ClinVar Miner

List of variants reported as likely pathogenic for Marfan syndrome

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ClinVar version:
Total variants: 582
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HGVS dbSNP
NC_000015.10:g.48427603A>T
NC_000015.10:g.48427684A>C
NC_000015.10:g.48456730A>G
NC_000015.9:g.(?_48762831)_(48762953_?)del
NM_000138.4(FBN1):c.1006T>C (p.Cys336Arg) rs1555400612
NM_000138.4(FBN1):c.1075T>C (p.Cys359Arg) rs1555400604
NM_000138.4(FBN1):c.1076G>A (p.Cys359Tyr) rs1555400603
NM_000138.4(FBN1):c.1098G>T (p.Trp366Cys) rs1555400595
NM_000138.4(FBN1):c.1156_1167del (p.Asn386_Cys389del) rs672601352
NM_000138.4(FBN1):c.1167C>A (p.Cys389Ter) rs746201757
NM_000138.4(FBN1):c.1211del (p.Pro404fs) rs112289537
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.4(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.4(FBN1):c.1391del (p.Arg464fs) rs1555400385
NM_000138.4(FBN1):c.1421G>T (p.Cys474Phe) rs794728166
NM_000138.4(FBN1):c.1426T>C (p.Cys476Arg) rs794728326
NM_000138.4(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.4(FBN1):c.1463G>A (p.Cys488Tyr) rs1555400372
NM_000138.4(FBN1):c.1463G>T (p.Cys488Phe) rs1555400372
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1481G>A (p.Cys494Tyr) rs1057518881
NM_000138.4(FBN1):c.1481G>C (p.Cys494Ser) rs1057518881
NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.4(FBN1):c.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.4(FBN1):c.1559_1560AG[1] (p.Ser521fs) rs397515758
NM_000138.4(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.4(FBN1):c.1589-14A>G rs1566915335
NM_000138.4(FBN1):c.1601G>A (p.Cys534Tyr) rs397515759
NM_000138.4(FBN1):c.1617del (p.Ile540fs) rs1555400066
NM_000138.4(FBN1):c.1622G>T (p.Cys541Phe) rs1555400064
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.1634G>A (p.Arg545His) rs193922179
NM_000138.4(FBN1):c.1636T>C (p.Cys546Arg) rs1555400062
NM_000138.4(FBN1):c.164+1G>T rs794728213
NM_000138.4(FBN1):c.164+2T>C rs727503058
NM_000138.4(FBN1):c.1664G>A (p.Cys555Tyr) rs794728172
NM_000138.4(FBN1):c.1669_1677dup (p.Cys557_Ala559dup) rs193922181
NM_000138.4(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.4(FBN1):c.1678G>A (p.Gly560Ser) rs1064794283
NM_000138.4(FBN1):c.1679G>A (p.Gly560Asp) rs1555400052
NM_000138.4(FBN1):c.1709del (p.Cys570fs) rs193922182
NM_000138.4(FBN1):c.1710T>A (p.Cys570Ter) rs193922183
NM_000138.4(FBN1):c.1714+2del rs876657645
NM_000138.4(FBN1):c.1715A>T (p.Asp572Val) rs1555399976
NM_000138.4(FBN1):c.1726T>G (p.Cys576Gly) rs794728174
NM_000138.4(FBN1):c.1727G>A (p.Cys576Tyr) rs1555399974
NM_000138.4(FBN1):c.1742_1743TG[1] (p.Cys582fs) rs869025420
NM_000138.4(FBN1):c.1754G>A (p.Gly585Glu) rs1060501041
NM_000138.4(FBN1):c.176G>T (p.Cys59Phe) rs1555405673
NM_000138.4(FBN1):c.1775G>A (p.Gly592Asp) rs1555399959
NM_000138.4(FBN1):c.1793G>A (p.Cys598Tyr) rs1555399955
NM_000138.4(FBN1):c.1823del (p.Gly608fs) rs1555399949
NM_000138.4(FBN1):c.1831T>C (p.Cys611Arg) rs1555399944
NM_000138.4(FBN1):c.1837+1G>T rs397515762
NM_000138.4(FBN1):c.1838-1G>A rs1555399840
NM_000138.4(FBN1):c.1843_1845del (p.Asn615del) rs1555399837
NM_000138.4(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.4(FBN1):c.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.4(FBN1):c.1849T>G (p.Cys617Gly) rs1060501017
NM_000138.4(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.4(FBN1):c.1850G>A (p.Cys617Tyr) rs1555399836
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.4(FBN1):c.1888A>T (p.Asn630Tyr) rs1555399821
NM_000138.4(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.4(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.4(FBN1):c.1909T>C (p.Cys637Arg) rs869025404
NM_000138.4(FBN1):c.1916G>A (p.Cys639Tyr) rs878853676
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.4(FBN1):c.1948dupC
NM_000138.4(FBN1):c.1960+2T>C rs1555399802
NM_000138.4(FBN1):c.1962_1963CA[3] (p.Met657fs) rs1555399775
