NM_004612.4(TGFBR1):c.*2103T>G
|
rs7871490
|
0.12488
|
NM_004612.4(TGFBR1):c.*2112G>T
|
rs60885995
|
0.03132
|
NM_003238.6(TGFB2):c.-620G>A
|
rs886045971
|
0.01029
|
NM_004612.4(TGFBR1):c.*2081G>T
|
rs200898127
|
0.00465
|
NM_004612.4(TGFBR1):c.*2092G>T
|
rs199545273
|
0.00369
|
NM_003238.6(TGFB2):c.-644A>G
|
rs747761067
|
0.00246
|
NM_000138.5(FBN1):c.*1252A>G
|
rs566419089
|
0.00150
|
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.*742C>T
|
rs17026328
|
0.00125
|
NM_003242.6(TGFBR2):c.*2066G>A
|
rs566913021
|
0.00116
|
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_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_005902.4(SMAD3):c.*1315C>T
|
rs886051391
|
0.00070
|
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.*1341C>T
|
rs766719764
|
0.00061
|
NM_005902.4(SMAD3):c.*1583T>G
|
rs577631492
|
0.00058
|
NM_005902.4(SMAD3):c.*2028T>C
|
rs549152312
|
0.00041
|
NM_003238.6(TGFB2):c.*2053G>A
|
rs530767727
|
0.00039
|
NM_004612.4(TGFBR1):c.*1772A>C
|
rs201191009
|
0.00035
|
NM_004612.4(TGFBR1):c.*4366A>G
|
rs199892683
|
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_004612.4(TGFBR1):c.*1240G>A
|
rs200689459
|
0.00034
|
NM_004612.4(TGFBR1):c.*311G>A
|
rs200804500
|
0.00034
|
NM_004612.4(TGFBR1):c.*3779C>T
|
rs201887512
|
0.00031
|
NM_000138.5(FBN1):c.*1720C>T
|
rs557301792
|
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_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_000138.5(FBN1):c.*1706C>A
|
rs770825180
|
0.00024
|
NM_003238.6(TGFB2):c.*45A>G
|
rs769232186
|
0.00024
|
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_005902.4(SMAD3):c.-244G>A
|
rs886051374
|
0.00022
|
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.3590-8T>C
|
rs140600
|
0.00018
|
NM_004612.4(TGFBR1):c.*3314A>G
|
rs200374520
|
0.00018
|
NM_005902.4(SMAD3):c.-265T>G
|
rs886051373
|
0.00017
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
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_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_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_003238.6(TGFB2):c.*589C>A
|
rs886045981
|
0.00010
|
NM_003242.5(TGFBR2):c.-371A>C
|
rs886058297
|
0.00010
|
NM_004612.4(TGFBR1):c.*4293A>G
|
rs201453868
|
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_003238.6(TGFB2):c.*1428T>C
|
rs770610828
|
0.00009
|
NM_003238.6(TGFB2):c.*2352T>G
|
rs537275941
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
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.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_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_003238.6(TGFB2):c.-1249G>A
|
rs1002933360
|
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.*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.5724A>G (p.Thr1908=)
|
rs141219664
|
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_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_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.*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.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.*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.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_003242.6(TGFBR2):c.*579T>C
|
rs1259191128
|
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.*202_*203del
|
rs766125141
|
0.00001
|
NM_000138.5(FBN1):c.*252G>A
|
rs1407193739
|
0.00001
|
NM_000138.5(FBN1):c.*968G>A
|
rs999275120
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
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.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.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.*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.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.-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_005902.4(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.*1635C>A
|
rs886051232
|
|
NM_000138.5(FBN1):c.*1733A>G
|
rs886051230
|
|
NM_000138.5(FBN1):c.*1943G>T
|
rs886051229
|
|
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.*987C>T
|
rs886051237
|
|
NM_000138.5(FBN1):c.-108G>A
|
rs1029606067
|
|
NM_000138.5(FBN1):c.-132A>C
|
rs886051255
|
|
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.3224G>A (p.Arg1075His)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly)
|
rs2043513994
|
|
NM_000138.5(FBN1):c.443-15C>A
|
rs2044516377
|
|
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
|
|
|
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.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.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_001407129.1(TGFBR2):c.-109C>T
|
rs1697919506
|
|
NM_003238.6(TGFB2):c.*1233dup
|
rs532376886
|
|
NM_003238.6(TGFB2):c.*1431A>C
|
rs1660199096
|
|
NM_003238.6(TGFB2):c.*2359_*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.-101A>G
|
rs1656685944
|
|
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.-514T>C
|
rs1656669231
|
|
NM_003238.6(TGFB2):c.-542C>T
|
rs886045973
|
|
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+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.*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.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.*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.*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.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.*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.*3661G>A
|
rs886051430
|
|
NM_005902.4(SMAD3):c.*3738C>T
|
rs886051432
|
|
NM_005902.4(SMAD3):c.*4195G>A
|
rs886051433
|
|
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.*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.-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
|
|