_000138.5(FBN1):c.247+5G>A
|
rs2044668542
|
|
NM_000138.5(FBN1):c.247+5G>C
|
|
|
NM_000138.5(FBN1):c.247+9A>G
|
rs1298547542
|
|
NM_000138.5(FBN1):c.2473C>T (p.Pro825Ser)
|
|
|
NM_000138.5(FBN1):c.2477G>A (p.Gly826Asp)
|
rs1555399200
|
|
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro)
|
rs193922189
|
|
NM_000138.5(FBN1):c.247C>T (p.Pro83Ser)
|
|
|
NM_000138.5(FBN1):c.2480C>G (p.Ser827Cys)
|
rs375382957
|
|
NM_000138.5(FBN1):c.248C>T (p.Pro83Leu)
|
rs1206249804
|
|
NM_000138.5(FBN1):c.2515G>A (p.Asp839Asn)
|
|
|
NM_000138.5(FBN1):c.2519C>A (p.Pro840Gln)
|
|
|
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
|
rs1381506466
|
|
NM_000138.5(FBN1):c.2539+6T>G
|
rs2043598669
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
NM_000138.5(FBN1):c.2543C>A (p.Thr848Asn)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2543C>T (p.Thr848Ile)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2545A>G (p.Ile849Val)
|
rs2043596507
|
|
NM_000138.5(FBN1):c.2551G>A (p.Gly851Ser)
|
rs2141303833
|
|
NM_000138.5(FBN1):c.2554A>G (p.Thr852Ala)
|
rs2141303822
|
|
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.2567C>T (p.Thr856Ile)
|
|
|
NM_000138.5(FBN1):c.257G>A (p.Arg86Gln)
|
rs2044650738
|
|
NM_000138.5(FBN1):c.2595C>A (p.Asn865Lys)
|
|
|
NM_000138.5(FBN1):c.2597T>A (p.Ile866Asn)
|
|
|
NM_000138.5(FBN1):c.260A>G (p.His87Arg)
|
rs1060501080
|
|
NM_000138.5(FBN1):c.2612T>C (p.Leu871Ser)
|
|
|
NM_000138.5(FBN1):c.2618C>T (p.Ser873Phe)
|
rs2043595271
|
|
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)
|
rs2043595247
|
|
NM_000138.5(FBN1):c.2630C>T (p.Ser877Phe)
|
rs1555399153
|
|
NM_000138.5(FBN1):c.2641G>A (p.Ala881Thr)
|
rs781682561
|
|
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu)
|
rs1060501083
|
|
NM_000138.5(FBN1):c.2666T>C (p.Leu889Pro)
|
rs1393818056
|
|
NM_000138.5(FBN1):c.2677+3A>G
|
rs1060501071
|
|
NM_000138.5(FBN1):c.2677+5G>A
|
rs1085307946
|
|
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2678-6T>G
|
rs1555399102
|
|
NM_000138.5(FBN1):c.2696G>C (p.Gly899Ala)
|
rs1555399094
|
|
NM_000138.5(FBN1):c.2702C>T (p.Ser901Leu)
|
|
|
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu)
|
rs1060501091
|
|
NM_000138.5(FBN1):c.2723G>T (p.Cys908Phe)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2727A>G (p.Glu909=)
|
|
|
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val)
|
rs1284769637
|
|
NM_000138.5(FBN1):c.2736_2738del (p.Asp912del)
|
rs1566910954
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2746G>C (p.Val916Leu)
|
rs373644734
|
|
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser)
|
rs1555398992
|
|
NM_000138.5(FBN1):c.2758G>A (p.Val920Met)
|
|
|
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile)
|
|
|
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr)
|
rs1489199503
|
|
NM_000138.5(FBN1):c.2801A>G (p.Lys934Arg)
|
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
NM_000138.5(FBN1):c.2833G>C (p.Ala945Pro)
|
|
|
NM_000138.5(FBN1):c.2854+4A>G
|
|
|
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.2882G>A (p.Arg961Lys)
|
rs886039100
|
|
NM_000138.5(FBN1):c.2887G>A (p.Glu963Lys)
|
rs745709588
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile)
|
rs781698952
|
|
NM_000138.5(FBN1):c.2909C>G (p.Pro970Arg)
|
|
|
NM_000138.5(FBN1):c.2923C>T (p.His975Tyr)
|
rs1597565510
|
|
NM_000138.5(FBN1):c.2929A>G (p.Met977Val)
|
rs776833421
|
|
NM_000138.5(FBN1):c.2930T>C (p.Met977Thr)
|
|
|
NM_000138.5(FBN1):c.2933A>G (p.Asp978Gly)
|
|
|
NM_000138.5(FBN1):c.2935G>T (p.Ala979Ser)
|
rs748915171
|
|
NM_000138.5(FBN1):c.2948C>T (p.Ser983Phe)
|
rs2141297315
|
|
NM_000138.5(FBN1):c.2949C>A (p.Ser983=)
|
rs769307676
|
|
NM_000138.5(FBN1):c.2959G>C (p.Ala987Pro)
|
rs2141297282
|
|
NM_000138.5(FBN1):c.2964_2965delinsTT (p.Trp988_Gly989delinsCysCys)
|
rs2141297274
|
|
NM_000138.5(FBN1):c.2965G>A (p.Gly989Ser)
|
|
|
NM_000138.5(FBN1):c.2976A>C (p.Glu992Asp)
|
|
|
NM_000138.5(FBN1):c.2992A>G (p.Met998Val)
|
rs750727783
|
|
NM_000138.5(FBN1):c.2999A>T (p.Asn1000Ile)
|
rs2043543012
|
|
NM_000138.5(FBN1):c.3002C>A (p.Thr1001Asn)
|
|
|
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
|
rs148076256
|
|
NM_000138.5(FBN1):c.302C>T (p.Thr101Ile)
|
|
|
NM_000138.5(FBN1):c.3035C>A (p.Pro1012His)
|
rs113990281
|
|
NM_000138.5(FBN1):c.3035C>G (p.Pro1012Arg)
|
rs113990281
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3059C>A (p.Thr1020Lys)
|
|
|
NM_000138.5(FBN1):c.3064G>A (p.Gly1022Arg)
|
|
|
NM_000138.5(FBN1):c.3065G>A (p.Gly1022Glu)
|
rs1597565278
|
|
NM_000138.5(FBN1):c.3076T>C (p.Phe1026Leu)
|
|
|
NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu)
|
rs2141297017
|
|
NM_000138.5(FBN1):c.3081A>T (p.Lys1027Asn)
|
rs1555398771
|
|
NM_000138.5(FBN1):c.3082+9T>G
|
rs746303949
|
|
NM_000138.5(FBN1):c.3083A>C (p.Asp1028Ala)
|
|
|
NM_000138.5(FBN1):c.3107C>T (p.Pro1036Leu)
|
|
|
NM_000138.5(FBN1):c.3126C>T (p.Gly1042=)
|
rs1566909928
|
|
NM_000138.5(FBN1):c.3129G>T (p.Lys1043Asn)
|
rs749552425
|
|
NM_000138.5(FBN1):c.3136A>C (p.Asn1046His)
|
rs2141295243
|
|
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)
|
rs2141295239
|
|
NM_000138.5(FBN1):c.3149G>C (p.Ser1050Thr)
|
rs987202268
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.3162G>C (p.Arg1054Ser)
|
rs746021219
|
|
NM_000138.5(FBN1):c.319A>G (p.Ile107Val)
|
|
|
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu)
|
rs2140733930
|
|
NM_000138.5(FBN1):c.31C>G (p.Leu11Val)
|
|
|
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala)
|
rs761632843
|
|
NM_000138.5(FBN1):c.3208+5G>A
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3208+5G>C
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3209-3del
|
rs2141294880
|
|
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.3224G>C (p.Arg1075Pro)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3227T>C (p.Ile1076Thr)
|
|
|
NM_000138.5(FBN1):c.3238C>T (p.Leu1080Phe)
|
|
|
NM_000138.5(FBN1):c.3239T>C (p.Leu1080Pro)
|
rs2043525655
|
|
NM_000138.5(FBN1):c.3239T>G (p.Leu1080Arg)
|
rs2043525655
|
|
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg)
|
rs1031572615
|
|
NM_000138.5(FBN1):c.3259G>A (p.Val1087Met)
|
|
|
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser)
|
rs1555398635
|
|
NM_000138.5(FBN1):c.3264C>A (p.Asn1088Lys)
|
rs2043525387
|
|
NM_000138.5(FBN1):c.3265A>G (p.Thr1089Ala)
|
|
|
NM_000138.5(FBN1):c.3287A>G (p.Lys1096Arg)
|
|
|
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.3315C>G (p.Phe1105Leu)
|
|
|
NM_000138.5(FBN1):c.3319A>G (p.Met1107Val)
|
|
|
NM_000138.5(FBN1):c.3321G>A (p.Met1107Ile)
|
|
|
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.338C>G (p.Ser113Cys)
|
rs869025403
|
|
NM_000138.5(FBN1):c.3394A>G (p.Thr1132Ala)
|
|
|
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg)
|
rs2043517357
|
|
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)
|
rs1163486953
|
|
NM_000138.5(FBN1):c.3431A>G (p.His1144Arg)
|
|
|
NM_000138.5(FBN1):c.3460A>T (p.Ile1154Phe)
|
rs1043235195
|
|
NM_000138.5(FBN1):c.3462C>A (p.Ile1154=)
|
|
|
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.3503A>T (p.Asn1168Ile)
|
|
|
NM_000138.5(FBN1):c.3506G>A (p.Gly1169Asp)
|
rs794728330
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3521T>C (p.Leu1174Pro)
|
rs1555398517
|
|
