ClinVar Miner

List of variants reported as likely pathogenic for Loeys-Dietz syndrome

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1254
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln) rs920721092 0.00002
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys) rs752010116 0.00001
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp) rs193922186 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg) rs1206813753 0.00001
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg) rs1267721327 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.347-2A>G rs1555405056 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr) rs193922210 0.00001
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln) rs1060501079 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.610T>C (p.Cys204Arg) rs2044026132 0.00001
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr) rs363804 0.00001
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly) rs111687884 0.00001
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg) rs756219617 0.00001
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly) rs1057520617 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser) rs112566465 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His) rs748934203 0.00001
NM_003238.6(TGFB2):c.547C>T (p.Arg183Cys) rs1436552875 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln) rs727504292 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
GRCh37/hg19 15q21.1(chr15:48703187-48714265)
GRCh37/hg19 15q21.1(chr15:48703187-48766574)
GRCh37/hg19 15q21.1(chr15:48720543-48730114)
GRCh37/hg19 15q21.1(chr15:48722868-48726910)
GRCh37/hg19 15q21.1(chr15:48725063-48784783)
GRCh37/hg19 15q21.1(chr15:48725063-48892431)
GRCh37/hg19 15q21.1(chr15:48736739-48736857)
GRCh37/hg19 15q21.1(chr15:48777571-48791235)
GRCh37/hg19 15q21.1(chr15:48782048-48782275)
GRCh37/hg19 15q21.1(chr15:48789463-48791235)
NC_000001.10:g.(?_218578501)_(218610848_?)del
NC_000001.11:g.(?_218405159)_(218405342_?)dup
NC_000001.11:g.(?_218405159)_(218444629_?)del
NC_000001.11:g.(?_218435960)_(218437506_?)del
NC_000001.11:g.(?_218441194)_(218444629_?)del
NC_000014.8:g.(?_76425530)_(76432058_?)del
NC_000014.9:g.(?_75958692)_(75965705_?)del
NC_000014.9:g.(?_75958692)_(75971728_?)del
NC_000015.10:g.(48494255_48495122)_(48499039_48503786)del
NC_000015.10:g.(?_48410980)_(48411389_?)del
NC_000015.10:g.(?_48444521)_(48445524_?)del
NC_000015.10:g.(?_48470634)_(48470756_?)del
NC_000015.10:g.(?_48596273)_(48613102_?)dup
NC_000015.9:g.(?_48704746)_(48713023_?)dup
NC_000015.9:g.(?_48762825)_(48762959_?)del
NC_000015.9:g.(?_48812836)_(48905309_?)dup
NC_000015.9:g.(?_48888460)_(48905309_?)dup
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000138.4(FBN1):c.3465_3466delinsAAG (p.Asp1155fs) rs1555398527
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile) rs1555396205
NM_000138.4(FBN1):c.7930delGins34 (p.?)
NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg) rs1555400612
NM_000138.5(FBN1):c.1006T>G (p.Cys336Gly) rs1555400612
NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr) rs2141336245
NM_000138.5(FBN1):c.1072T>A (p.Cys358Ser)
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr) rs1555400606
NM_000138.5(FBN1):c.1075T>C (p.Cys359Arg) rs1555400604
NM_000138.5(FBN1):c.1076G>A (p.Cys359Tyr) rs1555400603
NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr) rs1555400601
NM_000138.5(FBN1):c.1097G>C (p.Trp366Ser)
NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly)
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) rs1597583989
NM_000138.5(FBN1):c.1147+2T>A rs2141335915
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del) rs672601352
NM_000138.5(FBN1):c.1167C>A (p.Cys389Ter) rs746201757
NM_000138.5(FBN1):c.1211del (p.Pro404fs) rs112289537
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser) rs1597581005
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr) rs1597581001
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.5(FBN1):c.1391del (p.Arg464fs) rs1555400385
NM_000138.5(FBN1):c.1402A>G (p.Thr468Ala) rs2043792730
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly) rs1555400380
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe) rs794728166
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg) rs794728326
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly) rs1555400373
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr) rs1555400372
NM_000138.5(FBN1):c.1463G>T (p.Cys488Phe) rs1555400372
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr) rs1057518881
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser) rs1057518881
NM_000138.5(FBN1):c.1495T>G (p.Cys499Gly) rs2043778680
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg) rs1555400288
NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys) rs1060501073
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser) rs1060501036
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe) rs1060501036
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs) rs397515758
NM_000138.5(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.5(FBN1):c.1588+1G>A rs2141327634
NM_000138.5(FBN1):c.1589-1217G>T
NM_000138.5(FBN1):c.1589-14A>G rs1566915335
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr) rs397515759
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
NM_000138.5(FBN1):c.1617del (p.Ile540fs) rs1555400066
NM_000138.5(FBN1):c.1622G>T (p.Cys541Phe) rs1555400064
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.1634G>C (p.Arg545Pro) rs193922179
NM_000138.5(FBN1):c.1636T>C (p.Cys546Arg) rs1555400062
NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr)
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.164+1G>T rs794728213
NM_000138.5(FBN1):c.164+1del rs1555407399
NM_000138.5(FBN1):c.164+2T>C rs727503058
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu) rs2140787387
NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr) rs794728172
NM_000138.5(FBN1):c.1665C>G (p.Cys555Trp) rs531101773
NM_000138.5(FBN1):c.1669T>C (p.Cys557Arg) rs2141323348
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup) rs193922181
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.5(FBN1):c.1671T>G (p.Cys557Trp) rs2141323336
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser) rs1064794283
NM_000138.5(FBN1):c.1678G>T (p.Gly560Cys) rs1064794283
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp) rs1555400052
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val) rs1555400052
NM_000138.5(FBN1):c.1709del (p.Cys570fs) rs193922182
NM_000138.5(FBN1):c.1714+1G>T rs2043745437
NM_000138.5(FBN1):c.1714+2T>C rs2141323212
NM_000138.5(FBN1):c.1714+2del rs876657645
NM_000138.5(FBN1):c.1715A>T (p.Asp572Val) rs1555399976
NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr) rs1555399974
NM_000138.5(FBN1):c.1737del (p.Asn580fs)
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs) rs869025420
NM_000138.5(FBN1):c.1745G>A (p.Cys582Tyr) rs2141321627
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg) rs1085307528
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu) rs1060501041
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly) rs1555399968
NM_000138.5(FBN1):c.176G>T (p.Cys59Phe) rs1555405673
NM_000138.5(FBN1):c.1775G>A (p.Gly592Asp) rs1555399959
NM_000138.5(FBN1):c.1793G>A (p.Cys598Tyr) rs1555399955
NM_000138.5(FBN1):c.1823del (p.Gly608fs) rs1555399949
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg) rs1555399944
NM_000138.5(FBN1):c.1836_1837+2delinsGGG rs2043731288
NM_000138.5(FBN1):c.1837+1G>T rs397515762
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1838-1G>A rs1555399840
NM_000138.5(FBN1):c.1843_1845del (p.Asn615del) rs1555399837
