ClinVar Miner

List of variants reported as likely pathogenic for Familial thoracic aortic aneurysm and aortic dissection

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ClinVar version:
Total variants: 524
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_000090.4(COL3A1):c.1509+2T>C rs1553508039 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His) rs764203302 0.00003
NM_003480.4(MFAP5):c.340C>T (p.Arg114Ter) rs376830567 0.00003
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878 0.00002
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000071.3(CBS):c.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg) rs755952006 0.00001
NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017 0.00001
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser) rs1223008559 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser) rs397515823 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly) rs1057520617 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1471-2A>G rs1401035675 0.00001
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp) rs770974455 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His) rs751948498 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile) rs730880216 0.00001
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) rs1343295267 0.00001
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys) rs1085307496 0.00001
NC_000009.12:g.(?_99137839)_(99138109_?)del
NC_000009.12:g.(?_99142526)_(99150189_?)del
NC_000015.10:g.(?_67190393)_(67190556_?)del
NC_000015.9:g.(?_67457213)_(67462962_?)dup
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) rs760417941
NM_000090.3(COL3A1):c.2933del rs1688561668
NM_000090.3(COL3A1):c.798_799delAG
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.4(COL3A1):c.1079G>A (p.Gly360Asp)
NM_000090.4(COL3A1):c.1178G>A (p.Gly393Asp) rs1553507867
NM_000090.4(COL3A1):c.1186G>A (p.Gly396Ser)
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp) rs794728044
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.4(COL3A1):c.1294G>A (p.Gly432Ser) rs794728045
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp) rs1688258933
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser) rs886038952
NM_000090.4(COL3A1):c.1303G>T (p.Gly435Cys) rs886038952
NM_000090.4(COL3A1):c.1383_1384delinsTA (p.Lys461_Gly462delinsAsnSer) rs2153502437
NM_000090.4(COL3A1):c.1421G>T (p.Gly474Val) rs1553507991
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu) rs587779476
NM_000090.4(COL3A1):c.1608+1G>A
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp) rs2153502685
NM_000090.4(COL3A1):c.1727G>A (p.Gly576Asp) rs886038853
NM_000090.4(COL3A1):c.1761+5G>A rs397509372
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
NM_000090.4(COL3A1):c.1862_1869+5del
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu) rs1553508463
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser) rs587779433
NM_000090.4(COL3A1):c.2069G>A (p.Gly690Glu) rs587779458
NM_000090.4(COL3A1):c.2123G>A (p.Gly708Asp)
NM_000090.4(COL3A1):c.2212G>C (p.Gly738Arg)
NM_000090.4(COL3A1):c.2229+1G>A rs1576468385
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
NM_000090.4(COL3A1):c.2284G>T (p.Gly762Cys)
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=) rs587779461
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.2717G>A (p.Gly906Asp)
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys) rs587779471
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp) rs587779450
NM_000090.4(COL3A1):c.2924G>C (p.Gly975Ala)
NM_000090.4(COL3A1):c.3093+1G>T rs869312034
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp) rs587779540
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.4(COL3A1):c.3374G>A (p.Gly1125Asp)
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg) rs587779609
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys) rs587779609
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser) rs587779482
NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser) rs2153501643
NM_000090.4(COL3A1):c.528+5G>A rs794728038
NM_000090.4(COL3A1):c.528+5G>T
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.582+2_582+16del
NM_000090.4(COL3A1):c.636+1G>T
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu) rs587779596
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter) rs1393544920
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp) rs121912927
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu) rs587779604
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu) rs587779478
NM_000090.4(COL3A1):c.898-2A>G rs1553507574
