NM_053025.4(MYLK):c.1486C>G (p.Leu496Val)
|
rs9833275
|
0.99852
|
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)
|
rs1516446
|
0.99509
|
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=)
|
rs865358
|
0.94358
|
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)
|
rs601314
|
0.89787
|
NM_000138.5(FBN1):c.*730G>T
|
rs13598
|
0.89602
|
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser)
|
rs9840993
|
0.88650
|
NM_005902.4(SMAD3):c.309A>G (p.Leu103=)
|
rs1065080
|
0.87365
|
NM_000138.5(FBN1):c.*2158G>A
|
rs11070641
|
0.75090
|
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)
|
rs190450
|
0.69111
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
NM_000138.5(FBN1):c.*1575T>G
|
rs4775760
|
0.68134
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
NC_000003.12:g.30605668A>G
|
rs3087465
|
0.64037
|
NM_000138.5(FBN1):c.*314C>T
|
rs1042078
|
0.63415
|
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)
|
rs4489420
|
0.62688
|
NM_053025.4(MYLK):c.1005C>T (p.Thr335=)
|
rs4678047
|
0.59203
|
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)
|
rs2229974
|
0.58641
|
NM_000093.5(COL5A1):c.1432-5T>C
|
rs3128612
|
0.57159
|
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=)
|
rs40305
|
0.53400
|
NM_005911.6(MAT2A):c.792C>G (p.Arg264=)
|
rs1078004
|
0.51750
|
NM_002474.3(MYH11):c.1743T>C (p.Ala581=)
|
rs2272554
|
0.49695
|
NM_017617.5(NOTCH1):c.2588-4G>A
|
rs3125001
|
0.48926
|
NM_002474.3(MYH11):c.1249-11G>C
|
rs2280764
|
0.46907
|
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)
|
rs2075511
|
0.45713
|
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)
|
rs1050162
|
0.44262
|
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)
|
rs1050163
|
0.44235
|
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=)
|
rs10521
|
0.43502
|
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=)
|
rs2229971
|
0.42989
|
NM_016938.5(EFEMP2):c.276C>T (p.His92=)
|
rs633800
|
0.39212
|
NM_000093.5(COL5A1):c.738C>T (p.Thr246=)
|
rs3124299
|
0.34823
|
NM_019055.6(ROBO4):c.161A>G (p.Gln54Arg)
|
rs59648931
|
0.34382
|
NM_003242.6(TGFBR2):c.263+7A>G
|
rs1155705
|
0.34308
|
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=)
|
rs1130529
|
0.32745
|
NM_005902.4(SMAD3):c.*2227G>A
|
rs11638476
|
0.31592
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_003242.6(TGFBR2):c.95-1332C>T
|
rs17838698
|
0.30717
|
NM_012186.3(FOXE3):c.510C>T (p.Ala170=)
|
rs34082359
|
0.30139
|
NM_000071.3(CBS):c.699C>T (p.Tyr233=)
|
rs234706
|
0.28613
|
NM_004612.4(TGFBR1):c.*4578T>G
|
rs1590
|
0.28501
|
NM_004612.4(TGFBR1):c.*884A>G
|
rs334348
|
0.28211
|
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)
|
rs1801184
|
0.27758
|
NM_004612.4(TGFBR1):c.*2800G>A
|
rs334349
|
0.27616
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_002474.3(MYH11):c.2472C>T (p.Ala824=)
|
rs1050113
|
0.26411
|
NM_003242.6(TGFBR2):c.455-4T>A
|
rs11466512
|
0.25954
|
NM_004612.4(TGFBR1):c.*2103_*2104insG
|
rs36064078
|
0.25780
|
NM_000138.5(FBN1):c.1875T>C (p.Asn625=)
|
rs25458
|
0.25074
|
NM_000302.4(PLOD1):c.294C>T (p.Phe98=)
|
rs7529452
|
0.24445
|
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=)
|
rs1254392
|
0.24353
|
NM_000090.4(COL3A1):c.1978-11C>T
|
rs13306272
|
0.23521
|
NC_000003.12:g.30694445G>A
|
rs744751
|
0.22965
|
NM_004612.4(TGFBR1):c.1255+24G>A
|
rs334354
|
0.22164
|
NM_005902.4(SMAD3):c.-15G>A
|
rs1061427
|
0.22024
|
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr)
|
rs16967494
|
0.21955
|
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=)
|
rs820463
|
0.21770
|
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
NM_005902.4(SMAD3):c.*2282C>T
|
rs12595334
|
0.19274
|
NM_053025.4(MYLK):c.62C>A (p.Pro21His)
|
rs28497577
|
0.17349
|
NM_004612.4(TGFBR1):c.*69A>G
|
rs868
|
0.17222
|
NM_002317.7(LOX):c.473G>A (p.Arg158Gln)
|
rs1800449
|
0.16973
|
NM_004612.4(TGFBR1):c.*3286G>C
|
rs420549
|
0.16407
|
NM_000138.5(FBN1):c.3464-5G>A
|
rs11853943
|
0.16287
|
NM_000090.4(COL3A1):c.1816-14G>C
|
rs7579815
|
0.15982
|
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)
|
rs7579903
|
0.15955
|
NM_053025.4(MYLK):c.782T>C (p.Val261Ala)
|
rs3796164
|
0.15515
|
NM_001999.4(FBN2):c.111G>A (p.Pro37=)
|
rs55715053
|
0.14249
|
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)
|
rs2273285
|
0.14145
|
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=)
|
rs3827848
|
0.14130
|
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=)
|
rs10070365
|
0.13267
|
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr)
|
rs2235491
|
0.12316
|
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=)
|
rs2229975
|
0.12249
|
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro)
|
rs3732486
|
0.11664
|
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val)
|
rs32209
|
0.11103
|
NM_003242.6(TGFBR2):c.-128C>G
|
rs2306856
|
0.10667
|
NM_001999.4(FBN2):c.183C>G (p.Pro61=)
|
rs73348287
|
0.10581
|
NM_002474.3(MYH11):c.417C>T (p.Val139=)
|
rs1050111
|
0.10480
|
NM_003242.6(TGFBR2):c.*747C>G
|
rs11466531
|
0.10463
|
NM_001999.4(FBN2):c.5823T>C (p.His1941=)
|
rs11955288
|
0.09446
|
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)
|
rs10197596
|
0.09320
|
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)
|
rs10208525
|
0.09281
|
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=)
|
rs12907
|
0.08987
|
NM_002474.3(MYH11):c.987C>T (p.Thr329=)
|
rs4781689
|
0.08684
|