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)
|
rs1555398512
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
NM_000138.5(FBN1):c.3568C>A (p.Pro1190Thr)
|
|
|
NM_000138.5(FBN1):c.3569_3570delinsAA (p.Pro1190Gln)
|
rs2043514115
|
|
NM_000138.5(FBN1):c.3572A>G (p.Asp1191Gly)
|
|
|
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly)
|
rs2043513994
|
|
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro)
|
rs2141293110
|
|
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.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3590A>T (p.Asp1197Val)
|
rs112025387
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3605_3606delinsTT (p.Ser1202Ile)
|
rs2043498514
|
|
NM_000138.5(FBN1):c.3625_3627dup (p.Glu1209_Thr1210insGlu)
|
|
|
NM_000138.5(FBN1):c.3626A>T (p.Glu1209Val)
|
rs1597561500
|
|
NM_000138.5(FBN1):c.3632T>C (p.Phe1211Ser)
|
|
|
NM_000138.5(FBN1):c.3643T>C (p.Ser1215Pro)
|
|
|
NM_000138.5(FBN1):c.3644C>T (p.Ser1215Phe)
|
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.3656A>C (p.Tyr1219Ser)
|
|
|
NM_000138.5(FBN1):c.3671A>G (p.Gln1224Arg)
|
rs2141291295
|
|
NM_000138.5(FBN1):c.3681T>G (p.Phe1227Leu)
|
rs2043497341
|
|
NM_000138.5(FBN1):c.3694G>A (p.Asp1232Asn)
|
|
|
NM_000138.5(FBN1):c.3702A>T (p.Arg1234Ser)
|
|
|
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His)
|
rs794728208
|
|
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.3758A>C (p.Gln1253Pro)
|
|
|
NM_000138.5(FBN1):c.3759G>C (p.Gln1253His)
|
rs2141289701
|
|
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser)
|
rs397515795
|
|
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.379G>T (p.Gly127Cys)
|
|
|
NM_000138.5(FBN1):c.3808A>T (p.Met1270Leu)
|
|
|
NM_000138.5(FBN1):c.380G>T (p.Gly127Val)
|
|
|
NM_000138.5(FBN1):c.3815C>A (p.Ser1272Tyr)
|
rs1555398270
|
|
NM_000138.5(FBN1):c.3823A>G (p.Met1275Val)
|
rs747414686
|
|
NM_000138.5(FBN1):c.3838+3A>T
|
rs1555398265
|
|
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3848A>T (p.Glu1283Val)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3853G>A (p.Asp1285Asn)
|
rs1555398171
|
|
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr)
|
rs2043467019
|
|
NM_000138.5(FBN1):c.3875T>C (p.Leu1292Pro)
|
rs2141287453
|
|
NM_000138.5(FBN1):c.3881G>T (p.Gly1294Val)
|
rs1060501064
|
|
NM_000138.5(FBN1):c.3903C>T (p.Gly1301=)
|
rs1018707026
|
|
NM_000138.5(FBN1):c.3904T>C (p.Ser1302Pro)
|
rs2141287376
|
|
NM_000138.5(FBN1):c.3938G>C (p.Gly1313Ala)
|
|
|
NM_000138.5(FBN1):c.3944A>G (p.Lys1315Arg)
|
|
|
NM_000138.5(FBN1):c.3956G>C (p.Gly1319Ala)
|
|
|
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile)
|
rs750219182
|
|
NM_000138.5(FBN1):c.3963A>T (p.Thr1321=)
|
|
|
NM_000138.5(FBN1):c.3964+5G>T
|
rs2043465883
|
|
NM_000138.5(FBN1):c.3964G>T (p.Asp1322Tyr)
|
|
|
NM_000138.5(FBN1):c.3971A>C (p.Asn1324Thr)
|
|
|
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala)
|
rs794728331
|
|
NM_000138.5(FBN1):c.3988G>C (p.Ala1330Pro)
|
|
|
NM_000138.5(FBN1):c.3989C>T (p.Ala1330Val)
|
|
|
NM_000138.5(FBN1):c.4009G>C (p.Ala1337Pro)
|
rs753648789
|
|
NM_000138.5(FBN1):c.4033A>C (p.Ser1345Arg)
|
|
|
NM_000138.5(FBN1):c.4034G>T (p.Ser1345Ile)
|
rs767079851
|
|
NM_000138.5(FBN1):c.4057G>C (p.Gly1353Arg)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4066G>A (p.Gly1356Arg)
|
rs867460746
|
|
NM_000138.5(FBN1):c.4088A>T (p.Asp1363Val)
|
rs2043402890
|
|
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly)
|
rs794728217
|
|
NM_000138.5(FBN1):c.4111A>G (p.Thr1371Ala)
|
|
|
NM_000138.5(FBN1):c.4125C>G (p.Ser1375Arg)
|
rs1555397666
|
|
NM_000138.5(FBN1):c.4127A>G (p.Gln1376Arg)
|
rs1597553861
|
|
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu)
|
rs1238143005
|
|
NM_000138.5(FBN1):c.4143G>C (p.Lys1381Asn)
|
rs2043402274
|
|
NM_000138.5(FBN1):c.4144A>T (p.Asn1382Tyr)
|
|
|
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr)
|
rs1555397658
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp)
|
rs1555397656
|
|
NM_000138.5(FBN1):c.4162C>A (p.Arg1388Ser)
|
rs770860280
|
|
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu)
|
rs756683929
|
|
NM_000138.5(FBN1):c.4183T>C (p.Tyr1395His)
|
rs1555397653
|
|
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)
|
rs2043401571
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4193A>G (p.Asp1398Gly)
|
rs781045902
|
|
NM_000138.5(FBN1):c.4208C>T (p.Thr1403Ile)
|
|
|
NM_000138.5(FBN1):c.4210+11G>A
|
rs148057138
|
|
NM_000138.5(FBN1):c.4210+3A>G
|
rs1457293645
|
|
NM_000138.5(FBN1):c.4210+3A>T
|
|
|
NM_000138.5(FBN1):c.4210G>C (p.Asp1404His)
|
rs794728220
|
|
NM_000138.5(FBN1):c.424G>A (p.Gly142Arg)
|
|
|
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu)
|
rs1555405036
|
|
NM_000138.5(FBN1):c.4262T>C (p.Leu1421Pro)
|
rs2043386032
|
|
NM_000138.5(FBN1):c.4265A>G (p.Asn1422Ser)
|
rs1057517910
|
|
NM_000138.5(FBN1):c.4276G>A (p.Gly1426Arg)
|
rs1597552464
|
|
NM_000138.5(FBN1):c.4277G>C (p.Gly1426Ala)
|
rs531751210
|
|
NM_000138.5(FBN1):c.4282C>G (p.Arg1428Gly)
|
rs1258352189
|
|
NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)
|
|
|
NM_000138.5(FBN1):c.4300G>T (p.Gly1434Cys)
|
|
|
NM_000138.5(FBN1):c.430C>T (p.His144Tyr)
|
|
|
NM_000138.5(FBN1):c.4321G>T (p.Gly1441Trp)
|
|
|
NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr)
|
|
|
NM_000138.5(FBN1):c.432C>A (p.His144Gln)
|
|
|
NM_000138.5(FBN1):c.432C>G (p.His144Gln)
|
|
|
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)
|
rs869025406
|
|
NM_000138.5(FBN1):c.4337-5C>A
|
rs370959127
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp)
|
rs1555397423
|
|
NM_000138.5(FBN1):c.4358C>A (p.Pro1453Gln)
|
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys)
|
rs1555397412
|
|
NM_000138.5(FBN1):c.43G>A (p.Val15Met)
|
rs1890262474
|
|
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu)
|
rs780479561
|
|
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu)
|
rs397515808
|
|
NM_000138.5(FBN1):c.440A>G (p.Gln147Arg)
|
rs747815650
|
|
NM_000138.5(FBN1):c.442+4A>C
|
rs768207411
|
|
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys)
|
rs869025407
|
|
NM_000138.5(FBN1):c.443-15C>A
|
rs2044516377
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
NM_000138.5(FBN1):c.4458A>C (p.Thr1486=)
|
|
|
NM_000138.5(FBN1):c.4459+3A>C
|
|
|
NM_000138.5(FBN1):c.4459+3A>T
|
rs397515809
|
|
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu)
|
rs1566904712
|
|
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.4469A>G (p.Glu1490Gly)
|
rs2043341806
|
|
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met)
|
rs776199613
|
|
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.4516C>G (p.Pro1506Ala)
|
rs794728224
|
|
NM_000138.5(FBN1):c.4521C>T (p.Gly1507=)
|
rs1425634624
|
|
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile)
|
rs1555397207
|
|
NM_000138.5(FBN1):c.4543C>T (p.Pro1515Ser)
|
rs1219583611
|
|
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn)
|
rs1288527435
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
NM_000138.5(FBN1):c.4574G>A (p.Gly1525Asp)
|
rs1597549030
|
|
NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)
|
|
|
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser)
|
rs995711019
|
|
NM_000138.5(FBN1):c.4582+3A>T
|
rs777845323
|
|
NM_000138.5(FBN1):c.4582+4del
|
rs2141272841
|
|