NM_000138.4(FBN1):c.197A>G (p.Tyr66Cys) rs774371494
NM_000138.4(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.4(FBN1):c.1A>G (p.Met1Val) rs730880097
NM_000138.4(FBN1):c.201_203dup (p.Cys68dup) rs1555405664
NM_000138.4(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.4(FBN1):c.2051G>C (p.Cys684Ser) rs1555399763
NM_000138.4(FBN1):c.2051G>T (p.Cys684Phe) rs1555399763
NM_000138.4(FBN1):c.2054G>A (p.Cys685Tyr) rs1555399761
NM_000138.4(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.4(FBN1):c.2057C>A (p.Ala686Asp) rs193922186
NM_000138.4(FBN1):c.2080G>T (p.Glu694Ter) rs1060501024
NM_000138.4(FBN1):c.2113+2T>C rs730880105
NM_000138.4(FBN1):c.2118_2127del (p.Glu706fs) rs1555399482
NM_000138.4(FBN1):c.211T>A (p.Trp71Arg) rs1555405658
NM_000138.4(FBN1):c.211T>C (p.Trp71Arg) rs1555405658
NM_000138.4(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.4(FBN1):c.2167G>T (p.Asp723Tyr) rs1555399477
NM_000138.4(FBN1):c.2176del (p.Glu726fs) rs1555399385
NM_000138.4(FBN1):c.2186del (p.Leu729fs) rs193922187
NM_000138.4(FBN1):c.2216G>A (p.Cys739Tyr) rs1555399378
NM_000138.4(FBN1):c.2217T>G (p.Cys739Trp)
NM_000138.4(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.4(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.4(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.4(FBN1):c.2293+1G>A rs1060501092
NM_000138.4(FBN1):c.2298_2301del (p.Ile766fs) rs1555399281
NM_000138.4(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.4(FBN1):c.2368T>A (p.Cys790Ser) rs1555399270
NM_000138.4(FBN1):c.2369G>C (p.Cys790Ser) rs193922188
NM_000138.4(FBN1):c.238T>G (p.Cys80Gly) rs111764111
NM_000138.4(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.4(FBN1):c.2420-1G>T rs1555399214
NM_000138.4(FBN1):c.2420-2A>G rs1060501052
NM_000138.4(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.4(FBN1):c.2447G>C (p.Cys816Ser) rs397515770
NM_000138.4(FBN1):c.2448C>G (p.Cys816Trp) rs397515771
NM_000138.4(FBN1):c.2467_2468insG (p.Asn823fs) rs1555399204
NM_000138.4(FBN1):c.2474del (p.Pro825fs) rs1555399202
NM_000138.4(FBN1):c.2479T>C (p.Ser827Pro) rs193922189
NM_000138.4(FBN1):c.248-3C>G rs1555405537
NM_000138.4(FBN1):c.2488T>G (p.Cys830Gly) rs397515773
NM_000138.4(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.4(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.4(FBN1):c.2496T>G (p.Cys832Trp) rs397515776
NM_000138.4(FBN1):c.2502_2513del (p.Glu835_Leu838del) rs1555399195
NM_000138.4(FBN1):c.2529del (p.Ile844fs) rs1555399193
NM_000138.4(FBN1):c.2542A>C (p.Thr848Pro) rs193922191
NM_000138.4(FBN1):c.2557T>A (p.Cys853Ser) rs1555399165
NM_000138.4(FBN1):c.2585G>A (p.Cys862Tyr) rs1555399162
NM_000138.4(FBN1):c.2627G>A (p.Cys876Tyr) rs794728193
NM_000138.4(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.265T>C (p.Cys89Arg) rs1555405533
NM_000138.4(FBN1):c.2669G>A (p.Cys890Tyr) rs1555399144
NM_000138.4(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.4(FBN1):c.266G>C (p.Cys89Ser) rs112660651
NM_000138.4(FBN1):c.2677G>C (p.Asp893His) rs193922193
NM_000138.4(FBN1):c.2678-2A>G rs1555399101
NM_000138.4(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.4(FBN1):c.268_269delinsC (p.Gly90fs) rs397515778
NM_000138.4(FBN1):c.2691dup (p.Lys898Ter) rs397515779
NM_000138.4(FBN1):c.2695G>A (p.Gly899Arg) rs869025405
NM_000138.4(FBN1):c.2695G>C (p.Gly899Arg) rs869025405
NM_000138.4(FBN1):c.2696G>A (p.Gly899Glu) rs1555399094
NM_000138.4(FBN1):c.2698_2699insGG (p.Tyr900fs) rs1555399093
NM_000138.4(FBN1):c.2714del (p.Gly905fs) rs1555399089
NM_000138.4(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.4(FBN1):c.2738A>G (p.Glu913Gly) rs1555398995
NM_000138.4(FBN1):c.2740T>A (p.Cys914Ser) rs1555398994
NM_000138.4(FBN1):c.2764_2780del (p.Cys921_Lys922insTer) rs1555398988
NM_000138.4(FBN1):c.2808_2810del (p.Gln936_Cys937delinsHis) rs1555398981
NM_000138.4(FBN1):c.281G>T (p.Cys94Phe) rs730880098
NM_000138.4(FBN1):c.2833del (p.Ala945fs) rs397515781
