ClinVar Miner

List of variants studied for Loeys-Dietz syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 781
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.-784A>C rs1557153 0.99928
NM_000138.5(FBN1):c.*730G>T rs13598 0.89602
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_000138.5(FBN1):c.*2158G>A rs11070641 0.75090
NM_000138.5(FBN1):c.*1575T>G rs4775760 0.68134
NM_000138.5(FBN1):c.*314C>T rs1042078 0.63415
NM_003238.6(TGFB2):c.-677T>C rs112369231 0.39003
NM_003238.6(TGFB2):c.*747A>C rs991967 0.37303
NM_003238.6(TGFB2):c.*2431C>G rs1046017 0.37219
NM_003238.6(TGFB2):c.*1310C>T rs1418556 0.37003
NM_003238.6(TGFB2):c.*2839G>A rs6704255 0.35183
NM_003238.6(TGFB2):c.*3196C>T rs6683598 0.34937
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_003238.6(TGFB2):c.*201A>T rs900 0.32524
NM_005902.4(SMAD3):c.*2227G>A rs11638476 0.31592
NM_004612.4(TGFBR1):c.*4578T>G rs1590 0.28501
NM_004612.4(TGFBR1):c.*884A>G rs334348 0.28211
NM_004612.4(TGFBR1):c.*2800G>A rs334349 0.27616
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_005902.4(SMAD3):c.-15G>A rs1061427 0.22024
NM_005902.4(SMAD3):c.*2793C>T rs3743342 0.19499
NM_005902.4(SMAD3):c.*2282C>T rs12595334 0.19274
NM_005902.4(SMAD3):c.*1423C>T rs2278670 0.19250
NM_005902.4(SMAD3):c.*1105G>A rs8031440 0.19244
NM_005902.4(SMAD3):c.*1245G>A rs8031627 0.19233
NM_005902.4(SMAD3):c.*402C>T rs8025774 0.19194
NM_004612.4(TGFBR1):c.*69A>G rs868 0.17222
NM_004612.4(TGFBR1):c.*3286G>C rs420549 0.16407
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_004612.4(TGFBR1):c.*2103T>G rs7871490 0.12488
NM_003238.6(TGFB2):c.-714A>C rs73110310 0.10708
NM_003242.6(TGFBR2):c.-128C>G rs2306856 0.10667
NM_003242.6(TGFBR2):c.*747C>G rs11466531 0.10463
NM_003238.6(TGFB2):c.*1624T>A rs3737977 0.10338
NM_004612.4(TGFBR1):c.*4489T>C rs7850895 0.07302
NM_003242.6(TGFBR2):c.*1809A>G rs6550008 0.07275
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000138.4(FBN1):c.-388C>T rs3825792 0.06008
NM_003242.6(TGFBR2):c.*1521G>A rs11466533 0.04903
NM_003242.6(TGFBR2):c.*2085T>A rs11466537 0.04867
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_003238.6(TGFB2):c.*1502T>C rs17500758 0.03234
NM_004612.4(TGFBR1):c.*2112G>T rs60885995 0.03132
NM_000138.5(FBN1):c.*2040T>C rs73390272 0.03120
NM_000138.5(FBN1):c.*1959G>A rs12050562 0.03119
NM_003238.6(TGFB2):c.-1302A>G rs10482718 0.03064
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03013
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_003242.6(TGFBR2):c.*1833A>C rs1803446 0.02445
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_003238.6(TGFB2):c.*39G>A rs11466412 0.02203
NM_003238.6(TGFB2):c.*2188T>C rs17047869 0.02183
NM_004612.4(TGFBR1):c.*4300C>T rs41283642 0.02037
NM_000138.5(FBN1):c.*57A>G rs363849 0.01992
NM_004612.4(TGFBR1):c.*4499G>A rs79641064 0.01970
NM_003238.6(TGFB2):c.*1443T>A rs60086269 0.01705
NM_005902.4(SMAD3):c.-28C>T rs144374592 0.01666
NM_005902.4(SMAD3):c.*843G>A rs55970514 0.01590
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_000138.5(FBN1):c.*1989C>T rs56194244 0.01330
NM_000138.5(FBN1):c.*1368A>G rs77212138 0.01328
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_004612.4(TGFBR1):c.*2703G>A rs76392135 0.01278
NM_003242.6(TGFBR2):c.*330C>A rs304840 0.01221
NM_003242.6(TGFBR2):c.*1880G>A rs11466534 0.01174
NM_003238.6(TGFB2):c.*1128G>A rs56271792 0.01172
NM_005902.4(SMAD3):c.*419G>T rs78329172 0.01117
NM_005902.4(SMAD3):c.*2229A>G rs188412401 0.01091
NM_003238.6(TGFB2):c.-1016C>T rs11466365 0.01071
NM_003238.6(TGFB2):c.*2564A>G rs77808075 0.01063
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_003238.6(TGFB2):c.-620G>A rs886045971 0.01029
NM_003242.6(TGFBR2):c.*835C>A rs17026332 0.00994
NM_003238.6(TGFB2):c.*1585C>G rs17047863 0.00958
NM_003242.6(TGFBR2):c.*1354C>T rs11466532 0.00943
NM_003238.6(TGFB2):c.-1230G>A rs11466363 0.00928
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_004612.4(TGFBR1):c.*1428G>C rs11568811 0.00845
NM_003242.5(TGFBR2):c.-302A>G rs138010137 0.00832
NM_000138.5(FBN1):c.*867G>T rs189749406 0.00798
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_004612.4(TGFBR1):c.*2645A>C rs17724567 0.00660