NM_000138.5(FBN1):c.4582+5G>C
|
rs140633
|
|
NM_000138.5(FBN1):c.4582G>A (p.Asp1528Asn)
|
|
|
NM_000138.5(FBN1):c.4583-10T>A
|
rs1379865323
|
|
NM_000138.5(FBN1):c.4583-12T>G
|
|
|
NM_000138.5(FBN1):c.4585A>G (p.Thr1529Ala)
|
|
|
NM_000138.5(FBN1):c.458G>C (p.Gly153Ala)
|
|
|
NM_000138.5(FBN1):c.4607T>G (p.Leu1536Trp)
|
rs2043337989
|
|
NM_000138.5(FBN1):c.4619C>G (p.Pro1540Arg)
|
rs2043337860
|
|
NM_000138.5(FBN1):c.4635A>T (p.Gly1545=)
|
rs1555397167
|
|
NM_000138.5(FBN1):c.4663G>C (p.Val1555Leu)
|
rs760055928
|
|
NM_000138.5(FBN1):c.4664T>C (p.Val1555Ala)
|
|
|
NM_000138.5(FBN1):c.4678G>A (p.Ala1560Thr)
|
rs142858432
|
|
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
|
|
|
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe)
|
rs1555397156
|
|
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala)
|
rs1597548645
|
|
NM_000138.5(FBN1):c.4742A>G (p.Asn1581Ser)
|
|
|
NM_000138.5(FBN1):c.4744A>G (p.Thr1582Ala)
|
|
|
NM_000138.5(FBN1):c.4744A>T (p.Thr1582Ser)
|
|
|
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile)
|
|
|
NM_000138.5(FBN1):c.4747+5G>C
|
rs193922209
|
|
NM_000138.5(FBN1):c.4748-2dup
|
rs2043316552
|
|
NM_000138.5(FBN1):c.4748-3T>G
|
rs770762644
|
|
NM_000138.5(FBN1):c.4748-4A>G
|
|
|
NM_000138.5(FBN1):c.4748C>A (p.Ser1583Tyr)
|
|
|
NM_000138.5(FBN1):c.474_476del (p.Arg159del)
|
rs2140711718
|
|
NM_000138.5(FBN1):c.4775G>A (p.Gly1592Glu)
|
rs1555397019
|
|
NM_000138.5(FBN1):c.4778A>G (p.Glu1593Gly)
|
|
|
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln)
|
rs769588424
|
|
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.4799T>G (p.Ile1600Ser)
|
|
|
NM_000138.5(FBN1):c.47T>A (p.Leu16His)
|
rs1555407424
|
|
NM_000138.5(FBN1):c.4802C>G (p.Thr1601Ser)
|
|
|
NM_000138.5(FBN1):c.4816+4A>G
|
rs2141269898
|
|
NM_000138.5(FBN1):c.4816G>A (p.Asp1606Asn)
|
rs2043315819
|
|
NM_000138.5(FBN1):c.4817-22_4817-14delinsAGCC
|
|
|
NM_000138.5(FBN1):c.4817-3_4818dup
|
rs2141269780
|
|
NM_000138.5(FBN1):c.4847T>A (p.Leu1616Gln)
|
|
|
NM_000138.5(FBN1):c.4886T>A (p.Phe1629Tyr)
|
|
|
NM_000138.5(FBN1):c.4915C>G (p.Leu1639Val)
|
|
|
NM_000138.5(FBN1):c.4932A>G (p.Arg1644=)
|
rs2043313777
|
|
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)
|
rs886038897
|
|
NM_000138.5(FBN1):c.4940A>G (p.Asp1647Gly)
|
|
|
NM_000138.5(FBN1):c.4942+14G>A
|
|
|
NM_000138.5(FBN1):c.4942+15T>C
|
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.4942G>C (p.Asp1648His)
|
rs397515816
|
|
NM_000138.5(FBN1):c.4943A>G (p.Asp1648Gly)
|
|
|
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro)
|
rs1060501079
|
|
NM_000138.5(FBN1):c.4951G>A (p.Glu1651Lys)
|
rs886039152
|
|
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser)
|
rs1471557498
|
|
NM_000138.5(FBN1):c.5000T>C (p.Val1667Ala)
|
|
|
NM_000138.5(FBN1):c.5011A>C (p.Thr1671Pro)
|
|
|
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr)
|
rs2043300504
|
|
NM_000138.5(FBN1):c.5030A>G (p.Asp1677Gly)
|
|
|
NM_000138.5(FBN1):c.5035A>C (p.Met1679Leu)
|
|
|
NM_000138.5(FBN1):c.5035A>G (p.Met1679Val)
|
rs759114752
|
|
NM_000138.5(FBN1):c.5041G>A (p.Val1681Met)
|
|
|
NM_000138.5(FBN1):c.5042T>C (p.Val1681Ala)
|
|
|
NM_000138.5(FBN1):c.5051G>A (p.Gly1684Glu)
|
|
|
NM_000138.5(FBN1):c.5065+2dup
|
rs1555396835
|
|
NM_000138.5(FBN1):c.5066-3T>C
|
rs2141266776
|
|
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.5093A>G (p.Asn1698Ser)
|
rs2043293815
|
|
NM_000138.5(FBN1):c.50T>C (p.Leu17Ser)
|
rs794728201
|
|
NM_000138.5(FBN1):c.5101_5102delinsTT (p.Ala1701Phe)
|
|
|
NM_000138.5(FBN1):c.5102C>T (p.Ala1701Val)
|
|
|
NM_000138.5(FBN1):c.511G>A (p.Gly171Arg)
|
rs1566934693
|
|
NM_000138.5(FBN1):c.5129T>C (p.Leu1710Ser)
|
|
|
NM_000138.5(FBN1):c.5144C>T (p.Thr1715Ile)
|
|
|
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del)
|
rs2043292746
|
|
NM_000138.5(FBN1):c.5179C>T (p.Arg1727Trp)
|
|
|
NM_000138.5(FBN1):c.5200G>A (p.Glu1734Lys)
|
|
|
NM_000138.5(FBN1):c.520G>A (p.Gly174Arg)
|
|
|
NM_000138.5(FBN1):c.5210C>T (p.Pro1737Leu)
|
rs2141266510
|
|
NM_000138.5(FBN1):c.5225-3C>A
|
rs876657810
|
|
NM_000138.5(FBN1):c.5234C>T (p.Ala1745Val)
|
rs2043271430
|
|
NM_000138.5(FBN1):c.524C>G (p.Pro175Arg)
|
|
|
NM_000138.5(FBN1):c.5258_5260dup (p.Pro1753_Gly1754insAla)
|
|
|
NM_000138.5(FBN1):c.5270T>C (p.Ile1757Thr)
|
rs2141264003
|
|
NM_000138.5(FBN1):c.5271C>A (p.Ile1757=)
|
|
|
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
|
|
|
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys)
|
rs1597543452
|
|
NM_000138.5(FBN1):c.5290C>T (p.Pro1764Ser)
|
|
|
NM_000138.5(FBN1):c.5291C>A (p.Pro1764His)
|
rs2043270903
|
|
NM_000138.5(FBN1):c.5293G>T (p.Val1765Phe)
|
|
|
NM_000138.5(FBN1):c.5296+3G>C
|
|
|
NM_000138.5(FBN1):c.5296+6T>C
|
rs1555396629
|
|
NM_000138.5(FBN1):c.5296G>C (p.Asp1766His)
|
rs1555396631
|
|
NM_000138.5(FBN1):c.52G>C (p.Ala18Pro)
|
rs1890262148
|
|
NM_000138.5(FBN1):c.5300T>C (p.Ile1767Thr)
|
|
|
NM_000138.5(FBN1):c.5359G>T (p.Gly1787Cys)
|
|
|
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp)
|
rs2141260386
|
|
NM_000138.5(FBN1):c.5363G>A (p.Ser1788Asn)
|
rs1303042338
|
|
NM_000138.5(FBN1):c.5365T>A (p.Phe1789Ile)
|
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg)
|
rs886051248
|
|
NM_000138.5(FBN1):c.5423-17T>G
|
|
|
NM_000138.5(FBN1):c.5423-18G>T
|
|
|
NM_000138.5(FBN1):c.5423A>G (p.Asp1808Gly)
|
rs2141256144
|
|
NM_000138.5(FBN1):c.5425A>G (p.Ile1809Val)
|
|
|
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.5439G>C (p.Gln1813His)
|
|
|
NM_000138.5(FBN1):c.5458C>A (p.Arg1820Ser)
|
|
|
NM_000138.5(FBN1):c.5473A>G (p.Ile1825Val)
|
rs2141256032
|
|
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser)
|
rs2043210015
|
|
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr)
|
rs1566900504
|
|
NM_000138.5(FBN1):c.5485G>T (p.Gly1829Cys)
|
|
|
NM_000138.5(FBN1):c.5494C>T (p.Arg1832Cys)
|
|
|
NM_000138.5(FBN1):c.5495G>T (p.Arg1832Leu)
|
|
|
NM_000138.5(FBN1):c.5516A>C (p.Tyr1839Ser)
|
|
|
NM_000138.5(FBN1):c.5516A>G (p.Tyr1839Cys)
|
rs758725993
|
|
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile)
|
rs1566900477
|
|
NM_000138.5(FBN1):c.5545+12C>T
|
rs193922213
|
|
NM_000138.5(FBN1):c.5545+3A>G
|
|
|
NM_000138.5(FBN1):c.5546-3C>G
|
|
|
NM_000138.5(FBN1):c.554C>T (p.Pro185Leu)
|
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val)
|
rs2141252254
|
|
NM_000138.5(FBN1):c.5569C>T (p.Pro1857Ser)
|
rs2043179615
|
|
NM_000138.5(FBN1):c.5573A>C (p.Asn1858Thr)
|
rs751472490
|
|
NM_000138.5(FBN1):c.5575A>G (p.Ile1859Val)
|
|
|
NM_000138.5(FBN1):c.5576T>C (p.Ile1859Thr)
|
|
|
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.5588G>A (p.Gly1863Glu)
|
rs113086760
|
|
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)
|
rs145082616
|
|
NM_000138.5(FBN1):c.560T>A (p.Phe187Tyr)
|
|
|
NM_000138.5(FBN1):c.5613C>A (p.Ser1871Arg)
|
rs776310363
|
|
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val)
|
rs1555395977
|
|
NM_000138.5(FBN1):c.5639T>C (p.Phe1880Ser)
|
rs1597535186
|
|
NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val)
|
|
|
NM_000138.5(FBN1):c.5655C>G (p.Asp1885Glu)
|
|
|
NM_000138.5(FBN1):c.565G>T (p.Val189Leu)
|
rs2044026712
|
|
NM_000138.5(FBN1):c.5664G>A (p.Met1888Ile)
|
rs1060501056
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5672-4C>G
|
|
|
NM_000138.5(FBN1):c.5672-8C>G