NM_006258.4(PRKG1):c.479-9C>T
|
rs45615337
|
0.08494
|
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)
|
rs41306391
|
0.08110
|
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=)
|
rs28505375
|
0.07791
|
NM_004612.4(TGFBR1):c.*4489T>C
|
rs7850895
|
0.07302
|
NM_002474.3(MYH11):c.2208C>T (p.Ile736=)
|
rs12931799
|
0.07252
|
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu)
|
rs2291628
|
0.07011
|
NM_001999.4(FBN2):c.7013-5T>C
|
rs28763927
|
0.06995
|
NM_000138.5(FBN1):c.156G>T (p.Ala52=)
|
rs25398
|
0.06859
|
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu)
|
rs3732487
|
0.06754
|
NM_002474.3(MYH11):c.2079C>T (p.Phe693=)
|
rs34287137
|
0.06287
|
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg)
|
rs41283344
|
0.06229
|
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala)
|
rs75370906
|
0.06202
|
NM_002474.3(MYH11):c.2061C>T (p.Ser687=)
|
rs880071
|
0.06148
|
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)
|
rs61729545
|
0.06122
|
NM_000138.4(FBN1):c.-388C>T
|
rs3825792
|
0.06008
|
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=)
|
rs2230898
|
0.05658
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_006258.4(PRKG1):c.1008T>C (p.Phe336=)
|
rs56047641
|
0.05131
|
NM_003242.6(TGFBR2):c.*1521G>A
|
rs11466533
|
0.04903
|
NM_003242.6(TGFBR2):c.*2085T>A
|
rs11466537
|
0.04867
|
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=)
|
rs12172926
|
0.04612
|
NM_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
NM_002474.3(MYH11):c.135C>T (p.Phe45=)
|
rs28570191
|
0.04299
|
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)
|
rs16967510
|
0.03954
|
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser)
|
rs34997494
|
0.03846
|
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)
|
rs2228559
|
0.03652
|
NM_053025.4(MYLK):c.411C>G (p.Ser137=)
|
rs55760507
|
0.03602
|
NM_017668.3(NDE1):c.948-5739G>A
|
rs34839877
|
0.03595
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)
|
rs35830636
|
0.03364
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=)
|
rs78511105
|
0.03168
|
NM_000138.5(FBN1):c.*2040T>C
|
rs73390272
|
0.03120
|
NM_000138.5(FBN1):c.*1959G>A
|
rs12050562
|
0.03119
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=)
|
rs35295469
|
0.03116
|
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)
|
rs2228048
|
0.03013
|
NM_002474.3(MYH11):c.792T>C (p.Tyr264=)
|
rs34341838
|
0.03006
|
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)
|
rs2228047
|
0.02974
|
NM_017668.3(NDE1):c.947+7126G>C
|
rs1875184
|
0.02929
|
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=)
|
rs11574911
|
0.02871
|
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)
|
rs363836
|
0.02755
|
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala)
|
rs6018008
|
0.02748
|
NM_000302.4(PLOD1):c.177C>T (p.Gly59=)
|
rs34032489
|
0.02651
|
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)
|
rs34878020
|
0.02621
|
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=)
|
rs2229102
|
0.02537
|
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=)
|
rs41310207
|
0.02534
|
NM_019055.6(ROBO4):c.1239A>G (p.Pro413=)
|
rs11820142
|
0.02519
|
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)
|
rs34383505
|
0.02500
|
NM_053025.4(MYLK):c.4194C>T (p.His1398=)
|
rs17298941
|
0.02481
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_004612.4(TGFBR1):c.*3225G>A
|
rs3739798
|
0.02363
|
NM_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_019055.6(ROBO4):c.1687C>T (p.Leu563Phe)
|
rs59946255
|
0.02242
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
NM_000302.4(PLOD1):c.1788G>T (p.Val596=)
|
rs35460537
|
0.02126
|
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val)
|
rs7348121
|
0.02113
|
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=)
|
rs879691
|
0.02109
|
NM_006258.4(PRKG1):c.888T>C (p.Leu296=)
|
rs113994747
|
0.02057
|
NM_000138.5(FBN1):c.*57A>G
|
rs363849
|
0.01992
|
NM_000138.5(FBN1):c.5672-63G>T
|
rs363800
|
0.01987
|
NM_019055.6(ROBO4):c.2006G>A (p.Arg669Gln)
|
rs4408324
|
0.01905
|
NM_000302.4(PLOD1):c.540G>A (p.Gln180=)
|
rs35958757
|
0.01887
|
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)
|
rs61751557
|
0.01860
|
NM_005901.6(SMAD2):c.828G>A (p.Ser276=)
|
rs1051066
|
0.01853
|
NM_019055.6(ROBO4):c.1138C>T (p.Arg380Cys)
|
rs77066875
|
0.01851
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)
|
rs41272837
|
0.01840
|
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly)
|
rs79849424
|
0.01835
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=)
|
rs2229970
|
0.01759
|
NM_006258.4(PRKG1):c.408G>A (p.Pro136=)
|
rs55806342
|
0.01754
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)
|
rs78905646
|
0.01586
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)
|
rs80302667
|
0.01481
|
NM_017617.5(NOTCH1):c.*6G>A
|
rs73668310
|
0.01480
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
NM_003238.6(TGFB2):c.643+7A>C
|
rs7531245
|
0.01418
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys)
|
rs3732485
|
0.01370
|
NM_003036.4(SKI):c.99C>G (p.Gly33=)
|
rs200019352
|
0.01364
|
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=)
|
rs11648119
|
0.01341
|
NM_000138.5(FBN1):c.*1368A>G
|
rs77212138
|
0.01328
|
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
NM_000093.5(COL5A1):c.2799+4T>C
|
rs75815945
|
0.01279
|
NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr)
|
rs34263860
|
0.01232
