NM_001129.5(AEBP1):c.2218-37dup
|
rs11377645
|
1.00000
|
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=)
|
rs9924504
|
0.99996
|
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=)
|
rs904783
|
0.99962
|
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)
|
rs2734272
|
0.99956
|
NM_000088.4(COL1A1):c.2830-33C>G
|
rs2586489
|
0.99956
|
NM_000093.5(COL5A1):c.-247T>G
|
rs71483234
|
0.99656
|
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg)
|
rs1983014
|
0.99622
|
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala)
|
rs7199961
|
0.99603
|
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)
|
rs1516446
|
0.99509
|
NM_007255.3(B4GALT7):c.828+28A>G
|
rs6600953
|
0.99130
|
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=)
|
rs4782362
|
0.98833
|
NM_001367624.2(ZNF469):c.*788G>A
|
rs3894713
|
0.98791
|
NM_000088.4(COL1A1):c.3223= (p.Ala1075=)
|
rs1800215
|
0.97286
|
NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=)
|
rs6434312
|
0.96092
|
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=)
|
rs2229495
|
0.95762
|
NM_013352.4(DSE):c.1926T>C (p.Asn642=)
|
rs560644
|
0.95438
|
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly)
|
rs2010519
|
0.94826
|
NM_000393.5(COL5A2):c.315C>A (p.Thr105=)
|
rs4128539
|
0.93266
|
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=)
|
rs423552
|
0.93088
|
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=)
|
rs9931465
|
0.89293
|
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=)
|
rs9938800
|
0.89252
|
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=)
|
rs594012
|
0.87913
|
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)
|
rs4782300
|
0.87223
|
NM_000393.5(COL5A2):c.322+157C>T
|
rs4128538
|
0.86911
|
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=)
|
rs12927001
|
0.86712
|
NM_000088.4(COL1A1):c.2028+39C>T
|
rs2857396
|
0.85962
|
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=)
|
rs12445417
|
0.85761
|
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser)
|
rs11640794
|
0.84448
|
NM_000089.4(COL1A2):c.936+14C>T
|
rs42518
|
0.81710
|
NM_000089.4(COL1A2):c.937-3C>T
|
rs42519
|
0.81243
|
NM_001367624.2(ZNF469):c.*1001A>G
|
rs3848234
|
0.80892
|
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)
|
rs42524
|
0.80779
|
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu)
|
rs7197071
|
0.80067
|
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=)
|
rs4782301
|
0.77860
|
NM_000093.5(COL5A1):c.*2395G>T
|
rs4504708
|
0.76943
|
NM_000093.5(COL5A1):c.*83C>T
|
rs13946
|
0.76018
|
NM_001129.5(AEBP1):c.996A>G (p.Thr332=)
|
rs2595701
|
0.75024
|
NM_014244.5(ADAMTS2):c.*1468A>G
|
rs2059776
|
0.72686
|
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)
|
rs970547
|
0.72620
|
NM_004370.6(COL12A1):c.5525-132A>G
|
rs1332778
|
0.71264
|
NM_000090.4(COL3A1):c.2337+23T>A
|
rs2271682
|
0.71236
|
NM_000093.5(COL5A1):c.4955-28T>C
|
rs7868111
|
0.71059
|
NM_000088.4(COL1A1):c.1984-41G>A
|
rs2586490
|
0.70223
|
NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu)
|
rs1009382
|
0.68787
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