NM_005902.4(SMAD3):c.*3037C>G rs145645018 0.00655
NM_000138.5(FBN1):c.*2153A>G rs116443051 0.00654
NM_003238.6(TGFB2):c.*1273T>C rs143593418 0.00586
NM_003238.6(TGFB2):c.-288A>T rs116531760 0.00572
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_000138.5(FBN1):c.*1580G>A rs17352989 0.00504
NM_004612.4(TGFBR1):c.*360A>G rs145692006 0.00493
NM_003238.6(TGFB2):c.*969T>C rs187495965 0.00490
NM_000138.5(FBN1):c.*2674T>A rs142196699 0.00484
NM_004612.4(TGFBR1):c.*2081G>T rs200898127 0.00465
NM_000138.5(FBN1):c.*1084T>C rs3803350 0.00464
NM_003238.6(TGFB2):c.*1684G>C rs192396801 0.00452
NM_003242.6(TGFBR2):c.*858C>T rs142745018 0.00443
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_003242.6(TGFBR2):c.*1507A>G rs139938413 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_003242.6(TGFBR2):c.*599C>A rs79755385 0.00431
NM_003242.6(TGFBR2):c.*1815C>T rs146296952 0.00421
NM_003242.6(TGFBR2):c.*149A>T rs143024112 0.00415
NM_004612.4(TGFBR1):c.*3261T>C rs117440593 0.00406
NM_003242.6(TGFBR2):c.*105G>A rs149112005 0.00377
NM_004612.4(TGFBR1):c.*3262C>T rs78385793 0.00377
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_004612.4(TGFBR1):c.*2092G>T rs199545273 0.00369
NM_000138.5(FBN1):c.*1298C>G rs143446014 0.00360
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_004612.4(TGFBR1):c.*3192T>C rs148797981 0.00356
NM_003242.6(TGFBR2):c.*2483T>G rs79535432 0.00328
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_005902.4(SMAD3):c.*1777_*1778insCCT rs369386357 0.00314
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_004612.4(TGFBR1):c.*1515G>A rs11568812 0.00279
NM_004612.4(TGFBR1):c.*4202A>G rs200206515 0.00278
NM_004612.4(TGFBR1):c.*566T>C rs11568808 0.00275
NM_004612.4(TGFBR1):c.*4565T>C rs138721378 0.00273
NM_005902.4(SMAD3):c.*291G>A rs146287966 0.00270
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_005902.4(SMAD3):c.*579del rs550707472 0.00264
NM_003238.6(TGFB2):c.*2269T>C rs193244018 0.00262
NM_003238.6(TGFB2):c.-746G>T rs576053414 0.00259
NM_000138.5(FBN1):c.*2524A>G rs75372203 0.00254
NM_004612.4(TGFBR1):c.*4493G>A rs41274644 0.00250
NM_003238.6(TGFB2):c.-644A>G rs747761067 0.00246
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530 0.00230
NM_004612.4(TGFBR1):c.*2100T>G rs532530728 0.00223
NM_005902.4(SMAD3):c.*301C>T rs72661159 0.00215
NM_003238.6(TGFB2):c.*1315T>G rs577782618 0.00214
NM_005902.4(SMAD3):c.*2013T>C rs183913368 0.00214
NM_004612.4(TGFBR1):c.*1183G>A rs184564501 0.00209
NM_000138.5(FBN1):c.*1245C>T rs181099623 0.00207
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_003242.6(TGFBR2):c.*1886G>T rs11466535 0.00188
NM_005902.4(SMAD3):c.-23C>T rs36221703 0.00185
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_004612.4(TGFBR1):c.*4809A>T rs185400896 0.00156
NM_005902.4(SMAD3):c.*1880C>T rs144205938 0.00153
NM_000138.5(FBN1):c.*1252A>G rs566419089 0.00150
NM_005902.4(SMAD3):c.*1181C>T rs72661160 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_000138.5(FBN1):c.-176A>T rs560004254 0.00145
NM_000138.5(FBN1):c.*2398G>T rs377530465 0.00135
NM_004612.4(TGFBR1):c.*2685T>G rs145043837 0.00132
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_005902.4(SMAD3):c.*1255A>G rs569581429 0.00129
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_003242.6(TGFBR2):c.*742C>T rs17026328 0.00125
NM_003242.6(TGFBR2):c.*2066G>A rs566913021 0.00116
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.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.*2045G>A rs372254135 0.00106
NM_000138.5(FBN1):c.*2024A>G rs558488257 0.00103
NM_005902.4(SMAD3):c.*2547C>T rs72661161 0.00096
NM_004612.4(TGFBR1):c.*4623G>C rs200806851 0.00092
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_003238.6(TGFB2):c.*1233T>A rs555872587 0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_005902.4(SMAD3):c.*654A>G rs571689385 0.00088
NM_003238.6(TGFB2):c.*720T>C rs544540486 0.00087
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_005902.4(SMAD3):c.*1805T>C rs191114875 0.00086
NM_005902.4(SMAD3):c.*2242A>G rs117707762 0.00083