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.1846G>C (p.Glu616Gln)
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly) rs1060501017
NM_000138.5(FBN1):c.1849_1851del (p.Cys617del) rs2141317465
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr) rs1555399836
NM_000138.5(FBN1):c.1881_1883inv (p.Cys628Asn)
NM_000138.5(FBN1):c.1888A>C (p.Asn630His) rs1555399821
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr) rs1555399821
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro) rs2043697314
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro) rs1566914005
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg) rs869025404
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr) rs878853676
NM_000138.5(FBN1):c.1916_1917delinsTG (p.Cys639Leu) rs2043696899
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1948dup (p.Arg650fs) rs1566913982
NM_000138.5(FBN1):c.1960+2T>C rs1555399802
NM_000138.5(FBN1):c.1960G>A (p.Asp654Asn)
NM_000138.5(FBN1):c.1961-1G>A rs2043686634
NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly) rs1597574308
NM_000138.5(FBN1):c.1968_1969del (p.Met657fs) rs1555399775
NM_000138.5(FBN1):c.197A>G (p.Tyr66Cys) rs774371494
NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr) rs1060501086
NM_000138.5(FBN1):c.199T>C (p.Cys67Arg) rs2140737496
NM_000138.5(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.5(FBN1):c.1A>G (p.Met1Val) rs730880097
NM_000138.5(FBN1):c.201_203dup (p.Cys68dup) rs1555405664
NM_000138.5(FBN1):c.202T>C (p.Cys68Arg) rs113604459
NM_000138.5(FBN1):c.2034_2052del (p.Thr679fs)
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr) rs1597633163
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr) rs1555399763
NM_000138.5(FBN1):c.2051G>C (p.Cys684Ser) rs1555399763
NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe) rs1555399763
NM_000138.5(FBN1):c.2053T>C (p.Cys685Arg) rs1597574236
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr) rs1555399761
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter) rs1060501024
NM_000138.5(FBN1):c.2086T>G (p.Cys696Gly) rs2141315718
NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe) rs1566913685
NM_000138.5(FBN1):c.2096G>C (p.Cys699Ser) rs2043684108
NM_000138.5(FBN1):c.2113+2T>C rs730880105
NM_000138.5(FBN1):c.2118_2127del (p.Glu706fs) rs1555399482
NM_000138.5(FBN1):c.211T>A (p.Trp71Arg) rs1555405658
NM_000138.5(FBN1):c.211T>C (p.Trp71Arg) rs1555405658
NM_000138.5(FBN1):c.211T>G (p.Trp71Gly) rs1555405658
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.2167G>T (p.Asp723Tyr) rs1555399477
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2176del (p.Glu726fs) rs1555399385
NM_000138.5(FBN1):c.2186del (p.Leu729fs) rs193922187
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) rs2141306513
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr) rs1555399378
NM_000138.5(FBN1):c.2222A>G (p.Asn741Ser)
NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys)
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.5(FBN1):c.2258G>A (p.Gly753Glu) rs1555399365
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.5(FBN1):c.2289C>G (p.Cys763Trp) rs181311020
NM_000138.5(FBN1):c.2294-1G>C
NM_000138.5(FBN1):c.2294-2A>G
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs) rs1555399281
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg) rs1060501022
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.5(FBN1):c.2306G>T (p.Cys769Phe) rs794728190
NM_000138.5(FBN1):c.2341T>G (p.Cys781Gly)
NM_000138.5(FBN1):c.2342del (p.Cys781fs)
NM_000138.5(FBN1):c.2354C>A (p.Pro785His) rs956678986
NM_000138.5(FBN1):c.2364dup (p.Val789fs)
NM_000138.5(FBN1):c.2368T>A (p.Cys790Ser) rs1555399270
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser) rs193922188
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg) rs2141305039
NM_000138.5(FBN1):c.238T>G (p.Cys80Gly) rs111764111
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.23_34del (p.Glu8_Leu11del)
NM_000138.5(FBN1):c.2419+1G>A rs1555399257
NM_000138.5(FBN1):c.2420-1G>T rs1555399214
NM_000138.5(FBN1):c.2420-2A>G rs1060501052
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser) rs397515770
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp) rs397515771
NM_000138.5(FBN1):c.2467_2468insG (p.Asn823fs) rs1555399204
NM_000138.5(FBN1):c.247+2dup rs397515772
NM_000138.5(FBN1):c.247+3A>C rs201854371
NM_000138.5(FBN1):c.2474del (p.Pro825fs) rs1555399202
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro) rs193922189
NM_000138.5(FBN1):c.248-3C>G rs1555405537
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly) rs397515773
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp) rs397515776
NM_000138.5(FBN1):c.2502_2513del (p.Glu835_Leu838del) rs1555399195
NM_000138.5(FBN1):c.2529del (p.Ile844fs) rs1555399193
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro) rs193922191
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser) rs1555399165
NM_000138.5(FBN1):c.2558G>A (p.Cys853Tyr)
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg) rs2043596204
NM_000138.5(FBN1):c.2561G>C (p.Trp854Ser) rs1597568968
NM_000138.5(FBN1):c.2562G>T (p.Trp854Cys) rs1555399164
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter) rs1057519502
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr) rs1555399162
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr) rs794728193
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe) rs794728193
NM_000138.5(FBN1):c.2631del (p.Ser878fs) rs2141303607
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys) rs794728194
NM_000138.5(FBN1):c.2639G>C (p.Gly880Ala)
NM_000138.5(FBN1):c.2639G>T (p.Gly880Val) rs886038953
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2657_2671del (p.Pro886_Cys890del) rs2141303486
NM_000138.5(FBN1):c.2659T>C (p.Cys887Arg) rs2141303537
NM_000138.5(FBN1):c.265T>C (p.Cys89Arg) rs1555405533
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr) rs2043594601
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr) rs1555399144
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser) rs112660651
NM_000138.5(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.5(FBN1):c.2677+1G>A
NM_000138.5(FBN1):c.2677G>C (p.Asp893His) rs193922193
NM_000138.5(FBN1):c.2678-2A>G rs1555399101
NM_000138.5(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.5(FBN1):c.2687G>C (p.Cys896Ser)
NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs) rs397515778
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter) rs397515779
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg) rs869025405
NM_000138.5(FBN1):c.2695G>C (p.Gly899Arg) rs869025405
NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu) rs1555399094
NM_000138.5(FBN1):c.2698_2699insGG (p.Tyr900fs) rs1555399093
NM_000138.5(FBN1):c.2714del (p.Gly905fs) rs1555399089
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser) rs1057523406
NM_000138.5(FBN1):c.2728+1G>C rs794728322
NM_000138.5(FBN1):c.2728_2728+1delinsAA rs1566911331
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val) rs1284769637
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys) rs1555398996
NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala) rs1555398995
NM_000138.5(FBN1):c.2738A>G (p.Glu913Gly) rs1555398995
NM_000138.5(FBN1):c.2740T>A (p.Cys914Ser) rs1555398994
NM_000138.5(FBN1):c.2741G>A (p.Cys914Tyr) rs2141300503
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg) rs2140734026
NM_000138.5(FBN1):c.2764_2780del (p.Cys921_Lys922insTer) rs1555398988
NM_000138.5(FBN1):c.2803T>G (p.Cys935Gly)
NM_000138.5(FBN1):c.2808_2810del (p.Gln936_Cys937delinsHis) rs1555398981
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe) rs730880098
NM_000138.5(FBN1):c.2830del (p.Asp944fs)
NM_000138.5(FBN1):c.2833del (p.Ala945fs) rs397515781