|
rs2141250478
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5674A>T (p.Ile1892Leu)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)
|
rs1269096957
|
|
NM_000138.5(FBN1):c.5722A>C (p.Thr1908Pro)
|
rs1555395834
|
|
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu)
|
rs886038785
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.572G>T (p.Ser191Ile)
|
|
|
NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser)
|
rs1555395830
|
|
NM_000138.5(FBN1):c.5736C>G (p.Phe1912Leu)
|
rs1555395829
|
|
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.5744G>A (p.Arg1915His)
|
|
|
NM_000138.5(FBN1):c.5746_5748dup (p.Cys1916dup)
|
rs1597533588
|
|
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser)
|
rs867549163
|
|
NM_000138.5(FBN1):c.5762T>G (p.Ile1921Ser)
|
|
|
NM_000138.5(FBN1):c.5770C>A (p.His1924Asn)
|
rs1201849394
|
|
NM_000138.5(FBN1):c.5774A>G (p.Asn1925Ser)
|
rs781395141
|
|
NM_000138.5(FBN1):c.5788+36C>A
|
rs1555395814
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+4C>T
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+5G>C
|
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.5789-10T>A
|
rs2141249325
|
|
NM_000138.5(FBN1):c.5789-11T>G
|
|
|
NM_000138.5(FBN1):c.5789-14G>A
|
|
|
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
|
|
|
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)
|
rs1555395768
|
|
NM_000138.5(FBN1):c.5795A>C (p.Asp1932Ala)
|
rs1329934461
|
|
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys)
|
rs2141249307
|
|
NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly)
|
rs869025409
|
|
NM_000138.5(FBN1):c.5810G>A (p.Gly1937Glu)
|
rs1566898444
|
|
NM_000138.5(FBN1):c.5821C>T (p.Leu1941Phe)
|
rs1555395763
|
|
NM_000138.5(FBN1):c.5828G>T (p.Arg1943Ile)
|
rs1566898433
|
|
NM_000138.5(FBN1):c.5834G>A (p.Gly1945Asp)
|
rs1555395760
|
|
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)
|
rs2141249218
|
|
NM_000138.5(FBN1):c.5856G>T (p.Gly1952=)
|
|
|
NM_000138.5(FBN1):c.5864A>G (p.Gln1955Arg)
|
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)
|
rs886051251
|
|
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg)
|
rs768997549
|
|
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.5918A>G (p.Asp1973Gly)
|
rs794728242
|
|
NM_000138.5(FBN1):c.5924A>G (p.Asn1975Ser)
|
rs2141248181
|
|
NM_000138.5(FBN1):c.5926G>A (p.Glu1976Lys)
|
|
|
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln)
|
rs370940450
|
|
NM_000138.5(FBN1):c.595C>G (p.Leu199Val)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.595C>T (p.Leu199Phe)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His)
|
rs794728243
|
|
NM_000138.5(FBN1):c.5976G>C (p.Leu1992Phe)
|
|
|
NM_000138.5(FBN1):c.5980_5981delinsTT (p.Gly1994Leu)
|
rs1597531779
|
|
NM_000138.5(FBN1):c.5981G>A (p.Gly1994Glu)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5981G>T (p.Gly1994Val)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro)
|
rs1555395649
|
|
NM_000138.5(FBN1):c.5986T>C (p.Tyr1996His)
|
|
|
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val)
|
rs183690919
|
|
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu)
|
rs1566898093
|
|
NM_000138.5(FBN1):c.6036A>G (p.Glu2012=)
|
rs1597531690
|
|
NM_000138.5(FBN1):c.6037+11_6037+12delinsCT
|
|
|
NM_000138.5(FBN1):c.6037+9G>A
|
|
|
NM_000138.5(FBN1):c.6038-3T>C
|
rs2043117848
|
|
NM_000138.5(FBN1):c.6038A>G (p.Asp2013Gly)
|
|
|
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val)
|
rs869025410
|
|
NM_000138.5(FBN1):c.6038_6040dup (p.Asp2013_Ile2014insAsn)
|
rs1597529929
|
|
NM_000138.5(FBN1):c.6073G>A (p.Ala2025Thr)
|
|
|
NM_000138.5(FBN1):c.6082A>C (p.Thr2028Pro)
|
|
|
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
|
|
|
NM_000138.5(FBN1):c.6130T>G (p.Phe2044Val)
|
rs2043116688
|
|
NM_000138.5(FBN1):c.6140C>T (p.Ser2047Phe)
|
rs1060501046
|
|
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg)
|
rs2043116342
|
|
NM_000138.5(FBN1):c.6162A>G (p.Gln2054=)
|
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
NM_000138.5(FBN1):c.6170G>T (p.Arg2057Leu)
|
|
|
NM_000138.5(FBN1):c.6185A>C (p.Tyr2062Ser)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.6235T>C (p.Ser2079Pro)
|
|
|
NM_000138.5(FBN1):c.623T>A (p.Leu208His)
|
rs2044025908
|
|
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.6277G>C (p.Gly2093Arg)
|
rs1064793117
|
|
NM_000138.5(FBN1):c.6282C>A (p.Asp2094Glu)
|
|
|
NM_000138.5(FBN1):c.6308C>T (p.Pro2103Leu)
|
|
|
NM_000138.5(FBN1):c.6313+20T>C
|
|
|
NM_000138.5(FBN1):c.6313+5G>C
|
rs878853688
|
|
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6320T>G (p.Phe2107Cys)
|
rs1555395230
|
|
NM_000138.5(FBN1):c.6335C>G (p.Pro2112Arg)
|
|
|
NM_000138.5(FBN1):c.6336T>G (p.Pro2112=)
|
rs772876451
|
|
NM_000138.5(FBN1):c.6337T>C (p.Tyr2113His)
|
|
|
NM_000138.5(FBN1):c.6347G>C (p.Gly2116Ala)
|
rs1555395226
|
|
NM_000138.5(FBN1):c.6350T>A (p.Ile2117Asn)
|
rs769196373
|
|
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.6359G>T (p.Gly2120Val)
|
rs1310047239
|
|
NM_000138.5(FBN1):c.6365A>G (p.Asp2122Gly)
|
|
|
NM_000138.5(FBN1):c.6379+3C>G
|
rs2043081154
|
|
NM_000138.5(FBN1):c.6379+5G>A
|
rs1085307875
|
|
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn)
|
rs1555395225
|
|
NM_000138.5(FBN1):c.6379G>C (p.Asp2127His)
|
|
|
NM_000138.5(FBN1):c.6380-83del
|
rs193922222
|
|
NM_000138.5(FBN1):c.6380A>C (p.Asp2127Ala)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6383T>C (p.Met2128Thr)
|
rs2141240519
|
|
NM_000138.5(FBN1):c.6394A>G (p.Lys2132Glu)
|
|
|
NM_000138.5(FBN1):c.6397_6399del (p.Glu2133del)
|
rs1060501037
|
|
NM_000138.5(FBN1):c.6401C>T (p.Pro2134Leu)
|
rs1566896102
|
|
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)
|
rs746167150
|
|
NM_000138.5(FBN1):c.6404A>T (p.Asp2135Val)
|
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6422A>T (p.Gln2141Leu)
|
|
|
NM_000138.5(FBN1):c.6434C>T (p.Thr2145Ile)
|
rs2043078019
|
|
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6460C>T (p.Pro2154Ser)
|
rs2043077718
|
|
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.6497-16_6497-15delinsCA
|
|
|
NM_000138.5(FBN1):c.6497-3C>G
|
rs2141237196
|
|
NM_000138.5(FBN1):c.6497A>G (p.Asp2166Gly)
|
|
|
NM_000138.5(FBN1):c.6500_6501insCTGGTTTCT (p.Thr2167_Asp2168insTrpPheLeu)
|
|
|
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe)
|
rs1413266501
|
|
NM_000138.5(FBN1):c.6514G>A (p.Val2172Ile)
|
rs1243025749
|
|
NM_000138.5(FBN1):c.6514G>T (p.Val2172Phe)
|
|
|
NM_000138.5(FBN1):c.6523C>A (p.Pro2175Thr)
|
rs2043051465
|
|
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu)
|
rs2141237135
|
|
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser)
|
rs2141237126
|
|
NM_000138.5(FBN1):c.6549T>A (p.Asn2183Lys)
|
rs752192006
|
|
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.657C>A (p.His219Gln)
|
|
|
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.6586T>G (p.Phe2196Val)
|
rs2043050574
|
|
NM_000138.5(FBN1):c.658C>T (p.Pro220Ser)
|
|
|
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)
|
rs763165301
|
|
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp)
|
rs2141237031
|
|
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu)
|
rs776823384
|
|
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys)
|
rs2043050244
|
|