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_003238.6(TGFB2):c.-338T>A rs148765724 0.00074
NM_000138.5(FBN1):c.*2091G>A rs575922741 0.00073
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_003238.6(TGFB2):c.*2950G>A rs147957308 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_005902.4(SMAD3):c.*1315C>T rs886051391 0.00070
NM_004612.4(TGFBR1):c.*1804A>G rs200656974 0.00068
NM_004612.4(TGFBR1):c.*4040T>A rs41283640 0.00066
NM_003242.6(TGFBR2):c.*443A>G rs188599299 0.00065
NM_000138.5(FBN1):c.*779C>T rs113200355 0.00064
NM_000138.5(FBN1):c.*1341C>T rs766719764 0.00061
NM_003238.6(TGFB2):c.-5A>T rs200702935 0.00060
NM_003242.6(TGFBR2):c.*1682A>G rs17026341 0.00058
NM_005902.4(SMAD3):c.*1583T>G rs577631492 0.00058
NM_003242.6(TGFBR2):c.*848C>T rs17026336 0.00056
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_005902.4(SMAD3):c.*1325T>C rs139620908 0.00052
NM_005902.4(SMAD3):c.*2444A>G rs145102966 0.00052
NM_005902.4(SMAD3):c.*2995G>A rs140694679 0.00052
NM_005902.4(SMAD3):c.*318G>A rs79368607 0.00052
NM_003238.6(TGFB2):c.*135G>A rs61762489 0.00049
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_000138.5(FBN1):c.*43A>T rs144710695 0.00043
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_005902.4(SMAD3):c.*2028T>C rs549152312 0.00041
NM_004612.4(TGFBR1):c.*2005T>G rs144216869 0.00040
NM_003238.6(TGFB2):c.*2053G>A rs530767727 0.00039
NM_003242.6(TGFBR2):c.*312A>T rs576840706 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_005902.4(SMAD3):c.*798G>A rs138327222 0.00037
NM_000138.5(FBN1):c.*2395G>A rs184719603 0.00035
NM_004612.4(TGFBR1):c.*1772A>C rs201191009 0.00035
NM_004612.4(TGFBR1):c.*4366A>G rs199892683 0.00035
NM_004612.4(TGFBR1):c.*4728G>A rs187415138 0.00035
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_003242.6(TGFBR2):c.-193G>A rs886058301 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_004612.4(TGFBR1):c.*1240G>A rs200689459 0.00034
NM_004612.4(TGFBR1):c.*311G>A rs200804500 0.00034
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_004612.4(TGFBR1):c.*3779C>T rs201887512 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.*1720C>T rs557301792 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_003238.6(TGFB2):c.*2496A>G rs745522168 0.00029
NM_003238.6(TGFB2):c.-96C>A rs1004111898 0.00029
NM_005902.4(SMAD3):c.*2046T>C rs761162475 0.00028
NM_000138.5(FBN1):c.-136G>C rs879283668 0.00027
NM_000138.5(FBN1):c.*1949T>C rs534577080 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.*1165A>G rs567052377 0.00026
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_000138.5(FBN1):c.*1706C>A rs770825180 0.00024
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00024
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_003238.6(TGFB2):c.*45A>G rs769232186 0.00024
NM_005902.4(SMAD3):c.*1217A>G rs150600147 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_004612.4(TGFBR1):c.*2095T>G rs201780012 0.00023
NM_000138.5(FBN1):c.*1432A>T rs750902806 0.00022
NM_004612.4(TGFBR1):c.*2799C>T rs200274678 0.00022
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552 0.00022
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_005902.4(SMAD3):c.-244G>A rs886051374 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_003242.6(TGFBR2):c.*86A>G rs540602629 0.00021
NM_004612.4(TGFBR1):c.-13T>C rs886063220 0.00020
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714 0.00020
NM_005902.4(SMAD3):c.*2786T>A rs775905689 0.00020
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_005902.4(SMAD3):c.*665T>A rs186841203 0.00019
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_003238.6(TGFB2):c.*2108G>A rs184256338 0.00018
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_004612.4(TGFBR1):c.*3314A>G rs200374520 0.00018
NM_004612.4(TGFBR1):c.*1659T>C rs200082162 0.00017
NM_004612.4(TGFBR1):c.*3798G>A rs141277814 0.00017
NM_005902.4(SMAD3):c.-265T>G rs886051373 0.00017
NM_000138.5(FBN1):c.*1228T>C rs372333234 0.00016
NM_004612.4(TGFBR1):c.*2179del rs373576679 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_003242.6(TGFBR2):c.*407A>G rs917786105 0.00015
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_004612.4(TGFBR1):c.*2290T>C rs1001943455 0.00014