NM_000138.5(FBN1):c.2849G>A (p.Cys950Tyr) rs1555398974
NM_000138.5(FBN1):c.2854G>C (p.Asp952His) rs2141300251
NM_000138.5(FBN1):c.2855-1G>C rs112202622
NM_000138.5(FBN1):c.2855-2A>G rs2141297577
NM_000138.5(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu) rs112911555
NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser) rs1555398834
NM_000138.5(FBN1):c.2884_2890del (p.Tyr962fs) rs1555398833
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.2913del (p.Ile971fs) rs1555398826
NM_000138.5(FBN1):c.2942G>A (p.Cys981Tyr) rs727505110
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser) rs727505110
NM_000138.5(FBN1):c.2943C>G (p.Cys981Trp)
NM_000138.5(FBN1):c.2948_2970del (p.Cys982_Ser983insTer) rs1555398811
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp) rs794728199
NM_000138.5(FBN1):c.2988T>A (p.Cys996Ter) rs1555398803
NM_000138.5(FBN1):c.298T>C (p.Cys100Arg) rs1597631662
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr) rs397515782
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe) rs397515782
NM_000138.5(FBN1):c.2T>C (p.Met1Thr) rs886041536
NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg) rs1555398793
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.304T>C (p.Cys102Arg) rs1566937712
NM_000138.5(FBN1):c.305G>A (p.Cys102Tyr) rs794728292
NM_000138.5(FBN1):c.305G>C (p.Cys102Ser) rs794728292
NM_000138.5(FBN1):c.3083-1G>C rs2141295345
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg)
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3126del (p.Lys1043fs)
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr) rs730880100
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser) rs2141295239
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs) rs193922197
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr) rs1555398673
NM_000138.5(FBN1):c.3144del (p.Ile1048fs) rs1555398672
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp) rs1555398670
NM_000138.5(FBN1):c.3149G>T (p.Ser1050Ile) rs987202268
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser) rs1555398668
NM_000138.5(FBN1):c.3157T>A (p.Cys1053Ser) rs1555398667
NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly) rs1555398667
NM_000138.5(FBN1):c.3165T>G (p.Cys1055Trp) rs1060501040
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser) rs886039208
NM_000138.5(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr) rs1555398659
NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser) rs1555398659
NM_000138.5(FBN1):c.3209-1G>C rs886038956
NM_000138.5(FBN1):c.3209-2A>C rs2043526284
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly) rs1555398648
NM_000138.5(FBN1):c.320_321del (p.Ile107fs) rs730880108
NM_000138.5(FBN1):c.3214G>C (p.Asp1072His) rs778867355
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3250G>C (p.Gly1084Arg) rs112553035
NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser) rs1555398633
NM_000138.5(FBN1):c.3271G>T (p.Gly1091Trp) rs2141294717
NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu) rs1566909798
NM_000138.5(FBN1):c.3284G>A (p.Cys1095Tyr) rs1597563934
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr) rs1555398627
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala) rs112547596
NM_000138.5(FBN1):c.3299G>T (p.Gly1100Val) rs112547596
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg) rs1555407429
NM_000138.5(FBN1):c.32_42del (p.Leu11fs) rs397515785
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3320_3323dup (p.Met1108fs) rs1555398622
NM_000138.5(FBN1):c.3331T>G (p.Cys1111Gly) rs2141294587
NM_000138.5(FBN1):c.3332G>C (p.Cys1111Ser)
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3337+1dup rs1566909762
NM_000138.5(FBN1):c.3338-2A>G rs2141293812
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.5(FBN1):c.3343G>T (p.Asp1115Tyr)
NM_000138.5(FBN1):c.3346G>A (p.Glu1116Lys) rs1555398582
NM_000138.5(FBN1):c.3347A>G (p.Glu1116Gly) rs1566909547
NM_000138.5(FBN1):c.3371G>C (p.Cys1124Ser) rs2141293726
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp) rs1064794882
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys) rs869025403
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser) rs397515790
NM_000138.5(FBN1):c.3393C>A (p.Asn1131Lys) rs775565475
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs) rs1555398566
NM_000138.5(FBN1):c.3412T>C (p.Cys1138Arg) rs1131691806
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr) rs397515791
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr) rs1060501075
NM_000138.5(FBN1):c.3419G>T (p.Cys1140Phe) rs1060501075
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.3444del (p.Asn1149fs) rs1555398551
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.5(FBN1):c.3464A>G (p.Asp1155Gly) rs2141293332
NM_000138.5(FBN1):c.3464A>T (p.Asp1155Val)
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg) rs794728205
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter) rs193922199
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr) rs2043515038
NM_000138.5(FBN1):c.3505G>C (p.Gly1169Arg)
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.5(FBN1):c.3512G>A (p.Cys1171Tyr) rs1555398521
NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr) rs1555398520
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
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.3558C>G (p.Tyr1186Ter) rs1555398510
NM_000138.5(FBN1):c.355T>C (p.Cys119Arg) rs2044551443
NM_000138.5(FBN1):c.356G>A (p.Cys119Tyr)
NM_000138.5(FBN1):c.3583T>G (p.Cys1195Gly) rs2141293091
NM_000138.5(FBN1):c.3589+1del
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His) rs397515793
NM_000138.5(FBN1):c.3590-2A>G rs2043498977
NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly) rs112025387
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
NM_000138.5(FBN1):c.3598G>A (p.Glu1200Lys)
NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val) rs1566908956
NM_000138.5(FBN1):c.3602G>A (p.Cys1201Tyr) rs1555398413
NM_000138.5(FBN1):c.3616G>A (p.Gly1206Ser)
NM_000138.5(FBN1):c.3616G>C (p.Gly1206Arg) rs1555398411
NM_000138.5(FBN1):c.3617G>A (p.Gly1206Asp) rs1555398409
NM_000138.5(FBN1):c.3617G>T (p.Gly1206Val)
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.5(FBN1):c.3624T>G (p.Cys1208Trp)
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del) rs1555398404
NM_000138.5(FBN1):c.3634T>C (p.Cys1212Arg) rs2043497933
NM_000138.5(FBN1):c.3635G>A (p.Cys1212Tyr) rs1057522908
NM_000138.5(FBN1):c.3640_3641del (p.Asn1214fs) rs2141291345
NM_000138.5(FBN1):c.3641A>G (p.Asn1214Ser) rs1555398401
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.3661T>A (p.Cys1221Ser) rs2141291310
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val) rs1555398387
NM_000138.5(FBN1):c.3706T>C (p.Cys1236Arg) rs1555398380
NM_000138.5(FBN1):c.3706T>G (p.Cys1236Gly) rs1555398380
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3721G>A (p.Glu1241Lys)
NM_000138.5(FBN1):c.3722A>G (p.Glu1241Gly) rs2043485666
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.5(FBN1):c.3726T>G (p.Cys1242Trp)
NM_000138.5(FBN1):c.3759del (p.Gln1253fs) rs1555398287
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp) rs772890884
NM_000138.5(FBN1):c.3783del (p.Glu1260_Tyr1261insTer) rs1555398282
NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser) rs1555398279
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn) rs794728210
NM_000138.5(FBN1):c.3839A>T (p.Asp1280Val) rs1555398179
NM_000138.5(FBN1):c.3847G>A (p.Glu1283Lys) rs1555398176
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala) rs397515796
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.3893A>C (p.Asn1298Thr)
NM_000138.5(FBN1):c.3893dup (p.Asn1298fs) rs869025425