NM_000138.5(FBN1):c.6605T>C (p.Met2202Thr)
|
|
|
NM_000138.5(FBN1):c.6616+4C>T
|
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6617A>T (p.Asp2206Val)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6626A>C (p.Glu2209Ala)
|
rs1060501072
|
|
NM_000138.5(FBN1):c.6631G>T (p.Ala2211Ser)
|
rs1407213479
|
|
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala)
|
rs1375370990
|
|
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6655T>G (p.Phe2219Val)
|
rs2043035646
|
|
NM_000138.5(FBN1):c.6659G>C (p.Arg2220Pro)
|
rs780651466
|
|
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6664G>C (p.Val2222Leu)
|
rs1555394920
|
|
NM_000138.5(FBN1):c.6667A>C (p.Asn2223His)
|
rs1555394919
|
|
NM_000138.5(FBN1):c.6676G>A (p.Gly2226Arg)
|
rs2141235108
|
|
NM_000138.5(FBN1):c.6677G>A (p.Gly2226Glu)
|
|
|
NM_000138.5(FBN1):c.6677G>T (p.Gly2226Val)
|
|
|
NM_000138.5(FBN1):c.6678_6680del (p.Ser2227del)
|
rs1555394913
|
|
NM_000138.5(FBN1):c.6679T>C (p.Ser2227Pro)
|
rs1555394915
|
|
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys)
|
rs1555394908
|
|
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.6707A>T (p.Tyr2236Phe)
|
rs368439899
|
|
NM_000138.5(FBN1):c.6721G>C (p.Asp2241His)
|
|
|
NM_000138.5(FBN1):c.6730A>T (p.Met2244Leu)
|
|
|
NM_000138.5(FBN1):c.6739+3G>A
|
|
|
NM_000138.5(FBN1):c.6739+4A>G
|
|
|
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.673C>T (p.Pro225Ser)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.6740-21_6740-18delinsTTTTGTCATTTTTTGTACATTTTTGTCATTTT
|
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly)
|
rs397515838
|
|
NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys)
|
rs1597520789
|
|
NM_000138.5(FBN1):c.6757G>A (p.Glu2253Lys)
|
rs1245476075
|
|
NM_000138.5(FBN1):c.6778G>A (p.Glu2260Lys)
|
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6808G>T (p.Gly2270Cys)
|
rs1060501025
|
|
NM_000138.5(FBN1):c.6809G>T (p.Gly2270Val)
|
rs1566894274
|
|
NM_000138.5(FBN1):c.682C>T (p.Pro228Ser)
|
|
|
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu)
|
rs2043017212
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6836G>T (p.Gly2279Val)
|
rs2043017049
|
|
NM_000138.5(FBN1):c.6839A>G (p.Tyr2280Cys)
|
|
|
NM_000138.5(FBN1):c.6854A>G (p.Asp2285Gly)
|
rs1160071679
|
|
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu)
|
rs1455580241
|
|
NM_000138.5(FBN1):c.6859G>A (p.Glu2287Lys)
|
rs551736585
|
|
NM_000138.5(FBN1):c.6862G>A (p.Gly2288Ser)
|
|
|
NM_000138.5(FBN1):c.6871+3A>T
|
rs1555394752
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6872-1_6881dup
|
rs2042999380
|
|
NM_000138.5(FBN1):c.6872-9A>G
|
rs794728259
|
|
NM_000138.5(FBN1):c.6872A>G (p.Asp2291Gly)
|
rs370283154
|
|
NM_000138.5(FBN1):c.6879T>G (p.Asn2293Lys)
|
|
|
NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys)
|
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg)
|
|
|
NM_000138.5(FBN1):c.6901A>T (p.Ile2301Phe)
|
|
|
NM_000138.5(FBN1):c.6911A>C (p.Asn2304Thr)
|
|
|
NM_000138.5(FBN1):c.6925A>T (p.Asn2309Tyr)
|
rs2141229967
|
|
NM_000138.5(FBN1):c.6938G>T (p.Ser2313Ile)
|
|
|
NM_000138.5(FBN1):c.694C>T (p.Arg232Cys)
|
|
|
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=)
|
rs1290478839
|
|
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly)
|
rs794728261
|
|
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val)
|
rs794728261
|
|
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser)
|
rs397515841
|
|
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys)
|
rs397515841
|
|
NM_000138.5(FBN1):c.6997+17_6997+18delinsGA
|
|
|
NM_000138.5(FBN1):c.6997+5G>A
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6997+5G>T
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6997+5dup
|
|
|
NM_000138.5(FBN1):c.6998-13A>G
|
rs2042989627
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
NM_000138.5(FBN1):c.69T>C (p.His23=)
|
rs2140787712
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln)
|
rs761248433
|
|
NM_000138.5(FBN1):c.7010G>C (p.Gly2337Ala)
|
|
|
NM_000138.5(FBN1):c.7013A>G (p.Tyr2338Cys)
|
rs2141229151
|
|
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)
|
rs1555401670
|
|
NM_000138.5(FBN1):c.7022_7039del (p.Thr2341_Asn2346del)
|
|
|
NM_000138.5(FBN1):c.7027G>T (p.Val2343Leu)
|
|
|
NM_000138.5(FBN1):c.7039A>T (p.Met2347Leu)
|
rs1284375434
|
|
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.7078A>C (p.Lys2360Gln)
|
|
|
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp)
|
rs397515844
|
|
NM_000138.5(FBN1):c.7096G>A (p.Asp2366Asn)
|
rs1259235311
|
|
NM_000138.5(FBN1):c.7109G>A (p.Gly2370Asp)
|
|
|
NM_000138.5(FBN1):c.7114G>A (p.Gly2372Ser)
|
rs2042988137
|
|
NM_000138.5(FBN1):c.7117C>T (p.Pro2373Ser)
|
|
|
NM_000138.5(FBN1):c.7121A>G (p.His2374Arg)
|
rs1060501018
|
|
NM_000138.5(FBN1):c.7146G>T (p.Gly2382=)
|
|
|
NM_000138.5(FBN1):c.7154C>T (p.Ala2385Val)
|
|
|
NM_000138.5(FBN1):c.7162A>G (p.Lys2388Glu)
|
rs1566893398
|
|
NM_000138.5(FBN1):c.7172C>G (p.Pro2391Arg)
|
|
|
NM_000138.5(FBN1):c.7178G>C (p.Gly2393Ala)
|
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile)
|
rs1169351376
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.71G>C (p.Gly24Ala)
|
rs768993489
|
|
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.7235T>C (p.Val2412Ala)
|
rs1060501061
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7244A>T (p.Asn2415Ile)
|
rs1566892910
|
|
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)
|
rs794728269
|
|
NM_000138.5(FBN1):c.7247G>T (p.Gly2416Val)
|
rs1555394442
|
|
NM_000138.5(FBN1):c.7258A>C (p.Asn2420His)
|
|
|
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser)
|
rs2141226971
|
|
NM_000138.5(FBN1):c.7276C>T (p.His2426Tyr)
|
rs372369490
|
|
NM_000138.5(FBN1):c.7276_7278del (p.His2426del)
|
rs2141226930
|
|
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala)
|
rs1266993955
|
|
NM_000138.5(FBN1):c.7328T>C (p.Val2443Ala)
|
rs2141226842
|
|
NM_000138.5(FBN1):c.7330+3A>G
|
rs2042974020
|
|
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr)
|
rs1555394434
|
|
NM_000138.5(FBN1):c.7347_7358del (p.Asn2449_Pro2452del)
|
rs2042971876
|
|
NM_000138.5(FBN1):c.734A>C (p.Gln245Pro)
|
|
|
NM_000138.5(FBN1):c.737-9A>G
|
rs1060501020
|
|
NM_000138.5(FBN1):c.7372A>G (p.Ile2458Val)
|
|
|
NM_000138.5(FBN1):c.7384A>C (p.Thr2462Pro)
|
rs371278936
|
|
NM_000138.5(FBN1):c.7384A>G (p.Thr2462Ala)
|
rs371278936
|
|
NM_000138.5(FBN1):c.7384A>T (p.Thr2462Ser)
|
|
|
NM_000138.5(FBN1):c.7394G>T (p.Ser2465Ile)
|
rs2141226387
|
|
NM_000138.5(FBN1):c.7397A>G (p.Tyr2466Cys)
|
rs1555394403
|
|
NM_000138.5(FBN1):c.73G>T (p.Ala25Ser)
|
|
|
NM_000138.5(FBN1):c.7400A>C (p.Gln2467Pro)
|
rs770839761
|
|
NM_000138.5(FBN1):c.7415A>G (p.Lys2472Arg)
|
|
|
NM_000138.5(FBN1):c.7440_7442del (p.Arg2481del)
|
|
|
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly)
|
|
|
NM_000138.5(FBN1):c.7463A>C (p.Glu2488Ala)
|
|
|
NM_000138.5(FBN1):c.7490A>C (p.Gln2497Pro)
|
rs2042947403
|
|
NM_000138.5(FBN1):c.7492T>G (p.Phe2498Val)
|
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7510A>T (p.Ile2504Phe)
|
rs1223532755
|
|
NM_000138.5(FBN1):c.7520T>G (p.Phe2507Cys)
|
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile)
|
rs2042946390
|
|
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln)
|
rs2042946233
|
|
NM_000138.5(FBN1):c.7570+3G>A