NM_003238.6(TGFB2):c.*1338T>A rs574858097 0.00013
NM_004612.4(TGFBR1):c.*372T>C rs200786932 0.00013
NM_005902.4(SMAD3):c.*2285G>A rs62014609 0.00013
NM_005902.4(SMAD3):c.*2403C>T rs755985886 0.00013
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_004612.4(TGFBR1):c.*1759C>A rs183812806 0.00012
NM_004612.4(TGFBR1):c.*3382T>G rs200080374 0.00012
NM_004612.4(TGFBR1):c.*913C>T rs201990134 0.00012
NM_000138.5(FBN1):c.*2037T>C rs544842106 0.00011
NM_000138.5(FBN1):c.*2556G>A rs886051221 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_004612.4(TGFBR1):c.*2410C>T rs200722893 0.00011
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_003238.6(TGFB2):c.*589C>A rs886045981 0.00010
NM_003242.5(TGFBR2):c.-371A>C rs886058297 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_004612.4(TGFBR1):c.*4293A>G rs201453868 0.00010
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987 0.00010
NM_000138.5(FBN1):c.*1981C>T rs1054860347 0.00009
NM_000138.5(FBN1):c.*2044C>T rs561911965 0.00009
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_003238.6(TGFB2):c.*1428T>C rs770610828 0.00009
NM_003238.6(TGFB2):c.*2352T>G rs537275941 0.00009
NM_004612.4(TGFBR1):c.*3704A>G rs563433922 0.00009
NM_004612.4(TGFBR1):c.*3830T>C rs186157987 0.00009
NM_005902.4(SMAD3):c.*51G>C rs368655036 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_000138.5(FBN1):c.*254C>T rs886051243 0.00007
NM_003238.6(TGFB2):c.*1271A>G rs572446864 0.00007
NM_000138.5(FBN1):c.*2592T>C rs752936528 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.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_003238.6(TGFB2):c.*1034A>C rs932331054 0.00006
NM_003238.6(TGFB2):c.*1229T>C rs781757001 0.00006
NM_003238.6(TGFB2):c.*3193A>G rs1161476569 0.00006
NM_003238.6(TGFB2):c.*972A>C rs565195408 0.00006
NM_003242.5(TGFBR2):c.-307C>T rs749340193 0.00006
NM_003242.6(TGFBR2):c.*1637G>A rs1032978663 0.00006
NM_004612.4(TGFBR1):c.*2846A>G rs200238696 0.00006
NM_004612.4(TGFBR1):c.*4356A>G rs201446431 0.00006
NM_005902.4(SMAD3):c.*250C>A rs754034578 0.00006
NM_000138.5(FBN1):c.-123C>A rs1004900313 0.00005
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.7820-4G>A rs750036723 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_003238.6(TGFB2):c.-1249G>A rs1002933360 0.00005
NM_004612.4(TGFBR1):c.*1710G>A rs200197062 0.00005
NM_005902.4(SMAD3):c.*626C>T rs886051385 0.00005
NM_005902.4(SMAD3):c.607+9T>A rs886051380 0.00005
NM_000138.5(FBN1):c.*1325T>C rs569152308 0.00004
NM_000138.5(FBN1):c.*2221A>G rs886051226 0.00004
NM_000138.5(FBN1):c.*300T>C rs1011876253 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_003238.6(TGFB2):c.*1389C>T rs528922293 0.00004
NM_003238.6(TGFB2):c.*2007C>T rs1007087694 0.00004
NM_003238.6(TGFB2):c.*2089A>C rs886045988 0.00004
NM_003242.6(TGFBR2):c.*1572A>G rs878857301 0.00004
NM_003242.6(TGFBR2):c.*2340T>C rs886058328 0.00004
NM_003242.6(TGFBR2):c.*352A>G rs565524213 0.00004
NM_003242.6(TGFBR2):c.*988C>T rs138036906 0.00004
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=) rs758280185 0.00004
NM_005902.4(SMAD3):c.*1316G>A rs996604810 0.00004
NM_005902.4(SMAD3):c.*789A>G rs191679355 0.00004
NM_005902.4(SMAD3):c.*805G>A rs770764038 0.00004
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_000138.5(FBN1):c.*1375A>C rs1049315076 0.00003
NM_000138.5(FBN1):c.*1619T>A rs374297351 0.00003
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00003
NM_000138.5(FBN1):c.*845C>T rs1022238055 0.00003
NM_000138.5(FBN1):c.-98G>T rs886051254 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.885T>G (p.Ile295Met) rs151056963 0.00003
NM_003238.6(TGFB2):c.-569T>C rs886045972 0.00003
NM_003238.6(TGFB2):c.-679G>A rs886045964 0.00003
NM_003238.6(TGFB2):c.-682C>G rs886045963 0.00003
NM_003238.6(TGFB2):c.-794T>C rs886045960 0.00003
NM_003242.6(TGFBR2):c.*1075C>T rs544093849 0.00003
NM_003242.6(TGFBR2):c.*2425C>A rs886058329 0.00003
NM_003242.6(TGFBR2):c.*328A>C rs886058309 0.00003
NM_003242.6(TGFBR2):c.*989G>A rs886058316 0.00003
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=) rs141113059 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_004612.4(TGFBR1):c.*1959G>T rs886063237 0.00003
