ClinVar Miner

List of variants reported as likely pathogenic for Marfan syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 842
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.4405C>T (p.Arg1469Cys) rs587782946 0.00003
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_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.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.347-2A>G rs1555405056 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr) rs363804 0.00001
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly) rs1057520617 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys) rs1161109360 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_000015.10:g.(48494255_48495122)_(48499039_48503786)del
NC_000015.10:g.(?_48470634)_(48470756_?)del
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.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.1098G>T (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) rs1597583989
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del) rs672601352
NM_000138.5(FBN1):c.1160del (p.Lys387fs)
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.1421G>T (p.Cys474Phe) rs794728166
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.1537T>C (p.Cys513Arg) rs1555400279
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.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.1664G>A (p.Cys555Tyr) rs794728172
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.1677_1678insAT (p.Gly560fs)
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser) 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.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.1807C>T (p.Gln603Ter) rs886038963
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.1823del (p.Gly608fs) rs1555399949
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg) rs1555399944
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.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly) rs1060501017
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.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.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.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.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.2146G>C (p.Gly716Arg)
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.2216G>A (p.Cys739Tyr) rs1555399378
NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys)
NM_000138.5(FBN1):c.2223C>G (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.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.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.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.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.2474del (p.Pro825fs) rs1555399202
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.2563C>T (p.Gln855Ter) rs1057519502
NM_000138.5(FBN1):c.2584T>C (p.Cys862Arg) rs2043595650
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.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.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.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.2729A>T (p.Asp910Val) rs1284769637
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.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.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.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.2948_2970del (p.Cys982_Ser983insTer) rs1555398811
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) 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.3064G>T (p.Gly1022Ter)
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.3193del (p.Glu1065fs) rs193922198
NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr) rs1555398659
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.3268C>T (p.Pro1090Ser) rs1555398633
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.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3338-2A>G rs2141293812
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.5(FBN1):c.3346G>A (p.Glu1116Lys) rs1555398582
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.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>T (p.Cys1138Phe) rs397515791
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.347-1G>C
NM_000138.5(FBN1):c.347-2A>C
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.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.3589G>C (p.Asp1197His) rs397515793
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.3599A>T (p.Glu1200Val) rs1566908956
NM_000138.5(FBN1):c.3602G>A (p.Cys1201Tyr) rs1555398413
NM_000138.5(FBN1):c.3617G>A (p.Gly1206Asp) rs1555398409
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del) rs1555398404
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.3706T>C (p.Cys1236Arg) rs1555398380
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
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.3783del (p.Glu1260_Tyr1261insTer) rs1555398282
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)
NM_000138.5(FBN1):c.3838+2T>C
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.3893dup (p.Asn1298fs) rs869025425
NM_000138.5(FBN1):c.3902G>C (p.Gly1301Ala) rs1566908083
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.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.3964G>A (p.Asp1322Asn)
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.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.4096G>A (p.Glu1366Lys) rs763449629
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.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.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.4291T>C (p.Cys1431Arg)
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>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.4367G>A (p.Cys1456Tyr) rs397515805
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.442+1G>C
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.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.4490G>A (p.Cys1497Tyr) rs1555397212
NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp) rs2043341481
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
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.454A>T (p.Ser152Cys) rs193922206
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.458del (p.Gly153fs)
NM_000138.5(FBN1):c.4602C>G (p.Cys1534Trp) rs1555397174
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.4687T>A (p.Cys1563Ser) rs1597548672
NM_000138.5(FBN1):c.4700del (p.Gly1567fs) rs1566904526
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.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.488del (p.Pro163fs) rs1555404806
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser) rs1555396998
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.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>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.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.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.5179del (p.Arg1727fs) rs1555396765
NM_000138.5(FBN1):c.5225-2A>C rs1555396639
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter) rs397515820
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.531dup (p.Glu178Ter) rs1555404800