|
rs771716341
|
|
NM_000138.5(FBN1):c.7570G>C (p.Asp2524His)
|
rs2042945976
|
|
NM_000138.5(FBN1):c.7571-13C>G
|
|
|
NM_000138.5(FBN1):c.7599T>A (p.Asn2533Lys)
|
|
|
NM_000138.5(FBN1):c.760C>G (p.Pro254Ala)
|
rs2141353825
|
|
NM_000138.5(FBN1):c.7610C>G (p.Ser2537Cys)
|
rs2141221930
|
|
NM_000138.5(FBN1):c.7627A>C (p.Asn2543His)
|
|
|
NM_000138.5(FBN1):c.7633C>T (p.Pro2545Ser)
|
rs2141221883
|
|
NM_000138.5(FBN1):c.763G>T (p.Gly255Trp)
|
|
|
NM_000138.5(FBN1):c.7641C>G (p.Ser2547Arg)
|
rs1555394198
|
|
NM_000138.5(FBN1):c.7642T>C (p.Phe2548Leu)
|
rs2141221864
|
|
NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr)
|
|
|
NM_000138.5(FBN1):c.7688C>G (p.Ser2563Cys)
|
rs2042941564
|
|
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala)
|
rs2042941498
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
NM_000138.5(FBN1):c.7700-10T>G
|
|
|
NM_000138.5(FBN1):c.7706A>C (p.Asp2569Ala)
|
|
|
NM_000138.5(FBN1):c.7706A>G (p.Asp2569Gly)
|
rs2141220859
|
|
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys)
|
rs2141220835
|
|
NM_000138.5(FBN1):c.7718G>A (p.Gly2573Asp)
|
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7732C>A (p.Gln2578Lys)
|
|
|
NM_000138.5(FBN1):c.7735_7746dup (p.His2579_Gln2582dup)
|
rs2141220752
|
|
NM_000138.5(FBN1):c.7736A>C (p.His2579Pro)
|
|
|
NM_000138.5(FBN1):c.7737T>G (p.His2579Gln)
|
|
|
NM_000138.5(FBN1):c.7739G>A (p.Gly2580Asp)
|
|
|
NM_000138.5(FBN1):c.7748A>G (p.Asn2583Ser)
|
rs2042934435
|
|
NM_000138.5(FBN1):c.7752C>G (p.Ile2584Met)
|
rs2042934389
|
|
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys)
|
rs1566891436
|
|
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg)
|
rs2043995400
|
|
NM_000138.5(FBN1):c.7799A>G (p.Tyr2600Cys)
|
rs2141220639
|
|
NM_000138.5(FBN1):c.7806G>C (p.Trp2602Cys)
|
|
|
NM_000138.5(FBN1):c.7812G>C (p.Gln2604His)
|
rs2141220609
|
|
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.7819+5G>T
|
|
|
NM_000138.5(FBN1):c.7819G>T (p.Asp2607Tyr)
|
rs1597512576
|
|
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.7834C>T (p.Leu2612Phe)
|
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7843C>G (p.His2615Asp)
|
rs2042899271
|
|
NM_000138.5(FBN1):c.7856G>A (p.Gly2619Glu)
|
rs113926846
|
|
NM_000138.5(FBN1):c.7868A>T (p.His2623Leu)
|
|
|
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)
|
rs113935744
|
|
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)
|
rs2042898824
|
|
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.7895T>C (p.Met2632Thr)
|
|
|
NM_000138.5(FBN1):c.7914G>T (p.Gln2638His)
|
rs1597509725
|
|
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser)
|
rs982468949
|
|
NM_000138.5(FBN1):c.796_810del (p.Val266_Glu270del)
|
|
|
NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala)
|
rs1555393851
|
|
NM_000138.5(FBN1):c.7979G>A (p.Ser2660Asn)
|
rs2141214726
|
|
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg)
|
rs1060501030
|
|
NM_000138.5(FBN1):c.7991C>G (p.Ser2664Cys)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7991C>T (p.Ser2664Phe)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg)
|
rs2141353715
|
|
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)
|
rs1057521100
|
|
NM_000138.5(FBN1):c.8009A>T (p.Tyr2670Phe)
|
rs794728339
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.802T>C (p.Ser268Pro)
|
|
|
NM_000138.5(FBN1):c.8041A>G (p.Ile2681Val)
|
|
|
NM_000138.5(FBN1):c.8051+3_8051+9del
|
rs2141214499
|
|
NM_000138.5(FBN1):c.8052-6_8052-3del
|
rs2141211838
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)
|
rs1464168530
|
|
NM_000138.5(FBN1):c.8069T>A (p.Met2690Lys)
|
rs747476726
|
|
NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr)
|
rs747476726
|
|
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)
|
rs951026080
|
|
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)
|
rs371375126
|
|
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln)
|
rs2043994842
|
|
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu)
|
rs886038782
|
|
NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile)
|
rs753925682
|
|
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val)
|
rs794728284
|
|
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.8128C>T (p.Leu2710Phe)
|
rs1342786403
|
|
NM_000138.5(FBN1):c.8129T>C (p.Leu2710Pro)
|
rs1297376845
|
|
NM_000138.5(FBN1):c.8137G>A (p.Glu2713Lys)
|
rs2141211697
|
|
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)
|
rs1555393658
|
|
NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr)
|
rs766170041
|
|
NM_000138.5(FBN1):c.8144G>A (p.Cys2715Tyr)
|
rs1597507716
|
|
NM_000138.5(FBN1):c.8144G>C (p.Cys2715Ser)
|
rs1597507716
|
|
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)
|
rs1371152380
|
|
NM_000138.5(FBN1):c.8195G>A (p.Ser2732Asn)
|
rs2042872305
|
|
NM_000138.5(FBN1):c.8213C>A (p.Ala2738Asp)
|
rs2042871947
|
|
NM_000138.5(FBN1):c.821C>A (p.Pro274His)
|
rs1085307537
|
|
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met)
|
rs150065311
|
|
NM_000138.5(FBN1):c.8226+5G>T
|
rs193922243
|
|
NM_000138.5(FBN1):c.8226G>T (p.Glu2742Asp)
|
rs1060501045
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8233T>G (p.Ser2745Ala)
|
|
|
NM_000138.5(FBN1):c.823G>A (p.Ala275Thr)
|
rs1345051744
|
|
NM_000138.5(FBN1):c.8249A>G (p.Asn2750Ser)
|
rs763816801
|
|
NM_000138.5(FBN1):c.8267G>C (p.Trp2756Ser)
|
rs397515861
|
|
NM_000138.5(FBN1):c.8270A>G (p.Asp2757Gly)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8285C>A (p.Ala2762Asp)
|
|
|
NM_000138.5(FBN1):c.830A>T (p.His277Leu)
|
|
|
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.8336A>C (p.Glu2779Ala)
|
|
|
NM_000138.5(FBN1):c.8347G>C (p.Ala2783Pro)
|
rs2141209966
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_000138.5(FBN1):c.8359C>G (p.Leu2787Val)
|
|
|
NM_000138.5(FBN1):c.835C>G (p.Leu279Val)
|
|
|
NM_000138.5(FBN1):c.8369A>G (p.His2790Arg)
|
rs1271078955
|
|
NM_000138.5(FBN1):c.8371A>C (p.Asn2791His)
|
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.8384T>A (p.Ile2795Asn)
|
rs2042859661
|
|
NM_000138.5(FBN1):c.8393G>A (p.Gly2798Glu)
|
rs1060501049
|
|
NM_000138.5(FBN1):c.8396del (p.Asn2799fs)
|
rs1555393540
|
|
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)
|
rs868087455
|
|
NM_000138.5(FBN1):c.8402A>G (p.Asp2801Gly)
|
|
|
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp)
|
rs770484928
|
|
NM_000138.5(FBN1):c.8409C>G (p.Phe2803Leu)
|
|
|
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)
|
rs1555393538
|
|
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn)
|
rs2141209854
|
|
NM_000138.5(FBN1):c.8423A>G (p.Gln2808Arg)
|
|
|
NM_000138.5(FBN1):c.8428del (p.Glu2810fs)
|
rs1555393535
|
|
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu)
|
rs2042858918
|
|
NM_000138.5(FBN1):c.8435T>C (p.Ile2812Thr)
|
rs2042858844
|
|
NM_000138.5(FBN1):c.8437A>T (p.Ser2813Cys)
|
rs2042858812
|
|
NM_000138.5(FBN1):c.8438G>A (p.Ser2813Asn)
|
|
|
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp)
|
rs772218768
|
|
NM_000138.5(FBN1):c.8444T>C (p.Leu2815Pro)
|
|
|
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)
|
rs1555393532
|
|
NM_000138.5(FBN1):c.8471C>A (p.Ala2824Asp)
|
rs1060501084
|
|
NM_000138.5(FBN1):c.8474G>T (p.Gly2825Val)
|
|
|
NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser)