NM_004612.4(TGFBR1):c.*3059A>G rs200138586 0.00003
NM_004612.4(TGFBR1):c.*3150C>T rs200525939 0.00003
NM_004612.4(TGFBR1):c.*4793A>G rs77001090 0.00003
NM_005902.4(SMAD3):c.*2573G>A rs886051418 0.00003
NM_005902.4(SMAD3):c.*552G>C rs769408016 0.00003
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=) rs757106110 0.00003
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_000138.5(FBN1):c.*1249A>G rs1456413075 0.00002
NM_000138.5(FBN1):c.*1398G>C rs886051234 0.00002
NM_000138.5(FBN1):c.*1484C>T rs533502309 0.00002
NM_000138.5(FBN1):c.*253A>T rs539383558 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_003238.6(TGFB2):c.*2509G>T rs967223935 0.00002
NM_003238.6(TGFB2):c.1087-13T>G rs374394434 0.00002
NM_003238.6(TGFB2):c.798T>A (p.Thr266=) rs376354795 0.00002
NM_003242.6(TGFBR2):c.*579T>C rs1259191128 0.00002
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys) rs144701411 0.00002
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu) rs767120937 0.00002
NM_004612.4(TGFBR1):c.*3482C>G rs201952588 0.00002
NM_004612.4(TGFBR1):c.*4147G>A rs570685518 0.00002
NM_005902.4(SMAD3):c.*1561A>T rs1275046716 0.00002
NM_000138.4(FBN1):c.-319G>T rs886051256 0.00001
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.*252G>A rs1407193739 0.00001
NM_000138.5(FBN1):c.*764G>A rs55717426 0.00001
NM_000138.5(FBN1):c.*968G>A rs999275120 0.00001
NM_000138.5(FBN1):c.1837+9T>C rs56102085 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4336+11G>A rs886051249 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys) rs397515831 0.00001
NM_000138.5(FBN1):c.6739+10C>T rs1179540326 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) rs1166405014 0.00001
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser) rs1566889839 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) rs371130701 0.00001
NM_003238.6(TGFB2):c.*1615T>C rs886045987 0.00001
NM_003238.6(TGFB2):c.*1871C>T rs1009327040 0.00001
NM_003238.6(TGFB2):c.*193A>C rs1413240885 0.00001
NM_003238.6(TGFB2):c.*489A>G rs558071814 0.00001
NM_003238.6(TGFB2):c.*782del rs886045983 0.00001
NM_003238.6(TGFB2):c.*962A>G rs886045984 0.00001
NM_003238.6(TGFB2):c.-1153G>T rs886045959 0.00001
NM_003238.6(TGFB2):c.-540A>T rs868385461 0.00001
NM_003238.6(TGFB2):c.-616G>A rs1018085683 0.00001
NM_003238.6(TGFB2):c.-683C>A rs886045962 0.00001
NM_003238.6(TGFB2):c.1181T>C (p.Ile394Thr) rs886045980 0.00001
NM_003238.6(TGFB2):c.37C>A (p.His13Asn) rs763918203 0.00001
NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr) rs886045975 0.00001
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys) rs764028978 0.00001
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile) rs373352179 0.00001
NM_003238.6(TGFB2):c.918G>A (p.Ala306=) rs767936611 0.00001
NM_003242.6(TGFBR2):c.*1201C>T rs886058318 0.00001
NM_003242.6(TGFBR2):c.*1285A>T rs574876197 0.00001
NM_003242.6(TGFBR2):c.*1465T>C rs1171877784 0.00001
NM_003242.6(TGFBR2):c.*1887G>A rs886058324 0.00001
NM_003242.6(TGFBR2):c.*1998G>A rs886058325 0.00001
NM_003242.6(TGFBR2):c.*820G>A rs1259248325 0.00001
NM_003242.6(TGFBR2):c.-117G>A rs886058302 0.00001
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746 0.00001
NM_003242.6(TGFBR2):c.1525-10C>G rs747069454 0.00001
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304 0.00001
NM_004612.4(TGFBR1):c.*1343T>C rs11568810 0.00001
NM_004612.4(TGFBR1):c.*1910A>G rs1251469176 0.00001
NM_004612.4(TGFBR1):c.*2409A>G rs1268827179 0.00001
NM_004612.4(TGFBR1):c.*2791G>A rs201846922 0.00001
NM_004612.4(TGFBR1):c.*2833G>A rs200520116 0.00001
NM_004612.4(TGFBR1):c.*2880C>A rs886063247 0.00001
NM_004612.4(TGFBR1):c.*2943A>G rs937916276 0.00001
NM_004612.4(TGFBR1):c.*3056C>A rs886063249 0.00001
NM_004612.4(TGFBR1):c.*3790C>T rs201101442 0.00001
NM_004612.4(TGFBR1):c.*4219G>A rs1022130561 0.00001
NM_004612.4(TGFBR1):c.*4295C>T rs199650257 0.00001
NM_004612.4(TGFBR1):c.*441C>T rs202012098 0.00001
NM_004612.4(TGFBR1):c.*789G>A rs200428927 0.00001
NM_004612.4(TGFBR1):c.-31G>A rs1404137226 0.00001
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser) rs767785290 0.00001