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg) rs1597540907
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.5431G>A (p.Glu1811Lys) rs761857514
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.5453G>A (p.Cys1818Tyr) rs2141256069
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>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.554_556del (p.Pro185_Cys186delinsArg) rs1555401701
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser) rs193922214
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.5667_5668insTTGGA (p.Ile1892fs)
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.5672-1G>A rs1555395849
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser) rs1597533707
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.5721C>G (p.Asn1907Lys) rs397515826
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5734_5736del (p.Phe1912del)
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.5782T>C (p.Cys1928Arg) rs2043162224
NM_000138.5(FBN1):c.5788+1G>T rs1555395819
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.5788G>T (p.Asp1930Tyr) rs1555395820
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.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.5869C>T (p.Gln1957Ter) rs397515829
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
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.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.5959G>C (p.Gly1987Arg) rs727504642
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.6006_6012dup (p.Ser2005fs) rs193922220
NM_000138.5(FBN1):c.6012C>G (p.Tyr2004Ter)
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
NM_000138.5(FBN1):c.6013_6014insTA (p.Ser2005fs)
NM_000138.5(FBN1):c.6019C>T (p.Gln2007Ter) rs1555395641
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6037G>A (p.Asp2013Asn)
NM_000138.5(FBN1):c.6037G>C (p.Asp2013His) rs1555395638
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.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.6164-1G>C rs1060501048
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg) rs1555395267
NM_000138.5(FBN1):c.619dup (p.Thr207fs) rs1555401689
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.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.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.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.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.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6379+2T>G rs113453570
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn) rs1555395225
NM_000138.5(FBN1):c.6380-2A>C 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.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.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6483_6496+1del rs2141240279
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.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.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.6569G>T (p.Cys2190Phe) rs1566895262
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>T (p.Cys2204Phe) rs886039158
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.6617-9_6617-8inv
NM_000138.5(FBN1):c.6628T>A (p.Cys2210Ser) rs794728253
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp) rs397515836
NM_000138.5(FBN1):c.6645del (p.Leu2216fs) rs1555394928
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.6695G>A (p.Cys2232Tyr) rs1060501054
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
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.671G>T (p.Cys224Phe)
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.6739+2T>C
NM_000138.5(FBN1):c.6740-2del rs1555394783
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.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.6820T>C (p.Cys2274Arg) rs869025412
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>C (p.Cys2289Arg) rs869025413
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser) rs1566894230
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
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.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.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.6998-13A>G rs2042989627
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
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.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.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.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.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7217G>C (p.Cys2406Ser)
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.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.7259del (p.Asn2420fs) rs869025424
NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter) rs794728271
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr) rs2141226916
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.733C>T (p.Gln245Ter) rs1555401667
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs) rs1555394407
NM_000138.5(FBN1):c.7399del (p.Gln2467fs) rs2042971434
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.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.7454A>G (p.Asp2485Gly) rs1085307921
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.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.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.7541G>A (p.Gly2514Glu)
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.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7608dup (p.Ser2537fs) rs1555394206
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.7643del (p.Phe2548fs) rs1555394197
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7678del (p.Gln2560fs) rs193922235
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
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.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.7769G>A (p.Cys2590Tyr) rs869025416
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+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.7871A>G (p.Asn2624Ser) rs113935744
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.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.5(FBN1):c.799_805del (p.Gly267fs) rs1060501100
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.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg) rs1555393825
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg) rs1555393666
NM_000138.5(FBN1):c.8087del (p.Asn2696fs) rs1060501065
NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs)
NM_000138.5(FBN1):c.811T>A (p.Cys271Ser)
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.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.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.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter) rs1555393510
NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs) rs794728323
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.871G>T (p.Glu291Ter) rs1232880706
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:c.(7204+1_7205-1)_(7819+1_7820-1)del
NM_001844.5(COL2A1):c.3435+4_3435+7del
NM_003238.6(TGFB2):c.622delinsGG (p.His208fs) rs1659897581
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.