NM_000138.4(FBN1):c.2849G>A (p.Cys950Tyr) rs1555398974
NM_000138.4(FBN1):c.2849G>C (p.Cys950Ser)
NM_000138.4(FBN1):c.2855-1G>C rs112202622
NM_000138.4(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.4(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.4(FBN1):c.2884_2890del (p.Tyr962fs) rs1555398833
NM_000138.4(FBN1):c.2913del (p.Ile971fs) rs1555398826
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) rs397514558
NM_000138.4(FBN1):c.2942G>A (p.Cys981Tyr) rs727505110
NM_000138.4(FBN1):c.2942G>C (p.Cys981Ser) rs727505110
NM_000138.4(FBN1):c.2948_2970del (p.Cys982_Ser983insTer) rs1555398811
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.2988T>A (p.Cys996Ter) rs1555398803
NM_000138.4(FBN1):c.299G>A (p.Cys100Tyr) rs397515782
NM_000138.4(FBN1):c.299G>T (p.Cys100Phe) rs397515782
NM_000138.4(FBN1):c.2T>C (p.Met1Thr) rs886041536
NM_000138.4(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.4(FBN1):c.3022T>C (p.Cys1008Arg) rs1555398793
NM_000138.4(FBN1):c.304T>C (p.Cys102Arg) rs1566937712
NM_000138.4(FBN1):c.305G>C (p.Cys102Ser) rs794728292
NM_000138.4(FBN1):c.3131G>A (p.Cys1044Tyr) rs730880100
NM_000138.4(FBN1):c.3140_3141del (p.Thr1047fs) rs193922197
NM_000138.4(FBN1):c.3144del (p.Ile1048fs) rs1555398672
NM_000138.4(FBN1):c.3149G>T (p.Ser1050Ile) rs987202268
NM_000138.4(FBN1):c.3157T>A (p.Cys1053Ser) rs1555398667
NM_000138.4(FBN1):c.3157T>G (p.Cys1053Gly) rs1555398667
NM_000138.4(FBN1):c.3165T>G (p.Cys1055Trp) rs1060501040
NM_000138.4(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.4(FBN1):c.3203G>A (p.Cys1068Tyr) rs1555398659
NM_000138.4(FBN1):c.3209A>G (p.Asp1070Gly) rs1555398648
NM_000138.4(FBN1):c.320_321del (p.Ile107fs) rs730880108
NM_000138.4(FBN1):c.3214G>C (p.Asp1072His) rs778867355
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.4(FBN1):c.3268C>T (p.Pro1090Ser) rs1555398633
NM_000138.4(FBN1):c.3290G>A (p.Cys1097Tyr) rs1555398627
NM_000138.4(FBN1):c.3299G>C (p.Gly1100Ala) rs112547596
NM_000138.4(FBN1):c.3299G>T (p.Gly1100Val) rs112547596
NM_000138.4(FBN1):c.32_42delTGGGATTTACC (p.Leu11Argfs) rs397515785
NM_000138.4(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.4(FBN1):c.3320_3323dup (p.Met1108fs) rs1555398622
NM_000138.4(FBN1):c.3337+1G>A rs397515789
NM_000138.4(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.4(FBN1):c.3346G>A (p.Glu1116Lys) rs1555398582
NM_000138.4(FBN1):c.338C>G (p.Ser113Cys) rs869025403
NM_000138.4(FBN1):c.3392A>G (p.Asn1131Ser) rs397515790
NM_000138.4(FBN1):c.3398_3408del (p.Glu1133fs) rs1555398566
NM_000138.4(FBN1):c.3412T>C (p.Cys1138Arg) rs1131691806
NM_000138.4(FBN1):c.3413G>A
NM_000138.4(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.4(FBN1):c.3419G>A (p.Cys1140Tyr) rs1060501075
NM_000138.4(FBN1):c.3419G>T (p.Cys1140Phe) rs1060501075
NM_000138.4(FBN1):c.3444del (p.Asn1149fs) rs1555398551
NM_000138.4(FBN1):c.3465_3466delinsAAG (p.Asp1155fs) rs1555398527
NM_000138.4(FBN1):c.347-2A>G rs1555405056
NM_000138.4(FBN1):c.3475T>C (p.Cys1159Arg) rs794728205
NM_000138.4(FBN1):c.3478G>T (p.Glu1160Ter) rs193922199
NM_000138.4(FBN1):c.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.4(FBN1):c.3512G>A (p.Cys1171Tyr) rs1555398521
NM_000138.4(FBN1):c.3518A>C (p.Asn1173Thr) rs1555398520
NM_000138.4(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
NM_000138.4(FBN1):c.3557A>G (p.Tyr1186Cys) rs1555398511
NM_000138.4(FBN1):c.3558C>G (p.Tyr1186Ter) rs1555398510
NM_000138.4(FBN1):c.3589G>C (p.Asp1197His) rs397515793
NM_000138.4(FBN1):c.3599A>T (p.Glu1200Val) rs1566908956
NM_000138.4(FBN1):c.3602G>A (p.Cys1201Tyr) rs1555398413
NM_000138.4(FBN1):c.3617G>A (p.Gly1206Asp) rs1555398409
NM_000138.4(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.4(FBN1):c.3632_3634del (p.Phe1211del) rs1555398404
NM_000138.4(FBN1):c.3641A>G (p.Asn1214Ser) rs1555398401