|
rs748384979
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
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.8497A>G (p.Ser2833Gly)
|
|
|
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe)
|
|
|
NM_000138.5(FBN1):c.8507T>A (p.Leu2836His)
|
rs2141209638
|
|
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)
|
rs1555393514
|
|
NM_000138.5(FBN1):c.8521G>A (p.Glu2841Lys)
|
rs587782948
|
|
NM_000138.5(FBN1):c.8522A>T (p.Glu2841Val)
|
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
NM_000138.5(FBN1):c.8536G>A (p.Glu2846Lys)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8536G>C (p.Glu2846Gln)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg)
|
rs765839151
|
|
NM_000138.5(FBN1):c.8544A>C (p.Lys2848Asn)
|
rs2042856933
|
|
NM_000138.5(FBN1):c.8555A>G (p.Asp2852Gly)
|
rs773653099
|
|
NM_000138.5(FBN1):c.8557T>C (p.Tyr2853His)
|
|
|
NM_000138.5(FBN1):c.8562del (p.Ser2855fs)
|
|
|
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)
|
rs368599541
|
|
NM_000138.5(FBN1):c.8592G>A (p.Met2864Ile)
|
|
|
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn)
|
rs1597506544
|
|
NM_000138.5(FBN1):c.859G>A (p.Glu287Lys)
|
|
|
NM_000138.5(FBN1):c.860A>G (p.Glu287Gly)
|
rs1555401454
|
|
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
|
|
|
NM_000138.5(FBN1):c.865A>G (p.Ile289Val)
|
|
|
NM_000138.5(FBN1):c.868G>T (p.Asp290Tyr)
|
|
|
NM_000138.5(FBN1):c.872A>T (p.Glu291Val)
|
|
|
NM_000138.5(FBN1):c.87G>T (p.Leu29Phe)
|
|
|
NM_000138.5(FBN1):c.890G>A (p.Gly297Glu)
|
|
|
NM_000138.5(FBN1):c.8G>A (p.Arg3Gln)
|
rs149929989
|
|
NM_000138.5(FBN1):c.902G>C (p.Gly301Ala)
|
rs142888621
|
|
NM_000138.5(FBN1):c.905G>A (p.Gly302Asp)
|
|
|
NM_000138.5(FBN1):c.905G>T (p.Gly302Val)
|
rs779866501
|
|
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys)
|
rs1566919661
|
|
NM_000138.5(FBN1):c.928A>C (p.Ser310Arg)
|
|
|
NM_000138.5(FBN1):c.929G>C (p.Ser310Thr)
|
|
|
NM_000138.5(FBN1):c.939C>G (p.Cys313Trp)
|
rs1555401007
|
|
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr)
|
rs756687172
|
|
NM_000138.5(FBN1):c.947C>A (p.Pro316His)
|
|
|
NM_000138.5(FBN1):c.962C>T (p.Thr321Ile)
|
rs2043911873
|
|
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly)
|
rs1597587453
|
|
NM_000138.5(FBN1):c.98A>G (p.Asn33Ser)
|
rs2140787661
|
|
NM_000138.5(FBN1):c.991G>A (p.Val331Ile)
|
|
|
NM_000138.5(FBN1):c.992T>A (p.Val331Asp)
|
|
|
NM_000138.5(FBN1):c.995G>T (p.Arg332Leu)
|
rs748929044
|
|
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu)
|
rs863223502
|
|
NM_000428.3(LTBP2):c.4720+7G>A
|
rs137854885
|
|
NM_001032283.3(TMPO):c.117G>C (p.Gln39His)
|
rs1285673694
|
|
NM_001032283.3(TMPO):c.137C>G (p.Thr46Arg)
|
rs776416936
|
|
NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)
|
|
|
NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn)
|
|
|
NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser)
|
|
|
NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile)
|
|
|
NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)
|
|
|
NM_001032283.3(TMPO):c.185C>T (p.Pro62Leu)
|
rs746863579
|
|
NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)
|
|
|
NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)
|
|
|
NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe)
|
|
|
NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe)
|
|
|
NM_001032283.3(TMPO):c.251C>T (p.Ala84Val)
|
|
|
NM_001032283.3(TMPO):c.256C>G (p.Arg86Gly)
|
rs1875778307
|
|
NM_001032283.3(TMPO):c.272T>C (p.Val91Ala)
|
|
|
NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser)
|
|
|
NM_001032283.3(TMPO):c.278G>A (p.Arg93Lys)
|
rs1555201635
|
|
NM_001032283.3(TMPO):c.279+4A>C
|
rs1875782829
|
|
NM_001032283.3(TMPO):c.279G>A (p.Arg93=)
|
rs759987514
|
|
NM_001032283.3(TMPO):c.280-11T>G
|
|
|
NM_001032283.3(TMPO):c.284C>T (p.Ala95Val)
|
|
|
NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile)
|
|
|
NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr)
|
|
|
NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu)
|
|
|
NM_001032283.3(TMPO):c.365A>T (p.Asp122Val)
|
rs904567500
|
|
NM_001032283.3(TMPO):c.373G>A (p.Val125Met)
|
rs1325674217
|
|
NM_001032283.3(TMPO):c.380A>G (p.Tyr127Cys)
|
rs1259294108
|
|
NM_001032283.3(TMPO):c.383G>A (p.Gly128Glu)
|
rs886049910
|
|
NM_001032283.3(TMPO):c.386T>G (p.Val129Gly)
|
|
|
NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser)
|
|
|
NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu)
|
|
|
NM_001032283.3(TMPO):c.400A>T (p.Ile134Phe)
|
rs745442874
|
|
NM_001032283.3(TMPO):c.443A>G (p.Lys148Arg)
|
rs2121195483
|
|
NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro)
|
|
|
NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del)
|
|
|
NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro)
|
rs770948908
|
|
NM_001032283.3(TMPO):c.478_480del (p.Thr160del)
|
|
|
NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile)
|
|
|
NM_001032283.3(TMPO):c.482C>A (p.Pro161His)
|
|
|
NM_001032283.3(TMPO):c.482C>T (p.Pro161Leu)
|
rs1877210566
|
|
NM_001032283.3(TMPO):c.485T>A (p.Leu162Gln)
|
|
|
NM_001032283.3(TMPO):c.485T>G (p.Leu162Arg)
|
rs2121195897
|
|
NM_001032283.3(TMPO):c.493A>G (p.Ile165Val)
|
|
|
NM_001032283.3(TMPO):c.503CAG[1] (p.Ala169del)
|
|
|
NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly)
|
|
|
NM_001032283.3(TMPO):c.52A>G (p.Ser18Gly)
|
rs2121093002
|
|
NM_001032283.3(TMPO):c.565+1005A>G
|
|
|
NM_001032283.3(TMPO):c.565+1017A>G
|
|
|
NM_001032283.3(TMPO):c.565+1018C>G
|
|
|
NM_001032283.3(TMPO):c.565+1026A>G
|
rs1447801243
|
|
NM_001032283.3(TMPO):c.565+1033C>T
|
rs747066370
|
|
NM_001032283.3(TMPO):c.565+1048G>A
|
rs1877293542
|
|
NM_001032283.3(TMPO):c.565+1048G>C
|
|
|
NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT
|
|
|
NM_001032283.3(TMPO):c.565+1069G>A
|
|
|
NM_001032283.3(TMPO):c.565+1108G>A
|
|
|
NM_001032283.3(TMPO):c.565+1114C>T
|
rs754944353
|
|
NM_001032283.3(TMPO):c.565+1120G>C
|
|
|
NM_001032283.3(TMPO):c.565+1128G>T
|
|
|
NM_001032283.3(TMPO):c.565+1161A>G
|
rs2121202826
|
|
NM_001032283.3(TMPO):c.565+1168A>T
|
rs370585407
|
|
NM_001032283.3(TMPO):c.565+1179G>T
|
|
|
NM_001032283.3(TMPO):c.565+1257T>C
|
rs1877309895
|
|
NM_001032283.3(TMPO):c.565+1260A>C
|
rs779869644
|
|
NM_001032283.3(TMPO):c.565+1272del
|
|
|
NM_001032283.3(TMPO):c.565+1273A>G
|
rs146158243
|
|
NM_001032283.3(TMPO):c.565+1279G>A
|
|
|
NM_001032283.3(TMPO):c.565+1302T>C
|
|
|
NM_001032283.3(TMPO):c.565+1312C>G
|
|
|
NM_001032283.3(TMPO):c.565+1320A>C
|
rs747613142
|
|
NM_001032283.3(TMPO):c.565+1361T>G
|
rs185083543
|
|
NM_001032283.3(TMPO):c.565+1362_565+1363insTCA
|
rs755623404
|
|
NM_001032283.3(TMPO):c.565+1372C>T
|
|
|
NM_001032283.3(TMPO):c.565+1374A>C
|
rs760685984
|
|
NM_001032283.3(TMPO):c.565+1378G>A
|
|
|
NM_001032283.3(TMPO):c.565+1420A>G
|
|
|
NM_001032283.3(TMPO):c.565+1439A>C
|
rs1877327751
|
|
NM_001032283.3(TMPO):c.565+1467C>G
|
rs200124801
|
|
NM_001032283.3(TMPO):c.565+1467C>T
|
rs200124801
|
|
NM_001032283.3(TMPO):c.565+1474C>T
|
|
|
NM_001032283.3(TMPO):c.565+1474CT[2]
|
rs1359210478
|
|
NM_001032283.3(TMPO):c.565+1508_565+1509del
|
|
|
NM_001032283.3(TMPO):c.565+1536_565+1543del
|
|
|
NM_001032283.3(TMPO):c.565+1548A>G
|
rs779658294
|
|
NM_001032283.3(TMPO):c.565+1575G>A
|
rs1060502980
|
|
NM_001032283.3(TMPO):c.565+1584G>A