|
NM_005744.5(ARIH1):c.633C>T (p.Cys211=)
|
rs76918861
|
0.01200
|
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=)
|
rs2229973
|
0.01198
|
NM_003036.4(SKI):c.294C>T (p.Thr98=)
|
rs115746142
|
0.01188
|
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)
|
rs61729481
|
0.01170
|
NM_002474.3(MYH11):c.3651+5del
|
rs201404398
|
0.01163
|
NM_017617.5(NOTCH1):c.2664C>T (p.His888=)
|
rs61751548
|
0.01162
|
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=)
|
rs4252345
|
0.01156
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
NM_002474.3(MYH11):c.2412-9C>A
|
rs148682361
|
0.01132
|
NM_000090.4(COL3A1):c.3525+19del
|
rs138061246
|
0.01120
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser)
|
rs35156360
|
0.01032
|
NM_002474.3(MYH11):c.387A>G (p.Lys129=)
|
rs78754138
|
0.01024
|
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=)
|
rs8046180
|
0.01019
|
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)
|
rs115570272
|
0.01007
|
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=)
|
rs3812596
|
0.01000
|
NM_001999.4(FBN2):c.2778C>T (p.Ala926=)
|
rs28763948
|
0.00992
|
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)
|
rs148331061
|
0.00992
|
NM_003036.4(SKI):c.456C>T (p.Arg152=)
|
rs149898447
|
0.00976
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=)
|
rs34152221
|
0.00938
|
NM_019055.6(ROBO4):c.957C>T (p.Tyr319=)
|
rs75488833
|
0.00908
|
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)
|
rs2229968
|
0.00898
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
NM_030777.4(SLC2A10):c.1288+10G>A
|
rs76315093
|
0.00869
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)
|
rs11574889
|
0.00854
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)
|
rs61729558
|
0.00781
|
NM_005911.6(MAT2A):c.406-19G>A
|
rs114500620
|
0.00774
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)
|
rs201354526
|
0.00754
|
NM_053025.4(MYLK):c.383C>T (p.Ala128Val)
|
rs143896146
|
0.00747
|
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=)
|
rs112377790
|
0.00746
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_000090.4(COL3A1):c.583-8C>T
|
rs10166835
|
0.00713
|
NM_000393.5(COL5A2):c.249C>T (p.Ala83=)
|
rs142388534
|
0.00687
|
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=)
|
rs11574872
|
0.00685
|
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=)
|
rs61737941
|
0.00682
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
NM_017668.3(NDE1):c.948-3356G>A
|
rs142108062
|
0.00664
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)
|
rs80340744
|
0.00645
|
NM_017617.5(NOTCH1):c.5168-10G>A
|
rs199903655
|
0.00645
|
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=)
|
rs61751490
|
0.00638
|
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr)
|
rs142835596
|
0.00637
|
NM_017668.3(NDE1):c.948-6839G>A
|
rs183176702
|
0.00636
|
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)
|
rs34119447
|
0.00635
|
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=)
|
rs61737708
|
0.00634
|
NM_003036.4(SKI):c.1974C>T (p.Arg658=)
|
rs201895384
|
0.00623
|
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)
|
rs41263773
|
0.00608
|
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)
|
rs141159831
|
0.00600
|
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)
|
rs76756898
|
0.00599
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)
|
rs114832250
|
0.00587
|
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=)
|
rs141467675
|
0.00575
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu)
|
rs9844788
|
0.00558
|
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)
|
rs111309246
|
0.00557
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
NM_000138.5(FBN1):c.1029G>A (p.Gly343=)
|
rs75655780
|
0.00545
|
NM_002474.3(MYH11):c.1419G>A (p.Gln473=)
|
rs61734198
|
0.00535
|
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly)
|
rs115242287
|
0.00534
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=)
|
rs61730051
|
0.00522
|
NM_006258.4(PRKG1):c.1080T>C (p.Tyr360=)
|
rs141218982
|
0.00519
|
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=)
|
rs114974138
|
0.00514
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
NM_017668.3(NDE1):c.948-7059C>G
|
rs148691719
|
0.00511
|
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=)
|
rs61751486
|
0.00503
|
NM_019055.6(ROBO4):c.2326C>T (p.Arg776Cys)
|
rs138481093
|
0.00500
|
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)
|
rs56056823
|
0.00499
|
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser)
|
rs61733294
|
0.00484
|
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val)
|
rs35176378
|
0.00480
|
NM_000393.5(COL5A2):c.2716-4C>T
|
rs111644889
|
0.00479
|
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)
|
rs143654474
|
0.00477
|
NM_000138.5(FBN1):c.*1084T>C
|
rs3803350
|
0.00464
|
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)
|
rs113964173
|
0.00462
|
NM_003239.5(TGFB3):c.39C>T (p.Ala13=)
|
rs11466415
|
0.00461
|
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)
|
rs281865461
|
0.00458
|
NM_000090.4(COL3A1):c.2022+5T>C
|
rs41263765
|
0.00448
|
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)
|
rs41263751
|
0.00443
|
NM_053025.4(MYLK):c.652C>T (p.Leu218=)
|
rs113035707
|
0.00441
|
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg)
|
rs111256888
|
0.00440
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)
|