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) rs886063223 0.00001
NM_005902.3(SMAD3):c.*4658T>C rs548318946 0.00001
NM_005902.4(SMAD3):c.*1159A>G rs1002378365 0.00001
NM_005902.4(SMAD3):c.*1455G>C rs1479158835 0.00001
NM_005902.4(SMAD3):c.*1819C>T rs886051406 0.00001
NM_005902.4(SMAD3):c.*804C>T rs1217099486 0.00001
NM_005902.4(SMAD3):c.*925G>A rs886051389 0.00001
NM_005902.4(SMAD3):c.1010-12T>C rs773629535 0.00001
NM_005902.4(SMAD3):c.1059C>A (p.Ala353=) rs767649515 0.00001
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys) rs1085307496 0.00001
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser) rs369221296 0.00001
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln) rs375574124 0.00001
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-389_-388TC[1] rs886051258
NM_000138.4(FBN1):c.-400A>T rs1890299170
NM_000138.5(FBN1):c.*1007G>T rs886051236
NM_000138.5(FBN1):c.*107A>G rs562749473
NM_000138.5(FBN1):c.*1122C>T rs2042846511
NM_000138.5(FBN1):c.*1201T>G rs574181586
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1562G>T rs78442438
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2114T>A rs886051227
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*235T>C rs1597506366
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*2638T>C rs886051219
NM_000138.5(FBN1):c.*268G>C rs886051242
NM_000138.5(FBN1):c.*286C>T rs886051241
NM_000138.5(FBN1):c.*311G>A rs894774727
NM_000138.5(FBN1):c.*325T>C rs537909430
NM_000138.5(FBN1):c.*399C>A rs2042852375
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*724A>C rs886051239
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*948G>T rs749224599
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.*967C>T rs56024388
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-108G>A rs1029606067
NM_000138.5(FBN1):c.-132A>C rs886051255
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.-70C>A rs886051253
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.5(FBN1):c.1468+4C>A rs765579667
NM_000138.5(FBN1):c.2031T>A (p.Ala677=) rs762312642
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly) rs2043616665
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr) rs1555398673
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His) rs369745372
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly) rs2043513994
NM_000138.5(FBN1):c.3712+9G>T rs769251450
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly) rs2043386794
NM_000138.5(FBN1):c.443-15C>A rs2044516377
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr) rs2043210566
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val) rs2043210544
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp) rs2043050683
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys) rs2043050244
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala) rs2044025163
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln) rs2042946233
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) rs781352764
NM_001407129.1(TGFBR2):c.-109C>T rs1697919506
NM_003238.6(TGFB2):c.*1198A>G rs556560548
NM_003238.6(TGFB2):c.*1233del rs532376886
NM_003238.6(TGFB2):c.*1233dup rs532376886
NM_003238.6(TGFB2):c.*1431A>C rs1660199096
NM_003238.6(TGFB2):c.*2008G>A rs12408711
NM_003238.6(TGFB2):c.*21G>T rs778452299
NM_003238.6(TGFB2):c.*2359_*2361del rs3054943
NM_003238.6(TGFB2):c.*2360_*2361del rs3054943
NM_003238.6(TGFB2):c.*2361del rs3054943
NM_003238.6(TGFB2):c.*2421G>T rs1660233472
NM_003238.6(TGFB2):c.*2617T>C rs886045992
NM_003238.6(TGFB2):c.*2980G>C rs886045993
NM_003238.6(TGFB2):c.*3076G>A rs1660255565
NM_003238.6(TGFB2):c.*3141A>G rs886045994
NM_003238.6(TGFB2):c.*3210C>T rs767736529
NM_003238.6(TGFB2):c.*323CAA[9] rs11118106
NM_003238.6(TGFB2):c.*338C>T rs1660159523
NM_003238.6(TGFB2):c.*772C>T rs886045982
NM_003238.6(TGFB2):c.*799del rs57430619
NM_003238.6(TGFB2):c.-101A>G rs1656685944
NM_003238.6(TGFB2):c.-113_-110dup rs10482719
NM_003238.6(TGFB2):c.-1237G>C rs1656628678
NM_003238.6(TGFB2):c.-1271A>G rs886045958
NM_003238.6(TGFB2):c.-1278AAGAGA[3] rs886045957
NM_003238.6(TGFB2):c.-45del rs200186989
NM_003238.6(TGFB2):c.-514T>C rs1656669231