NM_000138.4(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.4(FBN1):c.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.4(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.4(FBN1):c.3706T>C (p.Cys1236Arg) rs1555398380
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.4(FBN1):c.3759del (p.Gln1253fs) rs1555398287
NM_000138.4(FBN1):c.3783del (p.Glu1260_Tyr1261insTer) rs1555398282
NM_000138.4(FBN1):c.3839A>T (p.Asp1280Val) rs1555398179
NM_000138.4(FBN1):c.3847G>A (p.Glu1283Lys) rs1555398176
NM_000138.4(FBN1):c.3848A>C (p.Glu1283Ala) rs397515796
NM_000138.4(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.4(FBN1):c.3893dup (p.Asn1298fs) rs869025425
NM_000138.4(FBN1):c.390del (p.Ser130fs) rs1555405045
NM_000138.4(FBN1):c.3915C>A (p.Cys1305Ter) rs1555398152
NM_000138.4(FBN1):c.3932A>G (p.Tyr1311Cys) rs1555398148
NM_000138.4(FBN1):c.3945del (p.Gly1316fs) rs1555398144
NM_000138.4(FBN1):c.3947_3948delinsT (p.Gly1316fs) rs1555398139
NM_000138.4(FBN1):c.3959G>C (p.Cys1320Ser) rs113393517
NM_000138.4(FBN1):c.3959G>T (p.Cys1320Phe) rs113393517
NM_000138.4(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.4(FBN1):c.3965A>G (p.Asp1322Gly) rs1555397744
NM_000138.4(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.4(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.4(FBN1):c.3993del (p.His1331fs) rs1555397736
NM_000138.4(FBN1):c.400T>C (p.Cys134Arg) rs1555405044
NM_000138.4(FBN1):c.4016G>A (p.Cys1339Tyr) rs397515798
NM_000138.4(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.4(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.4(FBN1):c.4032_4033del (p.Ser1345fs) rs1555397723
NM_000138.4(FBN1):c.4048T>A (p.Cys1350Ser) rs397515799
NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.4(FBN1):c.4056del (p.Trp1354fs) rs1555397713
NM_000138.4(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.4(FBN1):c.406T>A (p.Cys136Ser) rs1555405041
NM_000138.4(FBN1):c.406T>C (p.Cys136Arg) rs1555405041
NM_000138.4(FBN1):c.406T>G (p.Cys136Gly) rs1555405041
NM_000138.4(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.4(FBN1):c.4087+5G>A rs1555397692
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.4151T>C (p.Met1384Thr) rs1555397658
NM_000138.4(FBN1):c.4160A>G (p.Tyr1387Cys) rs397515801
NM_000138.4(FBN1):c.4165T>G (p.Cys1389Gly) rs193922203
NM_000138.4(FBN1):c.4192G>A (p.Asp1398Asn)
NM_000138.4(FBN1):c.4197del (p.Phe1400fs) rs869025421
NM_000138.4(FBN1):c.4210+1G>A rs730880106
NM_000138.4(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.4(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.4(FBN1):c.4251_4259del (p.Gly1418_Cys1420del) rs397515803
NM_000138.4(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.4(FBN1):c.4285_4286TG[1] (p.Cys1429_Glu1430delinsTer) rs1555397542
NM_000138.4(FBN1):c.4292G>A (p.Cys1431Tyr) rs1555397540
NM_000138.4(FBN1):c.4293C>G (p.Cys1431Trp) rs112375043
NM_000138.4(FBN1):c.4301_4302insAG (p.Phe1435fs) rs1555397536
NM_000138.4(FBN1):c.4301del (p.Gly1434fs) rs1555397537
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.4(FBN1):c.4337-1G>T rs1555397424
NM_000138.4(FBN1):c.4337-2A>G rs794728216
NM_000138.4(FBN1):c.433T>G (p.Cys145Gly) rs1555405031
NM_000138.4(FBN1):c.4346_4349dup (p.Cys1450Ter) rs1555397420
NM_000138.4(FBN1):c.4348T>A (p.Cys1450Ser) rs1555397421
NM_000138.4(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
NM_000138.4(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.4(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946
NM_000138.4(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.4(FBN1):c.4414T>C (p.Cys1472Arg) rs1555397403
NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.4(FBN1):c.4454G>A (p.Cys1485Tyr) rs111978932
NM_000138.4(FBN1):c.4454G>C (p.Cys1485Ser) rs111978932
NM_000138.4(FBN1):c.4459G>A (p.Asp1487Asn) rs113693945
NM_000138.4(FBN1):c.4460-1G>C rs113082854
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4474del (p.Leu1492fs) rs1555397214