NM_000138.5(FBN1):c.3904_3915del (p.Ser1302_Cys1305del)
NM_000138.5(FBN1):c.390del (p.Ser130fs) rs1555405045
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter) rs1555398152
NM_000138.5(FBN1):c.3921T>G (p.Cys1307Trp) rs2043466446
NM_000138.5(FBN1):c.3928G>C (p.Gly1310Arg)
NM_000138.5(FBN1):c.3928G>T (p.Gly1310Cys) rs2043466325
NM_000138.5(FBN1):c.3932A>G (p.Tyr1311Cys) rs1555398148
NM_000138.5(FBN1):c.3945del (p.Gly1316fs) rs1555398144
NM_000138.5(FBN1):c.3947_3948delinsT (p.Gly1316fs) rs1555398139
NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser) rs113393517
NM_000138.5(FBN1):c.3959G>T (p.Cys1320Phe) rs113393517
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly) rs1555397744
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp) rs1555397741
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.5(FBN1):c.3993del (p.His1331fs) rs1555397736
NM_000138.5(FBN1):c.4007_4010del (p.His1336fs)
NM_000138.5(FBN1):c.400T>C (p.Cys134Arg) rs1555405044
NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr) rs397515798
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4032_4033del (p.Ser1345fs) rs1555397723
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser) rs397515799
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg) rs397515799
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly) rs397515799
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.5(FBN1):c.4056del (p.Trp1354fs) rs1555397713
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.406T>A (p.Cys136Ser) rs1555405041
NM_000138.5(FBN1):c.406T>C (p.Cys136Arg) rs1555405041
NM_000138.5(FBN1):c.406T>G (p.Cys136Gly) rs1555405041
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg) rs1566906506
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)
NM_000138.5(FBN1):c.4087+5G>A rs1555397692
NM_000138.5(FBN1):c.4087G>T (p.Asp1363Tyr)
NM_000138.5(FBN1):c.4088-2A>G
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln) rs763449629
NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser) rs1555397670
NM_000138.5(FBN1):c.4139G>A (p.Cys1380Tyr)
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr) rs1555397658
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys) rs397515801
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly) rs193922203
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn) rs1597553721
NM_000138.5(FBN1):c.4196_4197insA (p.Phe1400fs)
NM_000138.5(FBN1):c.4197del (p.Phe1400fs) rs869025421
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn) rs794728220
NM_000138.5(FBN1):c.4211-2A>G
NM_000138.5(FBN1):c.4211A>G (p.Asp1404Gly)
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly) rs2043386794
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr) rs1555397556
NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del) rs397515803
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys) rs1555397548
NM_000138.5(FBN1):c.4287_4288del (p.Cys1429_Glu1430delinsTer) rs1555397542
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr) rs1555397540
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp) rs112375043
NM_000138.5(FBN1):c.4301_4302insAG (p.Phe1435fs) rs1555397536
NM_000138.5(FBN1):c.4301del (p.Gly1434fs) rs1555397537
NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn) rs794728221
NM_000138.5(FBN1):c.4337-1G>A rs1555397424
NM_000138.5(FBN1):c.4337-1G>T rs1555397424
NM_000138.5(FBN1):c.4337-2A>G rs794728216
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.433T>C (p.Cys145Arg) rs1555405031
NM_000138.5(FBN1):c.433T>G (p.Cys145Gly) rs1555405031
NM_000138.5(FBN1):c.4346_4349dup (p.Cys1450Ter) rs1555397420
NM_000138.5(FBN1):c.4348T>A (p.Cys1450Ser) rs1555397421
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe) rs1555397419
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe) rs397515805
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup) rs1555397404
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg) rs1555397403
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.5(FBN1):c.4454G>A (p.Cys1485Tyr) rs111978932
NM_000138.5(FBN1):c.4459+2T>G rs1555397393
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn) rs113693945
NM_000138.5(FBN1):c.4460-1G>C rs113082854
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4474del (p.Leu1492fs) rs1555397214
NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser) rs1555397213
NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp) rs2043341481
NM_000138.5(FBN1):c.449G>T (p.Cys150Phe)
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr) rs1555397211
NM_000138.5(FBN1):c.4511A>T (p.Asn1504Ile) rs1555397209
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.5(FBN1):c.4525T>G (p.Tyr1509Asp)
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) rs730880102
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.5(FBN1):c.4531T>G (p.Cys1511Gly) rs397515811
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr) rs1555397204
NM_000138.5(FBN1):c.4538G>T (p.Cys1513Phe) rs1555397204
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys) rs193922206
NM_000138.5(FBN1):c.4562C>T (p.Pro1521Leu) rs2141272892
NM_000138.5(FBN1):c.4579_4580del (p.Cys1526_Val1527insTer) rs1555397197
NM_000138.5(FBN1):c.4582+1G>A rs1555397195
NM_000138.5(FBN1):c.4583-1G>A rs1555397176
NM_000138.5(FBN1):c.4583-5A>G rs778966916
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.5(FBN1):c.4589G>T (p.Arg1530Leu)
NM_000138.5(FBN1):c.458del (p.Gly153fs)
NM_000138.5(FBN1):c.4602C>G (p.Cys1534Trp) rs1555397174
NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr)
NM_000138.5(FBN1):c.461G>T (p.Cys154Phe)
NM_000138.5(FBN1):c.4629del (p.Asp1543fs) rs2043337738
NM_000138.5(FBN1):c.4649del (p.Ser1550fs) rs1597548716
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser) rs193922207
NM_000138.5(FBN1):c.4685G>T (p.Cys1562Phe) rs2141272349
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser) rs1597548672
NM_000138.5(FBN1):c.4700del (p.Gly1567fs) rs1566904526
NM_000138.5(FBN1):c.4729T>C (p.Cys1577Arg)
NM_000138.5(FBN1):c.4741_4747+7del
NM_000138.5(FBN1):c.4747+1G>A rs2141272220
NM_000138.5(FBN1):c.4747+3A>T rs1555397145
NM_000138.5(FBN1):c.4747+5G>T rs193922209
NM_000138.5(FBN1):c.4748-1G>A rs2141270027
NM_000138.5(FBN1):c.4748-2A>G rs2141270032
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe) rs1555397024
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro) rs769588424
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr) rs1555404810
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=) rs869025408
NM_000138.5(FBN1):c.4816+1G>T rs1555397014
NM_000138.5(FBN1):c.4817-2A>G rs1555397008
NM_000138.5(FBN1):c.4857_4865del (p.Gly1620_Cys1622del) rs2141269721
NM_000138.5(FBN1):c.488del (p.Pro163fs) rs1555404806
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser) rs1555396998
NM_000138.5(FBN1):c.4897T>C (p.Cys1633Arg)
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe) rs397515814
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) rs397515816
NM_000138.5(FBN1):c.4943-1G>A rs1555396863
NM_000138.5(FBN1):c.4943-1G>C rs1555396863
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) rs363852
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser) rs397515818
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser) rs1555396853
NM_000138.5(FBN1):c.4996_5007del (p.Thr1666_Asn1669del) rs2141267678
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs) rs869025426
NM_000138.5(FBN1):c.5020T>C (p.Cys1674Arg) rs1555396844
NM_000138.5(FBN1):c.502T>G (p.Cys168Gly) rs2044515247
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.5(FBN1):c.504C>G (p.Cys168Trp) rs200295020
NM_000138.5(FBN1):c.5060G>A (p.Cys1687Tyr)
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter) rs1555396838