|
rs147002330
|
|
NM_001032283.3(TMPO):c.565+1584G>C
|
rs147002330
|
|
NM_001032283.3(TMPO):c.565+1584G>T
|
|
|
NM_001032283.3(TMPO):c.565+1587G>A
|
|
|
NM_001032283.3(TMPO):c.565+1590G>A
|
|
|
NM_001032283.3(TMPO):c.565+1595T>G
|
|
|
NM_001032283.3(TMPO):c.565+1609C>G
|
|
|
NM_001032283.3(TMPO):c.565+1611A>C
|
|
|
NM_001032283.3(TMPO):c.565+1633T>C
|
|
|
NM_001032283.3(TMPO):c.565+1643A>G
|
|
|
NM_001032283.3(TMPO):c.565+1692C>A
|
rs879040481
|
|
NM_001032283.3(TMPO):c.565+1692C>T
|
rs879040481
|
|
NM_001032283.3(TMPO):c.565+1708C>T
|
|
|
NM_001032283.3(TMPO):c.565+1724G>C
|
|
|
NM_001032283.3(TMPO):c.565+1725T>A
|
|
|
NM_001032283.3(TMPO):c.565+1774C>G
|
rs762576951
|
|
NM_001032283.3(TMPO):c.565+1782G>A
|
rs763388598
|
|
NM_001032283.3(TMPO):c.565+1790G>A
|
|
|
NM_001032283.3(TMPO):c.565+1795C>A
|
rs1877361719
|
|
NM_001032283.3(TMPO):c.565+1807C>G
|
|
|
NM_001032283.3(TMPO):c.565+1813TC[2]
|
rs1877364478
|
|
NM_001032283.3(TMPO):c.565+1872A>G
|
rs1060502979
|
|
NM_001032283.3(TMPO):c.565+1873T>C
|
rs1238424266
|
|
NM_001032283.3(TMPO):c.565+1878G>A
|
rs1877372287
|
|
NM_001032283.3(TMPO):c.565+1905G>T
|
rs2121207714
|
|
NM_001032283.3(TMPO):c.565+1928del
|
rs1442448525
|
|
NM_001032283.3(TMPO):c.565+1932G>A
|
|
|
NM_001032283.3(TMPO):c.565+1935T>C
|
|
|
NM_001032283.3(TMPO):c.565+1983del
|
|
|
NM_001032283.3(TMPO):c.565+1995G>A
|
|
|
NM_001032283.3(TMPO):c.565+2002C>T
|
rs2121208214
|
|
NM_001032283.3(TMPO):c.565+2014C>G
|
rs2121208283
|
|
NM_001032283.3(TMPO):c.565+2019C>A
|
rs764610443
|
|
NM_001032283.3(TMPO):c.565+2022A>G
|
|
|
NM_001032283.3(TMPO):c.565+2026T>C
|
rs1555203926
|
|
NM_001032283.3(TMPO):c.565+2029A>G
|
|
|
NM_001032283.3(TMPO):c.565+2044G>T
|
|
|
NM_001032283.3(TMPO):c.565+2058G>T
|
|
|
NM_001032283.3(TMPO):c.565+2067C>G
|
rs745484180
|
|
NM_001032283.3(TMPO):c.565+2085G>A
|
|
|
NM_001032283.3(TMPO):c.565+2101G>A
|
rs774064196
|
|
NM_001032283.3(TMPO):c.565+2101G>T
|
|
|
NM_001032283.3(TMPO):c.565+2102C>A
|
rs764177808
|
|
NM_001032283.3(TMPO):c.565+2128G>A
|
|
|
NM_001032283.3(TMPO):c.565+2169A>G
|
|
|
NM_001032283.3(TMPO):c.565+2170C>G
|
|
|
NM_001032283.3(TMPO):c.565+2170C>T
|
|
|
NM_001032283.3(TMPO):c.565+2172C>T
|
rs1565812072
|
|
NM_001032283.3(TMPO):c.565+2173A>T
|
|
|
NM_001032283.3(TMPO):c.565+2175A>G
|
rs1877399544
|
|
NM_001032283.3(TMPO):c.565+2175_565+2176del
|
|
|
NM_001032283.3(TMPO):c.565+2179C>T
|
|
|
NM_001032283.3(TMPO):c.565+2197T>C
|
rs1877401842
|
|
NM_001032283.3(TMPO):c.565+2220G>A
|
|
|
NM_001032283.3(TMPO):c.565+2229C>G
|
|
|
NM_001032283.3(TMPO):c.565+2247C>G
|
rs369379490
|
|
NM_001032283.3(TMPO):c.565+2251C>T
|
|
|
NM_001032283.3(TMPO):c.565+2280A>G
|
rs1877412049
|
|
NM_001032283.3(TMPO):c.565+2281C>T
|
rs1877412433
|
|
NM_001032283.3(TMPO):c.565+2284_565+2285del
|
rs767209319
|
|
NM_001032283.3(TMPO):c.565+2292G>A
|
|
|
NM_001032283.3(TMPO):c.565+2299A>G
|
rs766232053
|
|
NM_001032283.3(TMPO):c.565+2340C>G
|
rs1877418406
|
|
NM_001032283.3(TMPO):c.565+2340C>T
|
|
|
NM_001032283.3(TMPO):c.565+2346A>G
|
rs1565812255
|
|
NM_001032283.3(TMPO):c.565+2353A>G
|
rs1335078305
|
|
NM_001032283.3(TMPO):c.565+2362T>C
|
|
|
NM_001032283.3(TMPO):c.565+2367C>G
|
|
|
NM_001032283.3(TMPO):c.565+2369_565+2371del
|
rs755715445
|
|
NM_001032283.3(TMPO):c.565+2381G>C
|
rs1877422962
|
|
NM_001032283.3(TMPO):c.565+2397A>T
|
|
|
NM_001032283.3(TMPO):c.565+2412A>T
|
|
|
NM_001032283.3(TMPO):c.565+2425C>T
|
rs1268085556
|
|
NM_001032283.3(TMPO):c.565+2460G>A
|
|
|
NM_001032283.3(TMPO):c.565+2461_565+2463del
|
rs727503491
|
|
NM_001032283.3(TMPO):c.565+2472A>C
|
rs1877431244
|
|
NM_001032283.3(TMPO):c.565+2474A>C
|
rs2121211551
|
|
NM_001032283.3(TMPO):c.565+2481A>G
|
|
|
NM_001032283.3(TMPO):c.565+995A>C
|
|
|
NM_001032283.3(TMPO):c.565+995_565+998del
|
rs747695132
|
|
NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu)
|
|
|
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys)
|
rs1557176102
|
|
NM_001407129.1(TGFBR2):c.-109C>T
|
rs1697919506
|
|
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
|
|
|
NM_001999.4(FBN2):c.7771A>G (p.Thr2591Ala)
|
rs869025429
|
|
NM_003242.5(TGFBR2):c.-344C>A
|
rs886058298
|
|
NM_003242.6(TGFBR2):c.*1207A>G
|
rs1699738762
|
|
NM_003242.6(TGFBR2):c.*1211A>T
|
rs886058319
|
|
NM_003242.6(TGFBR2):c.*1326G>A
|
rs886058320
|
|
NM_003242.6(TGFBR2):c.*1327C>G
|
rs1699740473
|
|
NM_003242.6(TGFBR2):c.*1715A>G
|
rs559265897
|
|
NM_003242.6(TGFBR2):c.*1842G>T
|
rs886058321
|
|
NM_003242.6(TGFBR2):c.*1859G>T
|
rs886058322
|
|
NM_003242.6(TGFBR2):c.*1860C>A
|
rs886058323
|
|
NM_003242.6(TGFBR2):c.*1887G>T
|
rs886058324
|
|
NM_003242.6(TGFBR2):c.*1966A>G
|
rs1699748594
|
|
NM_003242.6(TGFBR2):c.*226C>A
|
rs886058307
|
|
NM_003242.6(TGFBR2):c.*2332A>C
|
rs886058326
|
|
NM_003242.6(TGFBR2):c.*2335T>A
|
rs886058327
|
|
NM_003242.6(TGFBR2):c.*2437T>A
|
rs886058330
|
|
NM_003242.6(TGFBR2):c.*312AT[11]
|
rs4016180
|
|
NM_003242.6(TGFBR2):c.*330_*331del
|
rs561991238
|
|
NM_003242.6(TGFBR2):c.*33A>G
|
rs886058306
|
|
NM_003242.6(TGFBR2):c.*598G>T
|
rs886058311
|
|
NM_003242.6(TGFBR2):c.*704A>G
|
rs886058312
|
|
NM_003242.6(TGFBR2):c.*713G>T
|
rs886058313
|
|
NM_003242.6(TGFBR2):c.*793G>T
|
rs886058314
|
|
NM_003242.6(TGFBR2):c.*799A>G
|
rs886058315
|
|
NM_003242.6(TGFBR2):c.*859G>A
|
rs548242538
|
|
NM_003242.6(TGFBR2):c.*997T>A
|
rs886058317
|
|
NM_003242.6(TGFBR2):c.-122T>G
|
rs1040386724
|
|
NM_003242.6(TGFBR2):c.-18C>A
|
rs753369354
|
|
NM_003242.6(TGFBR2):c.-195G>A
|
rs925186023
|
|
NM_003242.6(TGFBR2):c.-228C>A
|
rs886058300
|
|
NM_003242.6(TGFBR2):c.-249T>G
|
rs886058299
|
|
NM_003242.6(TGFBR2):c.-26G>A
|
rs752752584
|
|
NM_003242.6(TGFBR2):c.1002G>T (p.Gln334His)
|
rs1699354101
|
|
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro)
|
rs727503473
|
|
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg)
|
rs863223842
|
|
NM_003242.6(TGFBR2):c.1087A>G (p.Ser363Gly)
|
rs2125436087
|
|
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)
|
rs755967723
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1238T>A (p.Leu413Gln)
|
rs1559467328
|
|
NM_003242.6(TGFBR2):c.1254+8A>G
|
rs200630803
|
|
NM_003242.6(TGFBR2):c.1386T>G (p.Asn462Lys)
|
rs2125439408
|
|
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln)
|
rs1553631704
|
|
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)
|
rs1559473531
|
|
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)
|
rs933114782
|
|
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)
|
rs764941621
|
|
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr)
|
rs1559458957
|
|
NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser)
|
rs886058303
|
|
NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly)
|
rs758703490
|
|
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=)
|
rs886058305
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)
|
rs753184709
|
|
NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp)
|
|
|
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu)
|
rs746824357
|
|
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)
|
rs1553630171
|
|
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr)
|
rs1553630181
|
|
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)
|
rs781018006
|
|
NM_004612.4(TGFBR1):c.886A>G (p.Thr296Ala)
|
|
|