NM_003238.6(TGFB2):c.-542C>T rs886045973
NM_003238.6(TGFB2):c.-644AC[11] rs151329324
NM_003238.6(TGFB2):c.-644AC[13] rs151329324
NM_003238.6(TGFB2):c.-644AC[14] rs151329324
NM_003238.6(TGFB2):c.-644AC[15] rs151329324
NM_003238.6(TGFB2):c.-645_-644insCCACGC rs886045967
NM_003238.6(TGFB2):c.-646G>A rs886045968
NM_003238.6(TGFB2):c.-652GCACAC[3] rs765496001
NM_003238.6(TGFB2):c.-663C>T rs886045965
NM_003238.6(TGFB2):c.-699A>C rs886045961
NM_003238.6(TGFB2):c.-758G>C rs954024485
NM_003238.6(TGFB2):c.1029C>T (p.Ala343=) rs886045979
NM_003238.6(TGFB2):c.347-10T>A rs1419643875
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[8] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9] rs10482769
NM_003238.6(TGFB2):c.510+9C>T rs1481374757
NM_003238.6(TGFB2):c.54G>T (p.Ala18=) rs781126315
NM_003238.6(TGFB2):c.670T>G (p.Leu224Val) rs886045978
NM_003238.6(TGFB2):c.734A>T (p.Glu245Val) rs1659906438
NM_003242.5(TGFBR2):c.-344C>A rs886058298
NM_003242.6(TGFBR2):c.*1207A>G rs1699738762
NM_003242.6(TGFBR2):c.*1211A>T rs886058319
NM_003242.6(TGFBR2):c.*1326G>A rs886058320
NM_003242.6(TGFBR2):c.*1327C>G rs1699740473
NM_003242.6(TGFBR2):c.*1715A>G rs559265897
NM_003242.6(TGFBR2):c.*1842G>T rs886058321
NM_003242.6(TGFBR2):c.*1859G>T rs886058322
NM_003242.6(TGFBR2):c.*1860C>A rs886058323
NM_003242.6(TGFBR2):c.*1887G>T rs886058324
NM_003242.6(TGFBR2):c.*1966A>G rs1699748594
NM_003242.6(TGFBR2):c.*2065C>T rs11466536
NM_003242.6(TGFBR2):c.*2248dup rs34914516
NM_003242.6(TGFBR2):c.*226C>A rs886058307
NM_003242.6(TGFBR2):c.*2332A>C rs886058326
NM_003242.6(TGFBR2):c.*2335T>A rs886058327
NM_003242.6(TGFBR2):c.*2437T>A rs886058330
NM_003242.6(TGFBR2):c.*312AT[11] rs4016180
NM_003242.6(TGFBR2):c.*330_*331del rs561991238
NM_003242.6(TGFBR2):c.*33A>G rs886058306
NM_003242.6(TGFBR2):c.*598G>T rs886058311
NM_003242.6(TGFBR2):c.*704A>G rs886058312
NM_003242.6(TGFBR2):c.*713G>T rs886058313
NM_003242.6(TGFBR2):c.*793G>T rs886058314
NM_003242.6(TGFBR2):c.*799A>G rs886058315
NM_003242.6(TGFBR2):c.*859G>A rs548242538
NM_003242.6(TGFBR2):c.*997T>A rs886058317
NM_003242.6(TGFBR2):c.-122T>G rs1040386724
NM_003242.6(TGFBR2):c.-18C>A rs753369354
NM_003242.6(TGFBR2):c.-195G>A rs925186023
NM_003242.6(TGFBR2):c.-228C>A rs886058300
NM_003242.6(TGFBR2):c.-249T>G rs886058299
NM_003242.6(TGFBR2):c.-26G>A rs752752584
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser) rs886058303
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=) rs886058305
NM_004612.4(TGFBR1):c.*1080A>C rs1461290743
NM_004612.4(TGFBR1):c.*1159T>G rs1827950323
NM_004612.4(TGFBR1):c.*1223A>G rs886063229
NM_004612.4(TGFBR1):c.*1250G>T rs886063230
NM_004612.4(TGFBR1):c.*1269T>G rs189032587
NM_004612.4(TGFBR1):c.*1368C>A rs886063231
NM_004612.4(TGFBR1):c.*1431G>T rs886063232
NM_004612.4(TGFBR1):c.*1687A>G rs886063233
NM_004612.4(TGFBR1):c.*1704G>T rs886063234
NM_004612.4(TGFBR1):c.*1787T>C rs886063235
NM_004612.4(TGFBR1):c.*1792C>A rs1827968273
NM_004612.4(TGFBR1):c.*1924G>T rs886063236
NM_004612.4(TGFBR1):c.*2086T>G rs148063684
NM_004612.4(TGFBR1):c.*2101T>G rs1827975718
NM_004612.4(TGFBR1):c.*2101_*2102insGT rs886063239
NM_004612.4(TGFBR1):c.*2104_*2105insGT rs1554703244
NM_004612.4(TGFBR1):c.*2105dup rs200529894
NM_004612.4(TGFBR1):c.*2106G>T rs201054018
NM_004612.4(TGFBR1):c.*2106GTT[2] rs886063241
NM_004612.4(TGFBR1):c.*2279T>C rs886063242
NM_004612.4(TGFBR1):c.*2411G>C rs11568813
NM_004612.4(TGFBR1):c.*247T>C rs1827918720
NM_004612.4(TGFBR1):c.*250T>A rs1827918871
NM_004612.4(TGFBR1):c.*2547A>G rs886063243
NM_004612.4(TGFBR1):c.*2554A>T rs1827986039
NM_004612.4(TGFBR1):c.*2634TCT[1] rs886063244
NM_004612.4(TGFBR1):c.*2713G>T rs886063245
NM_004612.4(TGFBR1):c.*2768T>A rs886063246
NM_004612.4(TGFBR1):c.*2980G>T rs886063248
NM_004612.4(TGFBR1):c.*3095A>G rs1828003249
NM_004612.4(TGFBR1):c.*309C>T rs886063226
NM_004612.4(TGFBR1):c.*3317C>G rs201113438
NM_004612.4(TGFBR1):c.*339G>T rs199861787
NM_004612.4(TGFBR1):c.*3430del rs78078491
NM_004612.4(TGFBR1):c.*3432G>T rs886063251
NM_004612.4(TGFBR1):c.*3567G>A rs886063252
NM_004612.4(TGFBR1):c.*3716T>C rs886063253
NM_004612.4(TGFBR1):c.*3839A>C rs906560184