rs61751545
|
0.00435
|
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=)
|
rs148293104
|
0.00434
|
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)
|
rs35759441
|
0.00430
|
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=)
|
rs34990188
|
0.00411
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln)
|
rs41366751
|
0.00406
|
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
|
rs76371972
|
0.00404
|
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly)
|
rs77323602
|
0.00404
|
NM_017617.5(NOTCH1):c.62-8C>T
|
rs202023246
|
0.00401
|
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)
|
rs61751488
|
0.00398
|
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)
|
rs61729495
|
0.00394
|
NM_019055.6(ROBO4):c.546C>T (p.Pro182=)
|
rs143174483
|
0.00381
|
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)
|
rs61751540
|
0.00377
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala)
|
rs74354225
|
0.00370
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=)
|
rs139155480
|
0.00363
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)
|
rs552420470
|
0.00350
|
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)
|
rs2229817
|
0.00346
|
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)
|
rs2234462
|
0.00344
|
NM_017617.5(NOTCH1):c.2207+10G>A
|
rs191892426
|
0.00343
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=)
|
rs28763922
|
0.00339
|
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)
|
rs116316039
|
0.00334
|
NM_002317.7(LOX):c.225C>G (p.Ala75=)
|
rs2278226
|
0.00333
|
NM_012186.3(FOXE3):c.601G>A (p.Val201Met)
|
rs530072475
|
0.00329
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_000138.5(FBN1):c.2678-15C>T
|
rs181681840
|
0.00324
|
NM_019055.6(ROBO4):c.1817G>A (p.Arg606His)
|
rs149507368
|
0.00324
|
NM_003036.4(SKI):c.1410C>T (p.Pro470=)
|
rs150985728
|
0.00322
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=)
|
rs201985795
|
0.00314
|
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=)
|
rs138168272
|
0.00312
|
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=)
|
rs113634293
|
0.00308
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_001613.4(ACTA2):c.417G>A (p.Gln139=)
|
rs111265233
|
0.00305
|
NM_000138.5(FBN1):c.2055C>T (p.Cys685=)
|
rs140603
|
0.00304
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp)
|
rs145067866
|
0.00297
|
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=)
|
rs35320927
|
0.00289
|
NM_000093.5(COL5A1):c.240C>T (p.Asp80=)
|
rs79724538
|
0.00288
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)
|
rs143443499
|
0.00283
|
NM_053025.4(MYLK):c.984G>A (p.Ser328=)
|
rs115018449
|
0.00277
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)
|
rs149566621
|
0.00257
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
NM_002474.3(MYH11):c.453G>A (p.Pro151=)
|
rs61734199
|
0.00242
|
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)
|
rs113154524
|
0.00240
|
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)
|
rs61751536
|
0.00238
|
NM_005911.6(MAT2A):c.108A>G (p.Gln36=)
|
rs115257622
|
0.00232
|
NM_003242.6(TGFBR2):c.1525-8C>T
|
rs11466530
|
0.00230
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=)
|
rs138573101
|
0.00226
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_005911.6(MAT2A):c.501A>G (p.Leu167=)
|
rs75623534
|
0.00220
|
NM_002474.3(MYH11):c.3652-6C>T
|
rs193922630
|
0.00219
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
NM_005911.6(MAT2A):c.318G>T (p.Val106=)
|
rs72940560
|
0.00215
|
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=)
|
rs115324990
|
0.00207
|
NM_000071.3(CBS):c.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
NM_005911.6(MAT2A):c.952-19G>A
|
rs116037832
|
0.00203
|
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile)
|
rs142220417
|
0.00197
|
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln)
|
rs35962301
|
0.00195
|
NM_053025.4(MYLK):c.4620-6C>T
|
rs113607507
|
0.00195
|
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)
|
rs113194608
|
0.00194
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=)
|
rs376744729
|
0.00178
|
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)
|
rs3812602
|
0.00175
|
NM_002474.3(MYH11):c.1848C>T (p.Ala616=)
|
rs112834652
|
0.00172
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
NM_003036.4(SKI):c.2184G>C (p.Pro728=)
|
rs543584871
|
0.00167
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)
|
rs140818646
|
0.00166
|
NM_030777.4(SLC2A10):c.-15C>T
|
rs377142129
|
0.00166
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
NM_000138.5(FBN1):c.2420-8T>C
|
rs140582
|
0.00163
|
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
|
rs116003670
|
0.00162
|
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)
|
rs2271683
|
0.00158
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
NM_002474.3(MYH11):c.2961C>T (p.Ile987=)
|
rs137988790
|
0.00155
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_004612.4(TGFBR1):c.-2C>T
|
rs200224304
|
0.00149
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)
|
rs200099319
|
0.00147
|
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)
|
rs41263775
|
0.00146
|
NM_004612.4(TGFBR1):c.1387-14dup
|
rs863223800
|
0.00145
|
NM_017668.3(NDE1):c.948-2772T>C
|
rs143288748
|
0.00138
|
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=)
|
rs199802825
|
0.00136
|
NM_017617.5(NOTCH1):c.3511-10G>A
|
rs139838537
|
0.00134