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.4(COL3A1):c.997-1G>C rs587779687
NM_000090.4:c.-46_4368del
NM_000093.5(COL5A1):c.2504G>C (p.Gly835Ala) rs1554799402
NM_000093.5(COL5A1):c.4430G>A (p.Gly1477Asp)
NM_000093.5(COL5A1):c.5165dup (p.Val1723fs) rs1554726251
NM_000093.5(COL5A1):c.54del (p.Leu19fs)
NM_000093.5(COL5A1):c.655-1G>C rs1554787526
NM_000093.5(COL5A1):c.655-2A>T rs786205101
NM_000138.4:c.1783_1784insALU
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter) rs886039550
NM_000138.5(FBN1):c.1074C>G (p.Cys358Trp)
NM_000138.5(FBN1):c.1117del (p.Ala373fs)
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.5(FBN1):c.1147_1147+9del
NM_000138.5(FBN1):c.1148-1G>C
NM_000138.5(FBN1):c.1169_1170del (p.Ser390fs) rs2141331190
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr) rs794728166
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe) rs794728166
NM_000138.5(FBN1):c.1422T>G (p.Cys474Trp) rs1555400378
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1469-3_1469-1del rs2043779232
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.164+1G>C
NM_000138.5(FBN1):c.164G>C (p.Gly55Ala)
NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg) rs2043746138
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu) rs1060501041
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr) rs2043732180
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn) rs1555399943
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1909T>A (p.Cys637Ser)
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.5(FBN1):c.213del (p.Gly70_Trp71insTer) rs2140737436
NM_000138.5(FBN1):c.2168-1G>T rs1555399387
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2200T>A (p.Cys734Ser)
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys) rs794728188
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.5(FBN1):c.2294-1G>A
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.5(FBN1):c.2327G>T (p.Cys776Phe)
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) rs397515766
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr) rs1555399271
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.2375G>T (p.Cys792Phe) rs886038984
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.2419+1G>A rs1555399257
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.5(FBN1):c.2463C>G (p.Cys821Trp) rs1555399205
NM_000138.5(FBN1):c.247+1G>T rs25404
NM_000138.5(FBN1):c.2488T>A (p.Cys830Ser) rs397515773
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)
NM_000138.5(FBN1):c.2539+1G>T rs794728192
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe) rs794728193
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr) rs2043594915
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2666dup (p.Cys890fs) rs2043594458
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn) rs193922193
NM_000138.5(FBN1):c.2729-2A>G rs113813525
NM_000138.5(FBN1):c.2855-1G>C rs112202622
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.2945G>T (p.Cys982Phe) rs1057524458
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu) rs137854477
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3125G>A (p.Gly1042Asp) rs1555398680
NM_000138.5(FBN1):c.3274del (p.Asp1092fs) rs397515788
NM_000138.5(FBN1):c.3290G>T (p.Cys1097Phe) rs1555398627
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3449dup (p.Ser1151fs)
NM_000138.5(FBN1):c.347-3_442+4del rs2140717963
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr) rs1597562812
NM_000138.5(FBN1):c.3584G>A (p.Cys1195Tyr) rs886038802
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn) rs397515793
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del) rs1555398404
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser) rs137854458
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)
NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp) rs886039492
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.3958T>A (p.Cys1320Ser)
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg) rs1566906506
NM_000138.5(FBN1):c.408C>G (p.Cys136Trp) rs1555405039
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr) rs2141279869
NM_000138.5(FBN1):c.4204T>C (p.Cys1402Arg)
NM_000138.5(FBN1):c.4205G>C (p.Cys1402Ser)
NM_000138.5(FBN1):c.4206T>G (p.Cys1402Trp)
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.5(FBN1):c.4330T>C (p.Cys1444Arg)
NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe) rs1555397419
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr) rs878853682
NM_000138.5(FBN1):c.4366T>G (p.Cys1456Gly)
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.4409G>A (p.Cys1470Tyr) rs2043365537