NM_000138.4(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.4(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.4(FBN1):c.4531T>G (p.Cys1511Gly) rs397515811
NM_000138.4(FBN1):c.4532G>A (p.Cys1511Tyr) rs1060501074
NM_000138.4(FBN1):c.4538G>A (p.Cys1513Tyr) rs1555397204
NM_000138.4(FBN1):c.454A>T (p.Ser152Cys) rs193922206
NM_000138.4(FBN1):c.4577_4578GT[1] (p.Cys1526_Val1527insTer) rs1555397197
NM_000138.4(FBN1):c.4583-1G>A rs1555397176
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.4(FBN1):c.4602C>G (p.Cys1534Trp) rs1555397174
NM_000138.4(FBN1):c.4649del (p.Ser1550fs)
NM_000138.4(FBN1):c.4684T>A (p.Cys1562Ser) rs193922207
NM_000138.4(FBN1):c.4766G>T (p.Cys1589Phe) rs1555397024
NM_000138.4(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.4(FBN1):c.479G>A (p.Cys160Tyr) rs1555404810
NM_000138.4(FBN1):c.4815A>G (p.Glu1605=) rs869025408
NM_000138.4(FBN1):c.4816+1G>T rs1555397014
NM_000138.4(FBN1):c.484G>A (p.Ala162Thr) rs193922210
NM_000138.4(FBN1):c.488del (p.Pro163fs) rs1555404806
NM_000138.4(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.4(FBN1):c.4937G>T (p.Cys1646Phe) rs397515814
NM_000138.4(FBN1):c.4942G>A (p.Asp1648Asn) rs397515816
NM_000138.4(FBN1):c.4943-1G>A rs1555396863
NM_000138.4(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.4(FBN1):c.497G>C (p.Cys166Ser) rs397515818
NM_000138.4(FBN1):c.5016dup (p.Ile1673fs) rs869025426
NM_000138.4(FBN1):c.5020T>C (p.Cys1674Arg) rs1555396844
NM_000138.4(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.4(FBN1):c.504C>G (p.Cys168Trp) rs200295020
NM_000138.4(FBN1):c.5061C>A (p.Cys1687Ter) rs1555396838
NM_000138.4(FBN1):c.5065+1G>C rs1296209846
NM_000138.4(FBN1):c.5065+1G>T rs1296209846
NM_000138.4(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.4(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.4(FBN1):c.5156G>A (p.Cys1719Tyr) rs1555396769
NM_000138.4(FBN1):c.5179del (p.Arg1727fs) rs1555396765
NM_000138.4(FBN1):c.5207G>A (p.Cys1736Tyr) rs1060501070
NM_000138.4(FBN1):c.5225-2A>C rs1555396639
NM_000138.4(FBN1):c.5251C>T (p.Gln1751Ter) rs397515820
NM_000138.4(FBN1):c.5280T>A (p.Tyr1760Ter) rs730880103
NM_000138.4(FBN1):c.5296+1G>C rs1555396630
NM_000138.4(FBN1):c.5296+6T>C rs1555396629
NM_000138.4(FBN1):c.529T>C (p.Cys177Arg) rs363853
NM_000138.4(FBN1):c.52del (p.Ala18fs) rs1555407423
NM_000138.4(FBN1):c.531dup (p.Glu178Ter) rs1555404800
NM_000138.4(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.4(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.4(FBN1):c.5369G>C (p.Arg1790Pro) rs1555396428
NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.4(FBN1):c.5416T>C (p.Cys1806Arg) rs1555396419
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5435G>A (p.Cys1812Tyr) rs1555396213
NM_000138.4(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile) rs1555396205
NM_000138.4(FBN1):c.5499dup (p.Asp1834Ter) rs1555396199
NM_000138.4(FBN1):c.5503T>C (p.Cys1835Arg) rs1555396198
NM_000138.4(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.4(FBN1):c.5504G>C (p.Cys1835Ser) rs111929350
NM_000138.4(FBN1):c.5504G>T (p.Cys1835Phe) rs111929350
NM_000138.4(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.4(FBN1):c.5521_5528del (p.Phe1841fs) rs193922212
NM_000138.4(FBN1):c.5539T>C (p.Cys1847Arg) rs1555396186
NM_000138.4(FBN1):c.5545+1G>A rs1260109901
NM_000138.4(FBN1):c.554_556del (p.Pro185_Cys186delinsArg) rs1555401701
NM_000138.4(FBN1):c.5552A>G (p.Asn1851Ser) rs193922214
NM_000138.4(FBN1):c.556T>C (p.Cys186Arg) rs193922215
NM_000138.4(FBN1):c.5588G>A (p.Gly1863Glu) rs113086760
NM_000138.4(FBN1):c.5593T>C (p.Cys1865Arg) rs1555395984
NM_000138.4(FBN1):c.561del (p.Phe187fs) rs397515825
NM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.4(FBN1):c.5671G>C (p.Asp1891His) rs193922216
NM_000138.4(FBN1):c.5672-1G>A rs1555395849
NM_000138.4(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.4(FBN1):c.56C>T (p.Ser19Phe) rs193922218
NM_000138.4(FBN1):c.5721C>G (p.Asn1907Lys) rs397515826