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_003239.5(TGFB3):c.744C>A (p.Ile248=)
|
rs45477900
|
0.00123
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=)
|
rs148786600
|
0.00118
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=)
|
rs138436047
|
0.00116
|
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=)
|
rs76890940
|
0.00116
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
0.00115
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00113
|
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=)
|
rs142431229
|
0.00113
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr)
|
rs139646798
|
0.00109
|
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)
|
rs188357478
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_019055.6(ROBO4):c.1458C>T (p.Ala486=)
|
rs74458892
|
0.00107
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_002474.3(MYH11):c.291C>T (p.Asn97=)
|
rs113363750
|
0.00106
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=)
|
rs199727625
|
0.00104
|
NM_005911.6(MAT2A):c.813T>C (p.Tyr271=)
|
rs149459768
|
0.00103
|
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
|
rs139052603
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=)
|
rs75650199
|
0.00097
|
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=)
|
rs116741030
|
0.00096
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
NM_000090.4(COL3A1):c.1051-13G>A
|
rs371934572
|
0.00093
|
NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr)
|
rs112657320
|
0.00093
|
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=)
|
rs114556043
|
0.00093
|
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
|
rs142047577
|
0.00092
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln)
|
rs202065858
|
0.00088
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)
|
rs149215818
|
0.00087
|
NM_000071.3(CBS):c.52C>T (p.Arg18Cys)
|
rs201827340
|
0.00086
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
|
rs35860166
|
0.00081
|
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=)
|
rs112051451
|
0.00081
|
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)
|
rs181744522
|
0.00080
|
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)
|
rs79782048
|
0.00079
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)
|
rs111854563
|
0.00078
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)
|
rs75542756
|
0.00076
|
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)
|
rs139881155
|
0.00075
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala)
|
rs150745395
|
0.00071
|
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg)
|
rs374230681
|
0.00070
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
NM_001110556.2(FLNA):c.753C>T (p.Asn251=)
|
rs377507152
|
0.00069
|
NM_000071.3(CBS):c.636C>T (p.Asn212=)
|
rs2298758
|
0.00068
|
NM_002474.3(MYH11):c.1871G>A (p.Arg624His)
|
rs201991156
|
0.00068
|
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser)
|
rs200381100
|
0.00067
|
NM_002474.3(MYH11):c.633+1942T>C
|
rs199755371
|
0.00065
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
NM_002474.3(MYH11):c.3196G>A (p.Asp1066Asn)
|
rs200315340
|
0.00061
|
NM_003238.6(TGFB2):c.-5A>T
|
rs200702935
|
0.00060
|
NM_000090.4(COL3A1):c.3202-14del
|
rs767971610
|
0.00059
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=)
|
rs760611400
|
0.00057
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_002474.3(MYH11):c.2649G>A (p.Ser883=)
|
rs150943863
|
0.00056
|
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)
|
rs199654211
|
0.00056
|
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)
|
rs149530842
|
0.00055
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)
|
rs138574576
|
0.00054
|
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=)
|
rs149790711
|
0.00053
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=)
|
rs139994842
|
0.00053
|
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)
|
rs111936548
|
0.00052
|
NM_006258.4(PRKG1):c.675C>T (p.Thr225=)
|
rs142166726
|
0.00050
|
NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu)
|
rs534479543
|
0.00050
|
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu)
|
rs150033906
|
0.00048
|
NM_016938.5(EFEMP2):c.570G>A (p.Pro190=)
|
rs145853251
|
0.00048
|
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp)
|
rs61730768
|
0.00047
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)
|
rs372265042
|
0.00046
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)
|
rs1005074
|
0.00044
|
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
|
rs200342067
|
0.00043
|
NM_000138.5(FBN1):c.645A>C (p.Arg215=)
|
rs200062771
|
0.00043
|
NM_017617.5(NOTCH1):c.3901+3G>A
|
rs373113999
|
0.00043
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His)
|
rs150737112
|
0.00041
|
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg)
|
rs200273207
|
0.00041
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
NM_005120.3(MED12):c.1695T>A (p.Ile565=)
|
rs138984044
|
0.00039
|
NM_005902.4(SMAD3):c.66G>A (p.Glu22=)
|
rs187952791
|
0.00039
|
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val)
|
rs61755043
|
0.00039
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_005902.4(SMAD3):c.483C>T (p.Pro161=)
|
rs202203039
|
0.00038
|
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=)
|
rs61751550
|
0.00038
|
NM_002474.3(MYH11):c.471C>T (p.Ile157=)
|
rs140267000
|
0.00036
|
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=)
