NM_004612.4(TGFBR1):c.*2103T>G
|
rs7871490
|
0.12488
|
NM_004612.4(TGFBR1):c.*2081G>T
|
rs200898127
|
0.00465
|
NM_004612.4(TGFBR1):c.*2092G>T
|
rs199545273
|
0.00369
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_003242.6(TGFBR2):c.*742C>T
|
rs17026328
|
0.00125
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_005902.4(SMAD3):c.*1315C>T
|
rs886051391
|
0.00070
|
NM_004612.4(TGFBR1):c.*1772A>C
|
rs201191009
|
0.00035
|
NM_003242.6(TGFBR2):c.-193G>A
|
rs886058301
|
0.00034
|
NM_004612.4(TGFBR1):c.*311G>A
|
rs200804500
|
0.00034
|
NM_005902.4(SMAD3):c.*2046T>C
|
rs761162475
|
0.00028
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_004612.4(TGFBR1):c.*2095T>G
|
rs201780012
|
0.00023
|
NM_004612.4(TGFBR1):c.*2799C>T
|
rs200274678
|
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.*3314A>G
|
rs200374520
|
0.00018
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
NM_004612.4(TGFBR1):c.*3382T>G
|
rs200080374
|
0.00012
|
NM_004612.4(TGFBR1):c.*2410C>T
|
rs200722893
|
0.00011
|
NM_003242.5(TGFBR2):c.-371A>C
|
rs886058297
|
0.00010
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
NM_003242.5(TGFBR2):c.-307C>T
|
rs749340193
|
0.00006
|
NM_005902.4(SMAD3):c.*626C>T
|
rs886051385
|
0.00005
|
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.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
NM_053025.4(MYLK):c.3982G>A (p.Val1328Met)
|
rs730880164
|
0.00004
|
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.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
NM_004612.4(TGFBR1):c.*1959G>T
|
rs886063237
|
0.00003
|
NM_004612.4(TGFBR1):c.*4793A>G
|
rs77001090
|
0.00003
|
NM_005902.4(SMAD3):c.*2573G>A
|
rs886051418
|
0.00003
|
NM_004612.4(TGFBR1):c.*3482C>G
|
rs201952588
|
0.00002
|
NM_004612.4(TGFBR1):c.*4147G>A
|
rs570685518
|
0.00002
|
NM_003238.6(TGFB2):c.*782del
|
rs886045983
|
0.00001
|
NM_003242.6(TGFBR2):c.*1201C>T
|
rs886058318
|
0.00001
|
NM_003242.6(TGFBR2):c.*1998G>A
|
rs886058325
|
0.00001
|
NM_003242.6(TGFBR2):c.-117G>A
|
rs886058302
|
0.00001
|
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)
|
rs886058304
|
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.*3056C>A
|
rs886063249
|
0.00001
|
NM_004612.4(TGFBR1):c.*3790C>T
|
rs201101442
|
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.1010-12T>C
|
rs773629535
|
0.00001
|
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser)
|
rs369221296
|
0.00001
|
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)
|
rs794728263
|
|
NM_000393.5(COL5A2):c.2795T>C (p.Leu932Pro)
|
rs730880067
|
|
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)
|
rs1554063781
|
|
NM_003238.6(TGFB2):c.*1233dup
|
rs532376886
|
|
NM_003238.6(TGFB2):c.*2359_*2361del
|
rs3054943
|
|
NM_003238.6(TGFB2):c.*2361del
|
rs3054943
|
|
NM_003238.6(TGFB2):c.*323CAA[9]
|
rs11118106
|
|
NM_003238.6(TGFB2):c.-1278AAGAGA[3]
|
rs886045957
|
|
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.-652GCACAC[3]
|
rs765496001
|
|
NM_003238.6(TGFB2):c.510+12TTG[12]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[8]
|
rs10482769
|
|
NM_003242.5(TGFBR2):c.-344C>A
|
rs886058298
|
|
NM_003242.6(TGFBR2):c.*1211A>T
|
rs886058319
|
|
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.*226C>A
|
rs886058307
|
|
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.*997T>A
|
rs886058317
|
|
NM_003242.6(TGFBR2):c.-18C>A
|
rs753369354
|
|
NM_003242.6(TGFBR2):c.-228C>A
|
rs886058300
|
|
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.472C>T (p.Pro158Ser)
|
rs886058303
|
|
NM_003242.6(TGFBR2):c.773T>A (p.Val258Asp)
|
rs869025536
|
|
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)
|
rs781018006
|
|
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.*1924G>T
|
rs886063236
|
|
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.*2547A>G
|
rs886063243
|
|
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.*309C>T
|
rs886063226
|
|
NM_004612.4(TGFBR1):c.*3317C>G
|
rs201113438
|
|
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.*3881G>T
|
rs886063254
|
|
NM_004612.4(TGFBR1):c.*4055G>T
|
rs886063255
|
|
NM_004612.4(TGFBR1):c.*4088G>T
|
rs886063256
|
|
NM_004612.4(TGFBR1):c.*4467C>A
|
rs886063257
|
|
NM_004612.4(TGFBR1):c.*4804dup
|
rs561572489
|
|
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.1443T>A (p.Ala481=)
|
rs886063225
|
|
NM_004612.4(TGFBR1):c.344-74del
|
rs193922675
|
|
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser)
|
rs886063222
|
|
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=)
|
rs886063224
|
|
NM_004612.4(TGFBR1):c.97+15GGCG[4]
|
rs886063221
|
|
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.*1644T>G
|
rs886051401
|
|
NM_005902.4(SMAD3):c.*1695G>T
|
rs886051402
|
|
NM_005902.4(SMAD3):c.*1749G>T
|
rs886051403
|
|
NM_005902.4(SMAD3):c.*1784G>T
|
rs886051404
|
|
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.*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.*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.*573G>T
|
rs886051384
|
|
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.*981C>A
|
rs886051390
|
|
NM_005902.4(SMAD3):c.-168C>A
|
rs886051377
|
|
NM_005902.4(SMAD3):c.-217C>T
|
rs886051376
|
|
NM_005902.4(SMAD3):c.-280C>A
|
rs886051372
|
|
NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro)
|
rs730880213
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe)
|
rs764656928
|
|