NM_000138.5(FBN1):c.4459+1del
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys) rs1060501076
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg) rs1555404819
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) rs730880102
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr) rs886039120
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.5(FBN1):c.4601G>C (p.Cys1534Ser) rs112559031
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg) rs193922207
NM_000138.5(FBN1):c.4700del (p.Gly1567fs) rs1566904526
NM_000138.5(FBN1):c.4708_4722delinsCA (p.Trp1570fs) rs2141272280
NM_000138.5(FBN1):c.4780G>T (p.Gly1594Cys) rs2043316188
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr) rs1555404810
NM_000138.5(FBN1):c.4817-2A>G rs1555397008
NM_000138.5(FBN1):c.4849dup (p.Cys1617fs)
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.5(FBN1):c.4927dup (p.Thr1643fs) rs1566903914
NM_000138.5(FBN1):c.4937G>C (p.Cys1646Ser)
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.5(FBN1):c.502T>C (p.Cys168Arg) rs2044515247
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5155T>C (p.Cys1719Arg) rs886038838
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5371T>A (p.Cys1791Ser)
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5441del (p.Asn1814fs) rs2043210418
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)
NM_000138.5(FBN1):c.5465_5484del (p.Ala1822fs) rs2141256009
NM_000138.5(FBN1):c.5504_5505del (p.Asp1834_Cys1835insTer) rs1566900492
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.5(FBN1):c.5542_5545+11del
NM_000138.5(FBN1):c.557G>A (p.Cys186Tyr)
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys) rs1057521101
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.5(FBN1):c.5698T>A (p.Cys1900Ser) rs1555395840
NM_000138.5(FBN1):c.5700T>G (p.Cys1900Trp)
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn) rs1555395820
NM_000138.5(FBN1):c.5840G>T (p.Cys1947Phe) rs397515828
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg) rs1555395745
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr) rs111239111
NM_000138.5(FBN1):c.5912G>T (p.Cys1971Phe)
NM_000138.5(FBN1):c.5917+5_5917+29del
NM_000138.5(FBN1):c.5917+6T>C rs1555395742
NM_000138.5(FBN1):c.5918-2A>G rs869025418
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.5964del (p.Cys1989fs) rs1566898120
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6037+1G>A rs1064796636
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys) rs2141245531
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.6049T>G (p.Cys2017Gly)
NM_000138.5(FBN1):c.6119G>T (p.Cys2040Phe)
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr) rs1060501044
NM_000138.5(FBN1):c.6247T>C (p.Cys2083Arg)
NM_000138.5(FBN1):c.626G>A (p.Cys209Tyr) rs1555401687
NM_000138.5(FBN1):c.6313+3A>T
NM_000138.5(FBN1):c.6314-1G>A
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg) rs363815
NM_000138.5(FBN1):c.6350_6360del (p.Ile2117fs) rs2141240851
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
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.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6466G>T (p.Gly2156Cys)
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg) rs794728253
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6662G>T (p.Cys2221Phe) rs137854460
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.5(FBN1):c.6740-2del rs1555394783
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg) rs112836174
NM_000138.5(FBN1):c.6773G>A (p.Cys2258Tyr) rs886039047
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys) rs2141232534
NM_000138.5(FBN1):c.6821G>C (p.Cys2274Ser)
NM_000138.5(FBN1):c.6822C>G (p.Cys2274Trp)
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe) rs1566894230
NM_000138.5(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.5(FBN1):c.6991T>A (p.Cys2331Ser) rs886038894
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7299C>G (p.Tyr2433Ter) rs1566892872
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr) rs1597516347
NM_000138.5(FBN1):c.7363T>C (p.Cys2455Arg) rs886038930
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr) rs1555394400
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg) rs1555394399
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp) rs1555394397
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr) rs1555394390
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly) rs1060501055
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp) rs750331217
NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg) rs1566891701
NM_000138.5(FBN1):c.7649G>C (p.Cys2550Ser) rs1555394196