NM_000138.4(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.4(FBN1):c.577del (p.Gln193fs) rs1555401697
NM_000138.4(FBN1):c.5788+1G>T rs1555395819
NM_000138.4(FBN1):c.5788+5G>A rs193922219
NM_000138.4(FBN1):c.5788G>T (p.Asp1930Tyr) rs1555395820
NM_000138.4(FBN1):c.5800T>A (p.Cys1934Ser) rs1555395767
NM_000138.4(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.4(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.4(FBN1):c.5857dup (p.Ser1953fs) rs1555395757
NM_000138.4(FBN1):c.5861T>G (p.Phe1954Cys) rs730880104
NM_000138.4(FBN1):c.5869C>T (p.Gln1957Ter) rs397515829
NM_000138.4(FBN1):c.5888del (p.Glu1963fs) rs727504315
NM_000138.4(FBN1):c.590del (p.Gly197fs) rs1555401695
NM_000138.4(FBN1):c.5911T>G (p.Cys1971Gly) rs1555395745
NM_000138.4(FBN1):c.5912G>A (p.Cys1971Tyr) rs111239111
NM_000138.4(FBN1):c.5918-2A>G rs869025418
NM_000138.4(FBN1):c.5919dup (p.Ile1974fs) rs1555395670
NM_000138.4(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
NM_000138.4(FBN1):c.5950T>C (p.Cys1984Arg) rs1555395659
NM_000138.4(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.4(FBN1):c.5994C>G (p.Cys1998Trp) rs1555395648
NM_000138.4(FBN1):c.6006_6012dup (p.Ser2005fs) rs193922220
NM_000138.4(FBN1):c.6019C>T (p.Gln2007Ter) rs1555395641
NM_000138.4(FBN1):c.6037G>C (p.Asp2013His) rs1555395638
NM_000138.4(FBN1):c.6070dup (p.Cys2024fs)
NM_000138.4(FBN1):c.6080del (p.Gly2027fs) rs1555395480
NM_000138.4(FBN1):c.6087C>G (p.Cys2029Trp) rs1555395475
NM_000138.4(FBN1):c.6113G>A (p.Cys2038Tyr) rs363804
NM_000138.4(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.4(FBN1):c.6164-1G>C rs1060501048
NM_000138.4(FBN1):c.6164-2A>G rs794728244
NM_000138.4(FBN1):c.6181T>C (p.Cys2061Arg) rs1555395267
NM_000138.4(FBN1):c.619dup (p.Thr207fs) rs1555401689
NM_000138.4(FBN1):c.6209G>T (p.Cys2070Phe) rs1060501044
NM_000138.4(FBN1):c.6236C>G (p.Ser2079Cys) rs1555395263
NM_000138.4(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.4(FBN1):c.6251G>A (p.Cys2084Tyr) rs794728245
NM_000138.4(FBN1):c.6254G>C (p.Cys2085Ser) rs1555395261
NM_000138.4(FBN1):c.626G>C (p.Cys209Ser) rs1555401687
NM_000138.4(FBN1):c.6289G>T (p.Glu2097Ter) rs397515831
NM_000138.4(FBN1):c.629G>A (p.Cys210Tyr) rs1085307468
NM_000138.4(FBN1):c.6313+2T>C rs1555395257
NM_000138.4(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.4(FBN1):c.6331T>C (p.Cys2111Arg) rs363815
NM_000138.4(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.4(FBN1):c.6354C>T (p.Ile2118=) rs112989722
NM_000138.4(FBN1):c.6379+1G>A rs397515833
NM_000138.4(FBN1):c.6379G>A (p.Asp2127Asn) rs1555395225
NM_000138.4(FBN1):c.6385G>T (p.Asp2129Tyr) rs193922223
NM_000138.4(FBN1):c.6386A>G (p.Asp2129Gly) rs1566896114
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6414del (p.Lys2138fs) rs1555395205
NM_000138.4(FBN1):c.6424T>A (p.Cys2142Ser) rs1555395203
NM_000138.4(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.4(FBN1):c.6496+1G>A rs1555395188
NM_000138.4(FBN1):c.649T>G (p.Trp217Gly) rs193922224
NM_000138.4(FBN1):c.6509G>A (p.Cys2170Tyr) rs363821
NM_000138.4(FBN1):c.6515_6516delinsG (p.Val2172fs) rs397515834
NM_000138.4(FBN1):c.6524del (p.Pro2175fs) rs1555395013
NM_000138.4(FBN1):c.6553_6556dup (p.Gly2186fs) rs193922225
NM_000138.4(FBN1):c.6569G>T (p.Cys2190Phe) rs1566895262
NM_000138.4(FBN1):c.6576C>G (p.Cys2192Trp) rs369058466
NM_000138.4(FBN1):c.6611G>T (p.Cys2204Phe) rs886039158
NM_000138.4(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
NM_000138.4(FBN1):c.6617-9_6617-8inv rs397515835
NM_000138.4(FBN1):c.6628T>A (p.Cys2210Ser) rs794728253
NM_000138.4(FBN1):c.6630T>G (p.Cys2210Trp) rs397515836
NM_000138.4(FBN1):c.6645del (p.Leu2216fs) rs1555394928
NM_000138.4(FBN1):c.6656T>C (p.Phe2219Ser) rs397515837
NM_000138.4(FBN1):c.6656dup (p.Arg2220fs) rs1555394925
NM_000138.4(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.4(FBN1):c.6688T>C (p.Cys2230Arg) rs1555394906
NM_000138.4(FBN1):c.6694T>C (p.Cys2232Arg) rs869025411