NM_004612.4(TGFBR1):c.*3881G>T rs886063254
NM_004612.4(TGFBR1):c.*4055G>T rs886063255
NM_004612.4(TGFBR1):c.*4088G>T rs886063256
NM_004612.4(TGFBR1):c.*408C>T rs941101059
NM_004612.4(TGFBR1):c.*4278C>T rs200414044
NM_004612.4(TGFBR1):c.*4445C>G rs202020004
NM_004612.4(TGFBR1):c.*4467C>A rs886063257
NM_004612.4(TGFBR1):c.*456G>T rs200245567
NM_004612.4(TGFBR1):c.*469T>C rs1827927207
NM_004612.4(TGFBR1):c.*4804dup rs561572489
NM_004612.4(TGFBR1):c.*502T>G rs201269197
NM_004612.4(TGFBR1):c.*512_*516del rs777186940
NM_004612.4(TGFBR1):c.*709C>T rs886063228
NM_004612.4(TGFBR1):c.*756C>A rs200926268
NM_004612.4(TGFBR1):c.-43C>A rs886063219
NM_004612.4(TGFBR1):c.-56G>A rs1826365648
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg) rs886042300
NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys) rs1360080681
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser) rs886063222
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.97+15GGCG[4] rs886063221
NM_005901.6(SMAD2):c.998G>A (p.Gly333Glu)
NM_005902.4(SMAD3):c.*1326A>G rs886051392
NM_005902.4(SMAD3):c.*1355C>G rs886051393
NM_005902.4(SMAD3):c.*1443C>A rs886051394
NM_005902.4(SMAD3):c.*1493C>A rs886051395
NM_005902.4(SMAD3):c.*1515C>A rs886051396
NM_005902.4(SMAD3):c.*1548G>T rs886051397
NM_005902.4(SMAD3):c.*1597G>C rs886051398
NM_005902.4(SMAD3):c.*1614C>A rs886051399
NM_005902.4(SMAD3):c.*1641T>G rs886051400
NM_005902.4(SMAD3):c.*1644T>G rs886051401
NM_005902.4(SMAD3):c.*1695G>T rs886051402
NM_005902.4(SMAD3):c.*1749G>T rs886051403
NM_005902.4(SMAD3):c.*1767G>C rs533635017
NM_005902.4(SMAD3):c.*1784G>T rs886051404
NM_005902.4(SMAD3):c.*1790G>A rs530788405
NM_005902.4(SMAD3):c.*1800_*1803del rs141408841
NM_005902.4(SMAD3):c.*1820G>T rs886051407
NM_005902.4(SMAD3):c.*1831G>T rs886051408
NM_005902.4(SMAD3):c.*1853C>A rs886051409
NM_005902.4(SMAD3):c.*1915G>A rs961459942
NM_005902.4(SMAD3):c.*195G>T rs886051381
NM_005902.4(SMAD3):c.*2026T>C rs886051410
NM_005902.4(SMAD3):c.*2038G>T rs886051411
NM_005902.4(SMAD3):c.*2245C>A rs886051412
NM_005902.4(SMAD3):c.*2251C>A rs886051413
NM_005902.4(SMAD3):c.*2291C>A rs886051414
NM_005902.4(SMAD3):c.*2303G>C rs886051415
NM_005902.4(SMAD3):c.*2453C>A rs886051416
NM_005902.4(SMAD3):c.*2476A>C rs886051417
NM_005902.4(SMAD3):c.*2573G>T rs886051418
NM_005902.4(SMAD3):c.*2580C>A rs886051419
NM_005902.4(SMAD3):c.*2596G>T rs886051420
NM_005902.4(SMAD3):c.*2891C>A rs886051421
NM_005902.4(SMAD3):c.*292G>T rs886051382
NM_005902.4(SMAD3):c.*2963A>C rs886051422
NM_005902.4(SMAD3):c.*304C>T rs565932125
NM_005902.4(SMAD3):c.*30C>T rs201206131
NM_005902.4(SMAD3):c.*3120G>T rs886051423
NM_005902.4(SMAD3):c.*3129C>T rs886051424
NM_005902.4(SMAD3):c.*3147G>T rs886051425
NM_005902.4(SMAD3):c.*3148T>C rs886051426
NM_005902.4(SMAD3):c.*3174del rs886051427
NM_005902.4(SMAD3):c.*3174dup rs886051427
NM_005902.4(SMAD3):c.*3512A>G rs886051429
NM_005902.4(SMAD3):c.*3661G>A rs886051430
NM_005902.4(SMAD3):c.*3719C>T rs886051431
NM_005902.4(SMAD3):c.*3738C>T rs886051432
NM_005902.4(SMAD3):c.*4195G>A rs886051433
NM_005902.4(SMAD3):c.*4445C>T rs886051434
NM_005902.4(SMAD3):c.*4556C>A rs886051435
NM_005902.4(SMAD3):c.*4556C>T rs886051435
NM_005902.4(SMAD3):c.*495C>A rs886051383
NM_005902.4(SMAD3):c.*552G>T rs769408016
NM_005902.4(SMAD3):c.*573G>T rs886051384
NM_005902.4(SMAD3):c.*594C>T rs1963353753
NM_005902.4(SMAD3):c.*609A>G rs564556206
NM_005902.4(SMAD3):c.*632C>A rs886051386
NM_005902.4(SMAD3):c.*656C>A rs886051387
NM_005902.4(SMAD3):c.*678C>A rs886051388
NM_005902.4(SMAD3):c.*937T>C rs1272484755
NM_005902.4(SMAD3):c.*981C>A rs886051390
NM_005902.4(SMAD3):c.-100C>T rs886051379
NM_005902.4(SMAD3):c.-115C>T rs556470157
NM_005902.4(SMAD3):c.-139C>G rs1595881947
NM_005902.4(SMAD3):c.-164A>C rs886051378
NM_005902.4(SMAD3):c.-168C>A rs886051377
NM_005902.4(SMAD3):c.-217C>T rs886051376
NM_005902.4(SMAD3):c.-240G>T rs886051375
NM_005902.4(SMAD3):c.-280C>A rs886051372
NM_005902.4(SMAD3):c.-38C>T rs909267391
NM_005902.4(SMAD3):c.12C>T (p.Ile4=) rs1595882053
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928

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