|
rs138423692
|
0.00036
|
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)
|
rs377217445
|
0.00035
|
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)
|
rs373713957
|
0.00035
|
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=)
|
rs369845924
|
0.00035
|
NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys)
|
rs145953933
|
0.00035
|
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)
|
rs149959668
|
0.00034
|
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)
|
rs113022801
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=)
|
rs375821223
|
0.00033
|
NM_002474.3(MYH11):c.1989G>A (p.Lys663=)
|
rs138581000
|
0.00033
|
NM_005911.6(MAT2A):c.438T>C (p.Thr146=)
|
rs143610695
|
0.00033
|
NM_017617.5(NOTCH1):c.1038C>T (p.His346=)
|
rs376951155
|
0.00033
|
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=)
|
rs201550267
|
0.00032
|
NM_002474.3(MYH11):c.3669C>T (p.Asp1223=)
|
rs111940956
|
0.00032
|
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=)
|
rs56262958
|
0.00032
|
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu)
|
rs35035518
|
0.00031
|
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)
|
rs374320445
|
0.00031
|
NM_053025.4(MYLK):c.711C>T (p.Asn237=)
|
rs149407805
|
0.00031
|
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp)
|
rs149124387
|
0.00030
|
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)
|
rs184402915
|
0.00029
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_012186.3(FOXE3):c.234G>A (p.Ala78=)
|
rs201158701
|
0.00027
|
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=)
|
rs146030104
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_005902.4(SMAD3):c.207-11C>T
|
rs148430981
|
0.00026
|
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)
|
rs146228576
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_000138.5(FBN1):c.2678-12T>C
|
rs200368037
|
0.00024
|
NM_001999.4(FBN2):c.297T>C (p.Pro99=)
|
rs79375977
|
0.00024
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu)
|
rs137853319
|
0.00023
|
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=)
|
rs750681115
|
0.00023
|
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met)
|
rs201603843
|
0.00022
|
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=)
|
rs377742525
|
0.00022
|
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=)
|
rs192662552
|
0.00022
|
NM_017668.3(NDE1):c.948-3127C>T
|
rs181115969
|
0.00022
|
NM_000090.4(COL3A1):c.1977+9C>T
|
rs184223621
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_001110556.2(FLNA):c.732C>T (p.Pro244=)
|
rs371092631
|
0.00020
|
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)
|
rs138044126
|
0.00020
|
NM_005120.3(MED12):c.934G>C (p.Val312Leu)
|
rs377403264
|
0.00020
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
0.00020
|
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=)
|
rs147735490
|
0.00020
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
NM_005120.3(MED12):c.708C>T (p.Thr236=)
|
rs34668206
|
0.00019
|
NM_017668.3(NDE1):c.948-5740C>T
|
rs373378619
|
0.00019
|
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=)
|
rs370173604
|
0.00019
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
NM_002474.3(MYH11):c.6G>A (p.Ala2=)
|
rs762011909
|
0.00018
|
NM_002474.3(MYH11):c.1212G>C (p.Gly404=)
|
rs201198815
|
0.00017
|
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=)
|
rs149980738
|
0.00017
|
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=)
|
rs112164939
|
0.00016
|
NM_002317.7(LOX):c.631+10C>T
|
rs199948468
|
0.00016
|
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=)
|
rs200062984
|
0.00016
|
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=)
|
rs144885184
|
0.00016
|
NM_000138.5(FBN1):c.1371C>G (p.Arg457=)
|
rs25436
|
0.00015
|
NM_001613.4(ACTA2):c.936C>T (p.Ala312=)
|
rs200213764
|
0.00015
|
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
|
rs147008323
|
0.00015
|
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn)
|
rs782555930
|
0.00014
|
NM_002474.3(MYH11):c.1635G>C (p.Thr545=)
|
rs773802963
|
0.00014
|
NM_003242.6(TGFBR2):c.1254+16T>C
|
rs45515293
|
0.00014
|
NM_053025.4(MYLK):c.207C>T (p.Asn69=)
|
rs376457425
|
0.00014
|
NM_053025.4(MYLK):c.3639G>A (p.Val1213=)
|
rs148419939
|
0.00014
|
NM_000138.5(FBN1):c.6054C>T (p.Val2018=)
|
rs542953863
|
0.00013
|
NM_003239.5(TGFB3):c.88T>C (p.Leu30=)
|
rs3917145
|
0.00013
|
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)
|
rs369067940
|
0.00013
|
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00012
|
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=)
|
rs368665838
|
0.00012
|
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=)
|
rs374100421
|
0.00012
|
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)
|
rs544709718
|
0.00011
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000138.5(FBN1):c.2892C>T (p.Asp964=)
|
rs116945525
|
0.00010
|
NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg)
|
rs781798819
|
0.00010
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=)
|
rs182894587
|
0.00009
|
NM_002474.3(MYH11):c.3293+6G>A
|
rs370658839
|
0.00009
|
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser)
|
rs202009066
|
0.00009
|
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=)
|
rs368009936
|
0.00008
|
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile)
|
rs782265007
|
0.00008
|
NM_002474.3(MYH11):c.300C>T (p.Ser100=)