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg) rs1566891668
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg) rs2042934926
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr) rs1555394149
NM_000138.5(FBN1):c.7742G>T (p.Cys2581Phe) rs1555394149
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys) rs1566891436
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp) rs397515857
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.5(FBN1):c.7820-1G>A rs1597509836
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) rs794728337
NM_000138.5(FBN1):c.7865G>A (p.Cys2622Tyr) rs1555393880
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu) rs1555393875
NM_000138.5(FBN1):c.7886A>G (p.Tyr2629Cys)
NM_000138.5(FBN1):c.7897T>C (p.Cys2633Arg) rs1555393871
NM_000138.5(FBN1):c.8003G>A (p.Gly2668Asp) rs1555393837
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.812G>A (p.Cys271Tyr)
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp) rs765692335
NM_000138.5(FBN1):c.8504dup (p.Leu2836fs) rs1555393516
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn) rs1597506544
NM_000138.5(FBN1):c.8607del (p.Leu2869fs)
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000138.5(FBN1):c.950del (p.Pro317fs) rs1566919637
NM_000138.5(FBN1):c.991del (p.Val331fs)
NM_000214.3(JAG1):c.2114-5_2119delinsACACACCACCTGCACGTG rs2122603096
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser) rs1553517181
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.415G>C (p.Gly139Arg) rs1557179684
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) rs112901682
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr) rs869025352
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp) rs1845899655
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001613.4(ACTA2):c.766C>T (p.Arg256Cys) rs886038852
NM_001613.4(ACTA2):c.767G>A (p.Arg256His) rs766734961
NM_001613.4(ACTA2):c.773G>A (p.Arg258His) rs121434527
NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp) rs1554123064
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3724+1G>A
NM_001999.4(FBN2):c.3724+2T>G
NM_001999.4(FBN2):c.4340G>T (p.Cys1447Phe)
NM_001999.4(FBN2):c.4346-2A>C
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr) rs1554075372
NM_001999.4(FBN2):c.6638-2A>C rs886039200
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002474.3(MYH11):c.1470dup (p.Met491fs) rs2151274939
NM_002474.3(MYH11):c.1A>G (p.Met1Val) rs1555459260
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.4578+1G>A rs397514037
NM_002474.3(MYH11):c.4578+1G>C rs397514037
NM_003238.6(TGFB2):c.1101T>G (p.Tyr367Ter)
NM_003238.6(TGFB2):c.1139G>T (p.Cys380Phe) rs1553303745
NM_003238.6(TGFB2):c.346+1G>T rs1553292145
NM_003238.6(TGFB2):c.450_451del (p.Arg150fs)
NM_003238.6(TGFB2):c.817A>T (p.Lys273Ter)
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=) rs1555360212
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) rs2035418540
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1188dup (p.Lys397fs)
NM_003239.5(TGFB3):c.310G>T (p.Glu104Ter)
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.5(TGFB3):c.696dup (p.Gln233fs)
NM_003239.5(TGFB3):c.884dup (p.Gln296fs)
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) rs1555360368
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.6(TGFBR2):c.1007A>C (p.Tyr336Ser)
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.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1130A>C (p.His377Pro)
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser) rs1575158079
NM_003242.6(TGFBR2):c.1152T>A (p.Asn384Lys) rs193922661
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1168G>T (p.Asp390Tyr)
NM_003242.6(TGFBR2):c.1181G>A (p.Cys394Tyr) rs1553630289
NM_003242.6(TGFBR2):c.1184T>C (p.Leu395Pro)
NM_003242.6(TGFBR2):c.1187G>A (p.Cys396Tyr)
NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn) rs863223845
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro) rs2125437095
NM_003242.6(TGFBR2):c.1255G>C (p.Val419Leu)
NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu) rs863223847
NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val) rs1553630426
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
NM_003242.6(TGFBR2):c.1298G>C (p.Arg433Thr) rs1699392675
NM_003242.6(TGFBR2):c.1314T>G (p.Asn438Lys) rs772490613
NM_003242.6(TGFBR2):c.1324T>C (p.Phe442Leu) rs2125439063
NM_003242.6(TGFBR2):c.1343A>G (p.Tyr448Cys)
NM_003242.6(TGFBR2):c.1378C>G (p.Arg460Gly) rs104893811
NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs) rs1559472349