NM_000138.4(FBN1):c.6704del (p.Gly2235fs) rs193922226
NM_000138.4(FBN1):c.6705del (p.Tyr2236fs) rs1555394900
NM_000138.4(FBN1):c.670T>C (p.Cys224Arg) rs1555401676
NM_000138.4(FBN1):c.6739+1G>A rs869025419
NM_000138.4(FBN1):c.6739+2T>A rs730880107
NM_000138.4(FBN1):c.6740-2del rs1555394783
NM_000138.4(FBN1):c.6770_6771dup (p.Cys2258fs) rs1555394779
NM_000138.4(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.4(FBN1):c.6773_6774del (p.Cys2258fs) rs1555394777
NM_000138.4(FBN1):c.6786_6787del (p.Gln2262fs) rs1555394776
NM_000138.4(FBN1):c.6790del (p.Glu2264fs) rs1555394775
NM_000138.4(FBN1):c.6793_6800dup (p.Leu2268fs) rs193922227
NM_000138.4(FBN1):c.6801C>A (p.Asn2267Lys) rs886051245
NM_000138.4(FBN1):c.6820T>C (p.Cys2274Arg) rs869025412
NM_000138.4(FBN1):c.6828T>G (p.Cys2276Trp)
NM_000138.4(FBN1):c.6841C>T (p.Gln2281Ter) rs397515840
NM_000138.4(FBN1):c.6856G>T (p.Gly2286Ter) rs1555394756
NM_000138.4(FBN1):c.6865T>C (p.Cys2289Arg) rs869025413
NM_000138.4(FBN1):c.6881A>C (p.Glu2294Ala) rs1555394647
NM_000138.4(FBN1):c.6883T>G (p.Cys2295Gly) rs1555394644
NM_000138.4(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.4(FBN1):c.6916_6934del (p.Arg2306fs) rs1555394630
NM_000138.4(FBN1):c.6920G>A (p.Cys2307Tyr) rs137854457
NM_000138.4(FBN1):c.6927del (p.Asn2309fs) rs1555394633
NM_000138.4(FBN1):c.6932dup (p.Gly2312fs) rs1555394631
NM_000138.4(FBN1):c.6947G>A (p.Cys2316Tyr) rs1555394629
NM_000138.4(FBN1):c.6947G>T (p.Cys2316Phe) rs1555394629
NM_000138.4(FBN1):c.6949G>T (p.Glu2317Ter) rs1555394628
NM_000138.4(FBN1):c.6952T>C (p.Cys2318Arg) rs111588631
NM_000138.4(FBN1):c.6953G>A (p.Cys2318Tyr) rs1555394626
NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709
NM_000138.4(FBN1):c.6993C>A (p.Cys2331Ter) rs534811966
NM_000138.4(FBN1):c.7014C>G (p.Tyr2338Ter) rs1555394582
NM_000138.4(FBN1):c.7016G>A (p.Cys2339Tyr) rs1555394580
NM_000138.4(FBN1):c.7020_7021CA[1] (p.Thr2341fs) rs1555394579
NM_000138.4(FBN1):c.7071del (p.Val2358fs) rs1555394571
NM_000138.4(FBN1):c.7084G>T (p.Glu2362Ter) rs1555394570
NM_000138.4(FBN1):c.7094G>A (p.Cys2365Tyr) rs397515845
NM_000138.4(FBN1):c.7109del (p.Gly2370fs) rs869025422
NM_000138.4(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.4(FBN1):c.7139del (p.Phe2380fs) rs1555394561
NM_000138.4(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.4(FBN1):c.7149_7150TG[1] (p.Val2384fs) rs869025423
NM_000138.4(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.4(FBN1):c.7169G>A (p.Cys2390Tyr) rs864622754
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.4(FBN1):c.7191dup (p.Thr2398fs) rs1555394559
NM_000138.4(FBN1):c.7204+1G>T rs1555394557
NM_000138.4(FBN1):c.7204+2T>C rs1555394556
NM_000138.4(FBN1):c.7204G>A (p.Asp2402Asn)
NM_000138.4(FBN1):c.7205-1G>A rs794728266
NM_000138.4(FBN1):c.7205-2A>C rs1555394450
NM_000138.4(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.4(FBN1):c.7217_7226delinsTACAGA
NM_000138.4(FBN1):c.7229A>C (p.His2410Pro) rs193922230
NM_000138.4(FBN1):c.7252T>C (p.Cys2418Arg) rs1555394441
NM_000138.4(FBN1):c.7259del (p.Asn2420fs) rs869025424
NM_000138.4(FBN1):c.7324T>A (p.Cys2442Ser) rs1555394435
NM_000138.4(FBN1):c.7331-1G>C rs1555394412
NM_000138.4(FBN1):c.733C>T (p.Gln245Ter) rs1555401667
NM_000138.4(FBN1):c.7371dup (p.Ile2458fs) rs1555394407
NM_000138.4(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.4(FBN1):c.7408T>C (p.Cys2470Arg) rs1555394399
NM_000138.4(FBN1):c.7409G>A (p.Cys2470Tyr) rs1555394398
NM_000138.4(FBN1):c.7410C>G (p.Cys2470Trp) rs1555394397
NM_000138.4(FBN1):c.7421A>G (p.Tyr2474Cys) rs869025415
NM_000138.4(FBN1):c.7447T>C (p.Cys2483Arg) rs1555394391
NM_000138.4(FBN1):c.7453+1G>T rs397515851
NM_000138.4(FBN1):c.7465T>G (p.Cys2489Gly) rs1057520728
NM_000138.4(FBN1):c.7486T>A (p.Cys2496Ser) rs1555394246
NM_000138.4(FBN1):c.7487G>T (p.Cys2496Phe) rs1555394245
NM_000138.4(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer) rs397515852