|
rs111662326
|
0.00008
|
NM_005911.6(MAT2A):c.729C>T (p.His243=)
|
rs757299832
|
0.00008
|
NM_000093.5(COL5A1):c.1149C>T (p.Thr383=)
|
rs771885855
|
0.00007
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
NM_002474.3(MYH11):c.1056G>A (p.Ser352=)
|
rs201256839
|
0.00007
|
NM_002474.3(MYH11):c.1434C>T (p.Tyr478=)
|
rs763773359
|
0.00007
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn)
|
rs573480396
|
0.00007
|
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr)
|
rs147840022
|
0.00007
|
NM_053025.4(MYLK):c.5238+6G>A
|
rs769544580
|
0.00007
|
NM_053025.4(MYLK):c.601C>T (p.Leu201=)
|
rs773082759
|
0.00007
|
NM_000090.4(COL3A1):c.1150-13T>C
|
rs201839712
|
0.00006
|
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
|
rs200394946
|
0.00006
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
NM_000090.4(COL3A1):c.898-5T>C
|
rs535434618
|
0.00006
|
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu)
|
rs144844792
|
0.00006
|
NM_000138.5(FBN1):c.2901C>T (p.Cys967=)
|
rs755610084
|
0.00006
|
NM_000138.5(FBN1):c.4211-10C>T
|
rs28730793
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala)
|
rs1319771049
|
0.00006
|
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)
|
rs542783734
|
0.00005
|
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=)
|
rs370476531
|
0.00005
|
NM_003242.6(TGFBR2):c.95-7T>C
|
rs764533083
|
0.00005
|
NM_005120.3(MED12):c.5490A>C (p.Thr1830=)
|
rs762466624
|
0.00005
|
NM_000090.4(COL3A1):c.1348-13T>C
|
rs753505868
|
0.00004
|
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=)
|
rs749357239
|
0.00004
|
NM_000093.5(COL5A1):c.12T>C (p.His4=)
|
rs368818087
|
0.00004
|
NM_000138.5(FBN1):c.2168-6G>A
|
rs200924505
|
0.00004
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00004
|
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=)
|
rs141633998
|
0.00004
|
NM_001110556.2(FLNA):c.1092C>T (p.His364=)
|
rs782530005
|
0.00004
|
NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr)
|
rs201073998
|
0.00004
|
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=)
|
rs782006734
|
0.00004
|
NM_002474.3(MYH11):c.2592C>T (p.Thr864=)
|
rs771714041
|
0.00004
|
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=)
|
rs376726823
|
0.00004
|
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=)
|
rs373963384
|
0.00003
|
NM_000138.5(FBN1):c.1992A>T (p.Gly664=)
|
rs183929553
|
0.00003
|
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val)
|
rs554232128
|
0.00003
|
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)
|
rs371715068
|
0.00003
|
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn)
|
rs369751362
|
0.00003
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
NM_000138.5(FBN1):c.4665T>C (p.Val1555=)
|
rs191569116
|
0.00002
|
NM_000138.5(FBN1):c.6998-7C>T
|
rs764823572
|
0.00002
|
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=)
|
rs781929535
|
0.00002
|
NM_002474.3(MYH11):c.4974A>G (p.Gln1658=)
|
rs762733113
|
0.00002
|
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=)
|
rs756625146
|
0.00002
|
NM_005120.3(MED12):c.1956C>T (p.Ser652=)
|
rs199873151
|
0.00002
|
NM_005902.4(SMAD3):c.372C>A (p.Pro124=)
|
rs765624013
|
0.00002
|
NM_000090.4(COL3A1):c.1870-14T>C
|
rs201315795
|
0.00001
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
0.00001
|
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly)
|
rs1415901923
|
0.00001
|
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser)
|
rs771654029
|
0.00001
|
NM_000090.4(COL3A1):c.531C>A (p.Gly177=)
|
rs41272797
|
0.00001
|
NM_000090.4(COL3A1):c.80-13A>C
|
rs566189676
|
0.00001
|
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)
|
rs536546914
|
0.00001
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
NM_000138.5(FBN1):c.6038-8T>A
|
rs569460847
|
0.00001
|
NM_000138.5(FBN1):c.7330+4A>G
|
rs750677373
|
0.00001
|
NM_000138.5(FBN1):c.75G>A (p.Ala25=)
|
rs543230518
|
0.00001
|
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=)
|
rs201299226
|
0.00001
|
NM_002474.3(MYH11):c.5586C>G (p.Arg1862=)
|
rs542765381
|
0.00001
|
NM_003238.6(TGFB2):c.501G>A (p.Glu167=)
|
rs550789732
|
0.00001
|
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)
|
rs780280433
|
0.00001
|
NM_004612.4(TGFBR1):c.15C>T (p.Val5=)
|
rs1165876259
|
0.00001
|
NM_005902.4(SMAD3):c.206+11G>T
|
rs763321881
|
0.00001
|
NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr)
|
rs548756379
|
0.00001
|
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=)
|
rs377302245
|
0.00001
|
NM_017668.3(NDE1):c.948-5748G>A
|
rs574893374
|
0.00001
|
NM_017668.3(NDE1):c.948-9105C>T
|
rs201028938
|
0.00001
|
NM_053025.4(MYLK):c.2388C>T (p.Leu796=)
|
rs193007255
|
0.00001
|
MYH11:c.503-14_503-12del
|
rs141564071
|
|
NM_000090.4(COL3A1):c.1348-4del
|
rs758567906
|
|
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)
|
rs1801183
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)
|
rs148901664
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
|
rs2228560
|
|
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)
|
rs2228560
|
|
NM_000138.5(FBN1):c.*1562G>T
|
rs78442438
|
|
NM_000138.5(FBN1):c.1415= (p.Tyr472=)
|
rs113936729
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[5]
|
rs72158035
|
|
NM_000138.5(FBN1):c.4748-11T>C
|
rs549918653
|
|
NM_000138.5(FBN1):c.5066-12C>A
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-14dup
|
rs3833018