NM_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg) rs1575165264
NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter) rs1575165272
NM_003242.6(TGFBR2):c.1512G>C (p.Trp504Cys)
NM_003242.6(TGFBR2):c.1524+2T>C
NM_003242.6(TGFBR2):c.1525-1G>A rs1699706945
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1529del (p.Ile510fs) rs878854611
NM_003242.6(TGFBR2):c.1531C>T (p.Gln511Ter) rs1060501984
NM_003242.6(TGFBR2):c.1555G>A (p.Glu519Lys) rs2125455181
NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter) rs1553631968
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1576G>A (p.Glu526Lys) rs121918714
NM_003242.6(TGFBR2):c.1579G>A (p.Ala527Thr) rs2125455285
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1589C>T (p.Thr530Ile)
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.1597T>C (p.Cys533Arg)
NM_003242.6(TGFBR2):c.1598G>A (p.Cys533Tyr)
NM_003242.6(TGFBR2):c.1599T>A (p.Cys533Ter)
NM_003242.6(TGFBR2):c.1603del (p.Ala535fs) rs1699709401
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.1610G>A (p.Arg537His) rs1057524810
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His) rs1553630174
NM_003242.6(TGFBR2):c.914T>C (p.Leu305Pro)
NM_003480.4(MFAP5):c.59-1G>C
NM_004612.4(TGFBR1):c.1040dup (p.Cys347fs)
NM_004612.4(TGFBR1):c.1063G>A (p.Ala355Thr)
NM_004612.4(TGFBR1):c.1124C>G (p.Thr375Arg) rs1827743139
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn) rs2118827924
NM_004612.4(TGFBR1):c.1228_1255+1dup
NM_004612.4(TGFBR1):c.1303G>C (p.Asp435His) rs1554702463
NM_004612.4(TGFBR1):c.1311_1313del (p.Val438del) rs2118840018
NM_004612.4(TGFBR1):c.1386dup (p.Ala463fs) rs2118841181
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) rs886039176
NM_004612.4(TGFBR1):c.343+1G>A
NM_004612.4(TGFBR1):c.344-2A>G
NM_004612.4(TGFBR1):c.574+1G>A
NM_004612.4(TGFBR1):c.575-1G>C rs2118707001
NM_004612.4(TGFBR1):c.709A>G (p.Arg237Gly) rs863223813
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.4(TGFBR1):c.759G>A (p.Met253Ile)
NM_004612.4(TGFBR1):c.791CAG[1] (p.Ala265del) rs1827496704
NM_004612.4(TGFBR1):c.860C>A (p.Ser287Tyr) rs863223832
NM_004612.4(TGFBR1):c.943C>T (p.His315Tyr) rs2118780524
NM_004612.4(TGFBR1):c.973+1G>A rs863223818
NM_004612.4(TGFBR1):c.974-1G>A rs2118803591
NM_004612.4(TGFBR1):c.974-2A>G rs1554701881
NM_004612.4(TGFBR1):c.980C>T (p.Pro327Leu)
NM_005902.4(SMAD3):c.1009+1G>A rs1963180892
NM_005902.4(SMAD3):c.1010-1G>C rs2140323368
NM_005902.4(SMAD3):c.106A>T (p.Lys36Ter)
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_005902.4(SMAD3):c.1139G>A (p.Trp380Ter)
NM_005902.4(SMAD3):c.1155-1G>C rs1963331116
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs) rs1595965925
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn) rs1595965957
NM_005902.4(SMAD3):c.1247C>T (p.Ser416Phe) rs1963334285
NM_005902.4(SMAD3):c.1268G>T (p.Ser423Ile)
NM_005902.4(SMAD3):c.1A>C (p.Met1Leu) rs1555405092
NM_005902.4(SMAD3):c.207-1G>C rs1962532975
NM_005902.4(SMAD3):c.209C>A (p.Ser70Tyr) rs2140293635
NM_005902.4(SMAD3):c.228G>T (p.Gln76His) rs886041046
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.346AAG[1] (p.Lys117del) rs2140294164
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu) rs886039050
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.431_432del (p.Thr144fs) rs2140294762
NM_005902.4(SMAD3):c.532+1G>C rs2140295070
NM_005902.4(SMAD3):c.533-1G>A rs1350129614
NM_005902.4(SMAD3):c.607+1G>T rs1060500771
NM_005902.4(SMAD3):c.659-2A>G
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs) rs1566999423
NM_005902.4(SMAD3):c.772G>C (p.Asp258His) rs863223738
NM_005902.4(SMAD3):c.772_797delinsT (p.Asp258fs)
NM_005902.4(SMAD3):c.780C>G (p.Phe260Leu) rs1250669634
NM_005902.4(SMAD3):c.788C>G (p.Pro263Arg) rs387906855
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.814G>C (p.Gly272Arg) rs1057524127
NM_005902.4(SMAD3):c.848T>A (p.Val283Glu) rs1566999601
NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly) rs1566999610
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.872-1G>A rs1555413988
NM_005902.4(SMAD3):c.872-2A>G
NM_005902.4(SMAD3):c.872-2_881del
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) rs1320208623
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_024817.3(THSD4):c.1533+1G>C
NM_030777.4(SLC2A10):c.483del (p.Trp162fs) rs2123045187
NM_030777.4(SLC2A10):c.636_648del (p.Arg213fs)
NM_030777.4(SLC2A10):c.761_762del (p.Ala254fs)
NM_053025.4(MYLK):c.2390+2T>C rs1553808296
NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter) rs387906782
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781

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