NM_000138.4(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000138.4(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.4(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.4(FBN1):c.7566C>A (p.Cys2522Ter) rs1555394235
NM_000138.4(FBN1):c.7574del (p.Asn2525fs) rs1555394220
NM_000138.4(FBN1):c.7577del (p.Asn2526fs) rs1555394218
NM_000138.4(FBN1):c.7580A>C (p.Glu2527Ala) rs397515853
NM_000138.4(FBN1):c.7603T>C (p.Cys2535Arg) rs1555394212
NM_000138.4(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.4(FBN1):c.7608dup (p.Ser2537fs) rs1555394206
NM_000138.4(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.4(FBN1):c.7643del (p.Phe2548fs) rs1555394197
NM_000138.4(FBN1):c.7678del (p.Gln2560fs) rs193922235
NM_000138.4(FBN1):c.7699+1G>A rs1555394189
NM_000138.4(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000138.4(FBN1):c.7712G>T (p.Cys2571Phe) rs1555394153
NM_000138.4(FBN1):c.7719del (p.Asn2574fs) rs1555394152
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.4(FBN1):c.7735del (p.His2579fs) rs1566891454
NM_000138.4(FBN1):c.7742G>A (p.Cys2581Tyr) rs1555394149
NM_000138.4(FBN1):c.7746G>A (p.Gln2582=) rs1555394148
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7769G>A (p.Cys2590Tyr) rs869025416
NM_000138.4(FBN1):c.7800C>G (p.Tyr2600Ter) rs1404133653
NM_000138.4(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.4(FBN1):c.7819+1G>A rs112907302
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.7829A>T (p.Glu2610Val) rs1555393889
NM_000138.4(FBN1):c.7850G>A (p.Cys2617Tyr) rs1555393886
NM_000138.4(FBN1):c.7864T>A (p.Cys2622Ser) rs1555393882
NM_000138.4(FBN1):c.7864T>C (p.Cys2622Arg) rs1555393882
NM_000138.4(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.4(FBN1):c.7892G>T (p.Cys2631Phe) rs111856492
NM_000138.4(FBN1):c.7898G>C (p.Cys2633Ser) rs193922240
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280
NM_000138.4(FBN1):c.7921C>T (p.Gln2641Ter) rs1555393866
NM_000138.4(FBN1):c.7930delGins34 (p.?)
NM_000138.4(FBN1):c.7931_7937del (p.Gly2644fs) rs1555393862
NM_000138.4(FBN1):c.7936T>C (p.Cys2646Arg) rs1555393863
NM_000138.4(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.4(FBN1):c.7975T>G (p.Cys2659Gly) rs1555393847
NM_000138.4(FBN1):c.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.4(FBN1):c.8015G>A (p.Cys2672Tyr) rs1555393831
NM_000138.4(FBN1):c.8015G>C (p.Cys2672Ser) rs1555393831
NM_000138.4(FBN1):c.8020T>C (p.Cys2674Arg) rs1060501014
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8054A>G (p.His2685Arg) rs1555393666
NM_000138.4(FBN1):c.8087del (p.Asn2696fs) rs1060501065
NM_000138.4(FBN1):c.811T>G (p.Cys271Gly) rs1060501019
NM_000138.4(FBN1):c.8147dup (p.Tyr2716Ter) rs1555393657
NM_000138.4(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.4(FBN1):c.8148_8149insA (p.Glu2717fs) rs1555393653
NM_000138.4(FBN1):c.8203del (p.Glu2735fs) rs193922241
NM_000138.4(FBN1):c.8226+1G>A rs398122833
NM_000138.4(FBN1):c.8250_8251TG[3] (p.Ser2752Ter) rs1555393565
NM_000138.4(FBN1):c.8339T>C (p.Leu2780Pro) rs869025417
NM_000138.4(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863
NM_000138.4(FBN1):c.8412_8417del (p.Lys2805_Ile2806del) rs193922246
NM_000138.4(FBN1):c.8473_8475del (p.Gly2825del) rs727504454
NM_000138.4(FBN1):c.8479del (p.Tyr2827fs) rs1555393525
NM_000138.4(FBN1):c.8483C>G (p.Ser2828Ter) rs397515864
NM_000138.4(FBN1):c.8530C>T (p.Gln2844Ter) rs1555393510
NM_000138.4(FBN1):c.8544dup (p.Tyr2849fs) rs794728323
NM_000138.4(FBN1):c.8600A>C (p.Gln2867Pro) rs397515865
NM_000138.4(FBN1):c.8605_8606del (p.Leu2869fs) rs397515866
NM_000138.4(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000138.4(FBN1):c.959_960AC[1] (p.Thr321fs) rs1555401002
NM_000138.4(FBN1):c.959dup (p.Tyr320Ter) rs1555401005
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_181798.1(KCNQ1):c.227T>C (p.Leu76Pro) rs199472823

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