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala)
|
rs200884440
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg)
|
rs111588143
|
|
NM_001110556.2(FLNA):c.1095C>T (p.Ile365=)
|
rs373366243
|
|
NM_001110556.2(FLNA):c.3387C>G (p.Thr1129=)
|
rs372874251
|
|
NM_001110556.2(FLNA):c.4669A>G (p.Thr1557Ala)
|
rs782484503
|
|
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup)
|
rs782721874
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
NM_001999.4(FBN2):c.6167-4G>T
|
rs370981323
|
|
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=)
|
rs140044610
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=)
|
rs140978642
|
|
NM_002474.2:c.5919+5C>G
|
|
|
NM_002474.3(MYH11):c.1575+8del
|
rs769321167
|
|
NM_002474.3(MYH11):c.2166G>A (p.Gln722=)
|
rs548956512
|
|
NM_002474.3(MYH11):c.2653-6G>C
|
rs200637980
|
|
NM_002474.3(MYH11):c.3651+5_3651+11delinsG
|
rs371843272
|
|
NM_002474.3(MYH11):c.3651+6_3651+11del
|
rs371843272
|
|
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=)
|
rs749424185
|
|
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met)
|
rs201960644
|
|
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=)
|
rs149529195
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu)
|
rs750838146
|
|
NM_003238.6(TGFB2):c.933-8_933-6del
|
rs11285412
|
|
NM_003239.5(TGFB3):c.921C>T (p.Cys307=)
|
rs575379914
|
|
NM_003242.6(TGFBR2):c.*2065C>T
|
rs11466536
|
|
NM_003242.6(TGFBR2):c.*2248dup
|
rs34914516
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.263+17del
|
rs754721647
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.455-14del
|
rs2125433170
|
|
NM_003242.6(TGFBR2):c.94+16299A>C
|
rs184395862
|
|
NM_003242.6(TGFBR2):c.95-3300G>C
|
rs12493607
|
|
NM_004612.2:c.76_78delCGC
|
|
|
NM_004612.2:c.76_78dupCG
|
|
|
NM_004612.4(TGFBR1):c.1131-3del
|
|
|
NM_004612.4(TGFBR1):c.1131-3dup
|
|
|
NM_004612.4(TGFBR1):c.1255+22dup
|
|
|
NM_004612.4(TGFBR1):c.20C>G (p.Ala7Gly)
|
rs863223802
|
|
NM_004612.4(TGFBR1):c.343+21_343+22del
|
rs1321978114
|
|
NM_004612.4(TGFBR1):c.343+22dup
|
|
|
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[7] (p.Ala25_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.575-9dup
|
rs863223798
|
|
NM_004612.4(TGFBR1):c.678A>G (p.Gly226=)
|
rs201444476
|
|
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup)
|
rs753370104
|
|
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341
|
|
NM_005744.5(ARIH1):c.75GGA[3] (p.Glu28del)
|
rs143905502
|
|
NM_005901.6(SMAD2):c.730+3dup
|
rs149135973
|
|
NM_005902.4(SMAD3):c.*3512A>G
|
rs886051429
|
|
NM_005902.4(SMAD3):c.*3719C>T
|
rs886051431
|
|
NM_005902.4(SMAD3):c.206+21del
|
|
|
NM_005902.4(SMAD3):c.206+21dup
|
|
|
NM_005902.4(SMAD3):c.27C>T (p.Pro9=)
|
rs765454938
|
|
NM_005902.4(SMAD3):c.506G>A (p.Gly169Asp)
|
|
|
NM_005911.6(MAT2A):c.120T>C (p.Ala40=)
|
|
|
NM_005911.6(MAT2A):c.768+13del
|
|
|
NM_005911.6(MAT2A):c.768+24dup
|
|
|
NM_005911.6(MAT2A):c.92-5dup
|
|
|
NM_005911.6(MAT2A):c.951+12_951+13del
|
|
|
NM_005911.6(MAT2A):c.952-3dup
|
rs139344458
|
|
NM_006258.4(PRKG1):c.522C>T (p.Thr174=)
|
rs369697050
|
|
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)
|
rs200520088
|
|
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr)
|
rs572103199
|
|
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=)
|
rs61751551
|
|
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=)
|
rs557156741
|
|
NM_017617.5(NOTCH1):c.5019-13_5019-10del
|
rs374419074
|
|
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro)
|
rs770333242
|
|
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=)
|
rs369009290
|
|
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)
|
rs116317506
|
|
NM_017668.3(NDE1):c.*388del
|
rs543763112
|
|
NM_017668.3(NDE1):c.947+11989AG[2]
|
rs747642850
|
|
NM_019055.6(ROBO4):c.102C>A (p.Ile34=)
|
|
|
NM_019055.6(ROBO4):c.103C>T (p.Leu35=)
|
|
|
NM_019055.6(ROBO4):c.1150G>A (p.Val384Ile)
|
|
|
NM_019055.6(ROBO4):c.1468C>G (p.His490Asp)
|
|
|
NM_019055.6(ROBO4):c.1639C>T (p.Arg547Trp)
|
|
|
NM_019055.6(ROBO4):c.1650G>A (p.Ala550=)
|
|
|
NM_019055.6(ROBO4):c.1775G>A (p.Ser592Asn)
|
|
|
NM_019055.6(ROBO4):c.2279C>T (p.Pro760Leu)
|
|
|
NM_019055.6(ROBO4):c.2748C>T (p.Ser916=)
|
|
|
NM_019055.6(ROBO4):c.3001+3G>A
|
|
|
NM_019055.6(ROBO4):c.430C>T (p.Arg144Trp)
|
|
|
NM_019055.6(ROBO4):c.570G>A (p.Gly190=)
|
|
|
NM_019055.6(ROBO4):c.645T>C (p.His215=)
|
|
|
NM_019055.6(ROBO4):c.6C>A (p.Gly2=)
|
|
|
NM_019055.6(ROBO4):c.878A>C (p.Gln293Pro)
|
|
|
NM_024817.3(THSD4):c.1183G>A (p.Asp395Asn)
|
|
|
NM_024817.3(THSD4):c.1329G>A (p.Thr443=)
|
|
|
NM_024817.3(THSD4):c.1576G>A (p.Val526Met)
|
|
|
NM_024817.3(THSD4):c.1631-5C>T
|
|
|
NM_024817.3(THSD4):c.1754C>T (p.Ser585Leu)
|
|
|
NM_024817.3(THSD4):c.183C>T (p.Pro61=)
|
|
|
NM_024817.3(THSD4):c.1957G>T (p.Ala653Ser)
|
|
|
NM_024817.3(THSD4):c.2256C>T (p.Cys752=)
|
|
|
NM_024817.3(THSD4):c.2708G>A (p.Ser903Asn)
|
|
|
NM_024817.3(THSD4):c.282C>T (p.Gly94=)
|
|
|
NM_024817.3(THSD4):c.2830_2835del (p.Met944_Thr945del)
|
|
|
NM_024817.3(THSD4):c.291G>A (p.Ala97=)
|
|
|
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=)
|
rs201323237
|
|
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser)
|
rs6094438
|
|
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
|
rs138172035
|
|
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del)
|
rs75967604
|
|
NM_053025.4(MYLK):c.4289-9C>G
|
rs41443051
|
|
NM_053025.4(MYLK):c.588+13_588+16del
|
rs570821069
|
|