NM_000138.5(FBN1):c.5065+1G>C rs1296209846
NM_000138.5(FBN1):c.5065+1G>T rs1296209846
NM_000138.5(FBN1):c.5066-9_5086dup rs1566903283
NM_000138.5(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly) rs1597545345
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys) rs387906626
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.510del (p.Thr169_Tyr170insTer) rs1597623670
NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr) rs1555396769
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg) rs1597545230
NM_000138.5(FBN1):c.5179del (p.Arg1727fs) rs1555396765
NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr) rs1060501070
NM_000138.5(FBN1):c.5225-2A>C rs1555396639
NM_000138.5(FBN1):c.5225-2A>G
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter) rs397515820
NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp)
NM_000138.5(FBN1):c.5261G>T (p.Gly1754Val)
NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter) rs730880103
NM_000138.5(FBN1):c.5296+1G>C rs1555396630
NM_000138.5(FBN1):c.5296+6T>C rs1555396629
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg) rs363853
NM_000138.5(FBN1):c.52del (p.Ala18fs) rs1555407423
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr) rs2043241537
NM_000138.5(FBN1):c.531dup (p.Glu178Ter) rs1555404800
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg) rs1597540907
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.5(FBN1):c.5369G>C (p.Arg1790Pro) rs1555396428
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg) rs1555396419
NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly) rs1555396419
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe) rs1555396418
NM_000138.5(FBN1):c.5422+1del rs2141260277
NM_000138.5(FBN1):c.5422_5422+1delinsTT rs1566901570
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly) rs2141256116
NM_000138.5(FBN1):c.5435G>A (p.Cys1812Tyr) rs1555396213
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.5452T>G (p.Cys1818Gly)
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) rs1597537835
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr) rs1597537815
NM_000138.5(FBN1):c.5499dup (p.Asp1834Ter) rs1555396199
NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg) rs1555396198
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5504G>T (p.Cys1835Phe) rs111929350
NM_000138.5(FBN1):c.5512G>C (p.Gly1838Arg) rs397515823
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.5(FBN1):c.5539T>C (p.Cys1847Arg) rs1555396186
NM_000138.5(FBN1):c.5545+1G>A rs1260109901
NM_000138.5(FBN1):c.5545+1del rs1566900469
NM_000138.5(FBN1):c.5545+2T>C rs2043209059
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.554_556del (p.Pro185_Cys186delinsArg) rs1555401701
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser) rs193922214
NM_000138.5(FBN1):c.5555A>C (p.Glu1852Ala)
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr) rs1555395989
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu) rs113086760
NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg) rs1555395984
NM_000138.5(FBN1):c.561del (p.Phe187fs) rs397515825
NM_000138.5(FBN1):c.5621G>T (p.Cys1874Phe) rs2141252159
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.5628C>G (p.Cys1876Trp) rs2141252143
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr) rs1566899500
NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn) rs193922216
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His) rs193922216
NM_000138.5(FBN1):c.5671G>T (p.Asp1891Tyr)
NM_000138.5(FBN1):c.5672-1G>A rs1555395849
NM_000138.5(FBN1):c.5672-2A>T
NM_000138.5(FBN1):c.5672-87A>G rs1060501029
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser) rs1597533707
NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys) rs1597533706
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe) rs794728237
NM_000138.5(FBN1):c.56C>T (p.Ser19Phe) rs193922218
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp) rs397515824
NM_000138.5(FBN1):c.5720A>G (p.Asn1907Ser) rs1060501087
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys) rs397515826
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys) rs1597533619
NM_000138.5(FBN1):c.5734_5736del (p.Phe1912del)
NM_000138.5(FBN1):c.5740T>G (p.Cys1914Gly) rs2141250333
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.5(FBN1):c.577del (p.Gln193fs) rs1555401697
NM_000138.5(FBN1):c.5788+1G>T rs1555395819
NM_000138.5(FBN1):c.5788+2T>C rs1555395818
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.5788G>T (p.Asp1930Tyr) rs1555395820
NM_000138.5(FBN1):c.5789-1G>A rs2043152080
NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser) rs1555395767
NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg) rs1555395767
NM_000138.5(FBN1):c.5824T>A (p.Cys1942Ser) rs1555395762
NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly) rs1555395762
NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr) rs794728241
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val) rs2141249218
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs) rs1555395757
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys) rs730880104
NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu)
NM_000138.5(FBN1):c.5863CAGTGC[1] (p.1955QC[1])
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter) rs397515829
NM_000138.5(FBN1):c.5888del (p.Glu1963fs) rs727504315
NM_000138.5(FBN1):c.590del (p.Gly197fs) rs1555401695
NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly) rs1555395745
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr) rs111239111
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000138.5(FBN1):c.5917+1_5917+11del rs2141249066
NM_000138.5(FBN1):c.5918-2A>G rs869025418
NM_000138.5(FBN1):c.5919dup (p.Ile1974fs) rs1555395670
NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)
NM_000138.5(FBN1):c.5929T>A (p.Cys1977Ser) rs2141248174
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg) rs1555395659
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.5(FBN1):c.5952T>G (p.Cys1984Trp)
NM_000138.5(FBN1):c.5959G>T (p.Gly1987Cys)
NM_000138.5(FBN1):c.5965T>A (p.Cys1989Ser) rs2043139988
NM_000138.5(FBN1):c.5965T>G (p.Cys1989Gly) rs2043139988
NM_000138.5(FBN1):c.5966G>C (p.Cys1989Ser) rs1597531796
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000138.5(FBN1):c.5993G>T (p.Cys1998Phe) rs1085307531
NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp) rs1555395648
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr) rs1555395645
NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser) rs1057519320
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs) rs193922220
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
NM_000138.5(FBN1):c.6019C>T (p.Gln2007Ter) rs1555395641
NM_000138.5(FBN1):c.6037G>C (p.Asp2013His) rs1555395638
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.6070dup (p.Cys2024fs) rs1597529829
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys) rs1566897404
NM_000138.5(FBN1):c.6080del (p.Gly2027fs) rs1555395480
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr) rs1057517855
NM_000138.5(FBN1):c.6087C>G (p.Cys2029Trp) rs1555395475
NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser) rs363804
NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg) rs1597529748
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.5(FBN1):c.6163+1G>A rs1566897374
NM_000138.5(FBN1):c.6163+1_6163+2del
NM_000138.5(FBN1):c.6164-1G>C rs1060501048
NM_000138.5(FBN1):c.6164-2A>G rs794728244
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg) rs1555395267
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.5(FBN1):c.619dup (p.Thr207fs) rs1555401689
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr) rs1060501044
NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe) rs1060501044
NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys) rs1555395263
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.5(FBN1):c.6250T>A (p.Cys2084Ser) rs2141241499
NM_000138.5(FBN1):c.6251G>A (p.Cys2084Tyr) rs794728245
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr) rs1555395261
NM_000138.5(FBN1):c.6254G>C (p.Cys2085Ser) rs1555395261
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser) rs1555401687
NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp) rs878853687
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg) rs794728246
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter) rs397515831
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr) rs1085307468
NM_000138.5(FBN1):c.6313+2T>C rs1555395257
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys) rs794728247
NM_000138.5(FBN1):c.6313_6313+1delinsAC
NM_000138.5(FBN1):c.6314-3del rs2141240967
NM_000138.5(FBN1):c.6314-7_6322del rs2141240946
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg) rs363815
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)
NM_000138.5(FBN1):c.634A>C (p.Thr212Pro) rs1597593736
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.5(FBN1):c.6373_6379+1dup
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6379+2T>C rs113453570
NM_000138.5(FBN1):c.6379+2T>G rs113453570
NM_000138.5(FBN1):c.6379+5G>A rs1085307875
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn) rs1555395225
NM_000138.5(FBN1):c.6380-2A>C rs886041482
NM_000138.5(FBN1):c.6380-2A>G rs886041482
NM_000138.5(FBN1):c.6380A>G (p.Asp2127Gly) rs2141240523
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val) rs2141240523
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr) rs193922223
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly) rs1566896114
NM_000138.5(FBN1):c.6386A>T (p.Asp2129Val) rs1566896114
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6414del (p.Lys2138fs) rs1555395205
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu) rs1064793118
NM_000138.5(FBN1):c.6424T>A (p.Cys2142Ser) rs1555395203
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp) rs1597525958
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6483_6496+1del rs2141240279
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly) rs2141240296
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.5(FBN1):c.6496+1G>A rs1555395188
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.5(FBN1):c.6497-1G>A
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly) rs193922224
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly) rs1555395015
NM_000138.5(FBN1):c.6505G>A (p.Glu2169Lys)
NM_000138.5(FBN1):c.6505G>T (p.Glu2169Ter)
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg) rs1597523873
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr) rs363821
NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs) rs397515834
NM_000138.5(FBN1):c.6524del (p.Pro2175fs) rs1555395013
NM_000138.5(FBN1):c.6527G>A (p.Cys2176Tyr)
NM_000138.5(FBN1):c.6528T>G (p.Cys2176Trp) rs2141237128
NM_000138.5(FBN1):c.6549T>G (p.Asn2183Lys) rs752192006
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs) rs193922225
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr) rs910656654
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)
NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser) rs1566895263
NM_000138.5(FBN1):c.6568T>C (p.Cys2190Arg)
NM_000138.5(FBN1):c.6568T>G (p.Cys2190Gly)
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe) rs1566895262
NM_000138.5(FBN1):c.6575G>A (p.Cys2192Tyr) rs2043050838
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp) rs369058466
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser)
NM_000138.5(FBN1):c.6611G>T (p.Cys2204Phe) rs886039158
NM_000138.5(FBN1):c.6615A>G (p.Glu2205=)
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.6616+1G>T rs1064793980
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
NM_000138.5(FBN1):c.6617-1G>C rs2141235271
NM_000138.5(FBN1):c.6617-2A>C rs1597522588
NM_000138.5(FBN1):c.6617-2A>G
NM_000138.5(FBN1):c.6617-9_6617-8inv
NM_000138.5(FBN1):c.6628T>A (p.Cys2210Ser) rs794728253
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp) rs397515836
NM_000138.5(FBN1):c.6645del (p.Leu2216fs) rs1555394928
NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser) rs397515837
NM_000138.5(FBN1):c.6656dup (p.Arg2220fs) rs1555394925
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6670dup (p.Thr2224fs)
NM_000138.5(FBN1):c.6688T>C (p.Cys2230Arg) rs1555394906
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg) rs869025411
NM_000138.5(FBN1):c.6694T>G (p.Cys2232Gly)
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6698C>A (p.Pro2233His) rs1566894783
NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu) rs1566894783
NM_000138.5(FBN1):c.6704del (p.Gly2235fs) rs193922226
NM_000138.5(FBN1):c.6705del (p.Tyr2236fs) rs1555394900
NM_000138.5(FBN1):c.670T>C (p.Cys224Arg) rs1555401676
NM_000138.5(FBN1):c.6739+1G>A rs869025419
NM_000138.5(FBN1):c.6739+1G>C rs869025419
NM_000138.5(FBN1):c.6739+2T>A rs730880107
NM_000138.5(FBN1):c.6740-10T>G rs1456822662
NM_000138.5(FBN1):c.6740-2del rs1555394783
NM_000138.5(FBN1):c.6740-3C>G rs1566894334
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val) rs2043018196
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr) rs794728256
NM_000138.5(FBN1):c.6770_6771dup (p.Cys2258fs) rs1555394779
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs) rs1555394777
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs) rs1555394776
NM_000138.5(FBN1):c.6790del (p.Glu2264fs) rs1555394775
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs) rs193922227
NM_000138.5(FBN1):c.6801C>A (p.Asn2267Lys) rs886051245
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys) rs886051245
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn) rs193922228
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys) rs2141232534
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg) rs869025412
NM_000138.5(FBN1):c.6826T>G (p.Cys2276Gly) rs2043017257
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp) rs1597520625
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter) rs397515840
NM_000138.5(FBN1):c.6856G>T (p.Gly2286Ter) rs1555394756
NM_000138.5(FBN1):c.6865T>A (p.Cys2289Ser)
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg) rs869025413
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser) rs1566894230
NM_000138.5(FBN1):c.6872-961A>G rs1597519658
NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala) rs1555394647
NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly) rs1555394644
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp) rs1480832655
NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp) rs1555394634
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs) rs1555394630
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr) rs137854457
NM_000138.5(FBN1):c.6927del (p.Asn2309fs) rs1555394633
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs) rs1555394631
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr) rs1555394629
NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe) rs1555394629
NM_000138.5(FBN1):c.6949G>T (p.Glu2317Ter) rs1555394628
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg) rs111588631
NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr) rs1555394626
NM_000138.5(FBN1):c.6964delinsGG (p.Phe2322fs)
NM_000138.5(FBN1):c.6992G>T (p.Cys2331Phe) rs397515842
NM_000138.5(FBN1):c.6992_6997+6del rs2141229796
NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter) rs534811966
NM_000138.5(FBN1):c.6997+1G>A rs2042997306
NM_000138.5(FBN1):c.6997+4A>G rs727503055
NM_000138.5(FBN1):c.6998-13A>G rs2042989627
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly) rs794728262
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.700G>T (p.Gly234Cys)
NM_000138.5(FBN1):c.7014C>G (p.Tyr2338Ter) rs1555394582
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr) rs1555394580
NM_000138.5(FBN1):c.7022_7023del (p.Thr2341fs) rs1555394579
NM_000138.5(FBN1):c.7071del (p.Val2358fs) rs1555394571
NM_000138.5(FBN1):c.7084G>T (p.Glu2362Ter) rs1555394570
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly) rs1597517935
NM_000138.5(FBN1):c.7088G>T (p.Cys2363Phe) rs2042988482
NM_000138.5(FBN1):c.7089CTG[1] (p.Cys2365del)
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr) rs397515845
NM_000138.5(FBN1):c.7109del (p.Gly2370fs) rs869025422
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp) rs1555394562
NM_000138.5(FBN1):c.7139del (p.Phe2380fs) rs1555394561
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) rs869025423
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser) rs397515847
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.5(FBN1):c.7184G>A (p.Gly2395Glu)
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7191dup (p.Thr2398fs) rs1555394559
NM_000138.5(FBN1):c.7204+1G>A rs1555394557
NM_000138.5(FBN1):c.7204+1G>T rs1555394557
NM_000138.5(FBN1):c.7204+2T>C rs1555394556
NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn) rs1057524757
NM_000138.5(FBN1):c.7205-2A>C rs1555394450
NM_000138.5(FBN1):c.7216T>C (p.Cys2406Arg) rs2042976167
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs) rs1597516501
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro) rs193922230
NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser) rs1566892915
NM_000138.5(FBN1):c.7251_7262del (p.Glu2417_Asn2420del)
NM_000138.5(FBN1):c.7252T>A (p.Cys2418Ser) rs1555394441
NM_000138.5(FBN1):c.7252T>C (p.Cys2418Arg) rs1555394441
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) rs794728270
NM_000138.5(FBN1):c.7259del (p.Asn2420fs) rs869025424
NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg) rs1566892883
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr) rs2141226916
NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys) rs1555394437
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser) rs1555394435
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr) rs1597516347
NM_000138.5(FBN1):c.7330+3_7330+6del rs1597516325
NM_000138.5(FBN1):c.7331-1G>C rs1555394412
NM_000138.5(FBN1):c.7339G>C (p.Glu2447Gln)
NM_000138.5(FBN1):c.733C>T (p.Gln245Ter) rs1555401667
NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp) rs1555394408
NM_000138.5(FBN1):c.737-17_740del rs1597591735
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs) rs1555394407
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr) rs1555394406
NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe) rs1555394406
NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser) rs1555394405
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.5(FBN1):c.7399del (p.Gln2467fs) rs2042971434
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg) rs1555394399
NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr) rs1555394398
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp) rs1555394397
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu) rs193922233
NM_000138.5(FBN1):c.7418G>A (p.Gly2473Asp) rs2042971166
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys) rs869025415
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg) rs1555394391
NM_000138.5(FBN1):c.7447T>G (p.Cys2483Gly)
NM_000138.5(FBN1):c.7453+1G>T rs397515851
NM_000138.5(FBN1):c.7453+2T>G
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly) rs1085307921
NM_000138.5(FBN1):c.7463A>G (p.Glu2488Gly)
NM_000138.5(FBN1):c.7465T>A (p.Cys2489Ser) rs1057520728
NM_000138.5(FBN1):c.7465T>G (p.Cys2489Gly) rs1057520728
NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser) rs1555394246
NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe) rs1555394245
NM_000138.5(FBN1):c.748T>C (p.Cys250Arg)
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer) rs397515852
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly) rs1060501055
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7566C>A (p.Cys2522Ter) rs1555394235
NM_000138.5(FBN1):c.7571-1G>A rs1566891706
NM_000138.5(FBN1):c.7574del (p.Asn2525fs) rs1555394220
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) rs794728336
NM_000138.5(FBN1):c.7577del (p.Asn2526fs) rs1555394218
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala) rs397515853
NM_000138.5(FBN1):c.7603T>C (p.Cys2535Arg) rs1555394212
NM_000138.5(FBN1):c.7603T>G (p.Cys2535Gly)
NM_000138.5(FBN1):c.7604_7605delinsTG (p.Cys2535Leu)
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7608dup (p.Ser2537fs) rs1555394206
NM_000138.5(FBN1):c.7622G>A (p.Cys2541Tyr)
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.7643del (p.Phe2548fs) rs1555394197
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg) rs1566891668
NM_000138.5(FBN1):c.7655G>T (p.Cys2552Phe) rs113334360
NM_000138.5(FBN1):c.7678del (p.Gln2560fs) rs193922235
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.7710_7712del (p.Glu2570_Cys2571delinsAsp)
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000138.5(FBN1):c.7712G>T (p.Cys2571Phe) rs1555394153
NM_000138.5(FBN1):c.7713_7730del (p.Glu2572_Cys2577del) rs2141220791
NM_000138.5(FBN1):c.7719del (p.Asn2574fs) rs1555394152
NM_000138.5(FBN1):c.7735del (p.His2579fs) rs1566891454
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr) rs1555394149
NM_000138.5(FBN1):c.7746G>A (p.Gln2582=) rs1555394148
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly) rs111413134
NM_000138.5(FBN1):c.7768T>G (p.Cys2590Gly)
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr) rs869025416
NM_000138.5(FBN1):c.776G>T (p.Gly259Val) rs751169871
NM_000138.5(FBN1):c.7776_7819+37delinsTAGCT rs2141220506
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter) rs1404133653
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.5(FBN1):c.7817T>A (p.Val2606Asp) rs2141220600
NM_000138.5(FBN1):c.7819+1G>A rs112907302
NM_000138.5(FBN1):c.7819+1G>T rs112907302
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn) rs1597512576
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7829A>T (p.Glu2610Val) rs1555393889
NM_000138.5(FBN1):c.7850G>A (p.Cys2617Tyr) rs1555393886
NM_000138.5(FBN1):c.7864T>A (p.Cys2622Ser) rs1555393882
NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg) rs1555393882
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln) rs794728338
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu) rs1555393875
NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala) rs1555393875
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe) rs111856492
NM_000138.5(FBN1):c.7897T>G (p.Cys2633Gly) rs1555393871
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser) rs193922240
NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter) rs1555393866
NM_000138.5(FBN1):c.7931_7937del (p.Gly2644fs) rs1555393862
NM_000138.5(FBN1):c.7936T>C (p.Cys2646Arg) rs1555393863
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly) rs1555393847
NM_000138.5(FBN1):c.7976_7977delinsTT (p.Cys2659Phe)
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del) rs1597509607
NM_000138.5(FBN1):c.799_805del (p.Gly267fs) rs1060501100
NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys) rs794728339
NM_000138.5(FBN1):c.8012T>C (p.Leu2671Pro) rs2141214610
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr) rs1555393831
NM_000138.5(FBN1):c.8015G>C (p.Cys2672Ser) rs1555393831
NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe) rs1555393831
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg) rs1060501014
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg) rs1555393825
NM_000138.5(FBN1):c.8051+1G>A rs2141214507
NM_000138.5(FBN1):c.8051+2T>A rs2141214505
NM_000138.5(FBN1):c.8052-2A>G
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg) rs1555393666
NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr)
NM_000138.5(FBN1):c.8087del (p.Asn2696fs) rs1060501065
NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs)
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly) rs1060501019
NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter) rs1555393657
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8148_8149insA (p.Glu2717fs) rs1555393653
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035
NM_000138.5(FBN1):c.8176del (p.Arg2726fs)
NM_000138.5(FBN1):c.8203del (p.Glu2735fs) rs193922241
NM_000138.5(FBN1):c.8226+1G>A rs398122833
NM_000138.5(FBN1):c.8252_8253dup (p.Ser2752Ter) rs1555393565
NM_000138.5(FBN1):c.8329del (p.Ile2777fs) rs1566888689
NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg) rs1555393553
NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter) rs1555393551
NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro) rs869025417
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His) rs113722038
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863
NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del) rs193922246
NM_000138.5(FBN1):c.8444T>A (p.Leu2815His) rs113170280
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro) rs1555393532
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del) rs727504454
NM_000138.5(FBN1):c.8479del (p.Tyr2827fs) rs1555393525
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter) rs397515864
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter) rs1555393510
NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs) rs794728323
NM_000138.5(FBN1):c.8561del (p.Leu2854fs) rs1060501033
NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr) rs1060501028
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs) rs1597506547
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro) rs397515865
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs) rs397515866
NM_000138.5(FBN1):c.863-2A>G
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000138.5(FBN1):c.938G>T (p.Cys313Phe) rs2141343367
NM_000138.5(FBN1):c.943T>C (p.Cys315Arg)
NM_000138.5(FBN1):c.959dup (p.Tyr320Ter) rs1555401005
NM_000138.5(FBN1):c.961_962del (p.Thr321fs) rs1555401002
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly) rs1597587453
NM_000138.5(FBN1):c.997_1032del (p.Pro333_Arg344del) rs2043846857
NM_000138.5:c.(7204+1_7205-1)_(7819+1_7820-1)del
NM_001844.5(COL2A1):c.3435+4_3435+7del
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) rs1057519321
NM_003238.6(TGFB2):c.1049G>A (p.Cys350Tyr) rs1558264109
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter) rs1656706610
NM_003238.6(TGFB2):c.346+1G>A rs1553292145
NM_003238.6(TGFB2):c.346+1G>T rs1553292145
NM_003238.6(TGFB2):c.370dup (p.Arg124fs) rs869025533
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) rs869025531
NM_003238.6(TGFB2):c.458G>A (p.Arg153His) rs1057518684
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) rs730880221
NM_003238.6(TGFB2):c.622delinsGG (p.His208fs) rs1659897581
NM_003238.6(TGFB2):c.754+1G>A
NM_003238.6(TGFB2):c.755-5_755-2delinsG rs1553303161
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.921_932+4del
NM_003238.6(TGFB2):c.933-1G>A
NM_003238.6(TGFB2):c.933-2A>C
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.1081-1G>A
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter) rs1555360027
NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)
NM_003239.5(TGFB3):c.353-1G>C rs1555360883
NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys)
NM_003239.5(TGFB3):c.517-1G>C rs1566682530
NM_003239.5(TGFB3):c.517-2A>G rs2035287906
NM_003239.5(TGFB3):c.646+1G>T
NM_003239.5(TGFB3):c.754+1G>A
NM_003239.5(TGFB3):c.755-1G>A
NM_003239.5(TGFB3):c.884del (p.Gly295fs)
NM_003239.5(TGFB3):c.916del (p.Tyr306fs) rs1555360362
NM_003239.5(TGFB3):c.926+1G>A rs2035180096
NM_003239.5(TGFB3):c.926+1G>T rs2035180096
NM_003239.5(TGFB3):c.927-1G>C rs767548724
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys) rs2140236263
NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) rs869025537
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1102T>C (p.Cys368Arg) rs2125436184
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser) rs1575158079
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg) rs2125436754
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) rs730880224
NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro) rs2125439099
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser) rs104893811
NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro) rs104893816
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) rs587782979
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp) rs863224935
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln) rs200958264
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) rs397516840
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) rs193922664
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) rs727503472
NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser) rs2125434732
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_004612.4(TGFBR1):c.1060C>A (p.Leu354Met)
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro) rs1554701914
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn) rs2118827924
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr) rs1827899415
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) rs730880223
NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser)
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser) rs1588598651
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.1468A>G (p.Lys490Glu)
NM_004612.4(TGFBR1):c.487del (p.Asp163fs) rs1827276619
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) rs863223807
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) rs727503470
NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg) rs727503470
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp) rs1564161544
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp) rs1588585506
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly) rs863223819
NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro) rs1827646767
NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg) rs1827647083
NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg)
NM_005901.6(SMAD2):c.507_508del (p.Arg169fs)
NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg) rs2144300077
NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu) rs1595962708
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg) rs886038961
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu) rs1555405092
NM_005902.4(SMAD3):c.206+1G>C rs770098673
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter) rs1962537574
NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu) rs1595941823
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) rs2140188685
NM_005902.4(SMAD3):c.435_436del (p.Glu145fs)
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) rs2140294805
NM_005902.4(SMAD3):c.532+1G>C rs2140295070
NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)
NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.789del (p.Ser264fs) rs1963050712
NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs) rs2140314299
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) rs730880215
NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) rs1320208623

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