NM_000093.5(COL5A1):c.*1125A>T
|
rs1134170
|
0.66610
|
NM_000088.4(COL1A1):c.3261+31T>C
|
rs2586488
|
0.66062
|
NM_000093.5(COL5A1):c.4608+31T>C
|
rs9697186
|
0.65324
|
NM_000093.5(COL5A1):c.2701-22C>T
|
rs4072883
|
0.65253
|
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=)
|
rs11537644
|
0.65175
|
NM_004370.6(COL12A1):c.7086+44C>G
|
rs499018
|
0.64589
|
NM_000093.5(COL5A1):c.1332+92C>G
|
rs3124310
|
0.64521
|
NM_001365276.2(TNXB):c.7440T>C (p.Tyr2480=)
|
rs204887
|
0.63524
|
NM_000093.5(COL5A1):c.*2501T>C
|
rs3128575
|
0.63348
|
NM_000093.5(COL5A1):c.4230+103T>C
|
rs11792894
|
0.61932
|
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=)
|
rs12918876
|
0.60216
|
NM_007255.3(B4GALT7):c.777T>C (p.His259=)
|
rs729459
|
0.58812
|
NM_000093.5(COL5A1):c.1432-5T>C
|
rs3128612
|
0.57159
|
NM_000093.5(COL5A1):c.1432-24C>T
|
rs3109677
|
0.57123
|
NM_001365276.2(TNXB):c.*163G>A
|
rs1058152
|
0.54891
|
NM_000088.4(COL1A1):c.299-20C>G
|
rs2256835
|
0.54824
|
NM_001365276.2(TNXB):c.11531-25T>C
|
rs2856451
|
0.54722
|
NM_001365276.2(TNXB):c.7251A>G (p.Leu2417=)
|
rs204886
|
0.53630
|
NM_014874.3(MFN2):c.-212T>C
|
rs2180183
|
0.53102
|
NM_014874.3(MFN2):c.-367A>G
|
rs2236054
|
0.52635
|
NM_000088.4(COL1A1):c.4249-12G>A
|
rs2249492
|
0.52233
|
NM_000093.5(COL5A1):c.2952+11A>T
|
rs4240707
|
0.51337
|
NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg)
|
rs185819
|
0.51248
|
NM_000093.5(COL5A1):c.2845-37A>G
|
rs3811159
|
0.48658
|
NM_014244.5(ADAMTS2):c.2291-43T>C
|
rs2251105
|
0.47685
|
NM_000093.5(COL5A1):c.4176+48A>G
|
rs10858283
|
0.47462
|
NM_000093.5(COL5A1):c.4176+35A>C
|
rs10776910
|
0.47443
|
NM_014244.5(ADAMTS2):c.*212A>C
|
rs10479525
|
0.47333
|
NM_014244.5(ADAMTS2):c.975+151T>A
|
rs1862212
|
0.47156
|
NM_014244.5(ADAMTS2):c.*842T>C
|
rs10038484
|
0.46646
|
NM_001365276.2(TNXB):c.11387-45T>C
|
rs397948
|
0.46540
|
NM_014244.5(ADAMTS2):c.2618-54C>T
|
rs2303643
|
0.46469
|
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln)
|
rs1105066
|
0.44478
|
NM_001129.5(AEBP1):c.3397A>G (p.Lys1133Glu)
|
rs13928
|
0.44136
|
NM_000093.5(COL5A1):c.*267C>T
|
rs12722
|
0.43648
|
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=)
|
rs3812953
|
0.43642
|
NM_004370.6(COL12A1):c.5395-29G>A
|
rs1332020
|
0.42606
|
NM_000093.5(COL5A1):c.1332+46T>C
|
rs3109675
|
0.41683
|
NM_000093.5(COL5A1):c.787-42C>T
|
rs3124302
|
0.39339
|
NM_000093.5(COL5A1):c.925-49A>G
|
rs3124308
|
0.39183
|
NM_000093.5(COL5A1):c.925-43G>A
|
rs3128598
|
0.39167
|
NM_018699.4(PRDM5):c.744-38C>T
|
rs2136998
|
0.38181
|
NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=)
|
rs204883
|
0.37626
|
NM_000093.5(COL5A1):c.2430+20C>T
|
rs3124932
|
0.36473
|
NM_001129.5(AEBP1):c.817C>A (p.Pro273Thr)
|
rs2537188
|
0.36288
|
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg)
|
rs12598474
|
0.36151
|
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=)
|
rs412777
|
0.35874
|
NM_000093.5(COL5A1):c.738C>T (p.Thr246=)
|
rs3124299
|
0.34823
|
NM_014244.5(ADAMTS2):c.534+9G>C
|
rs2271213
|
0.33886
|
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=)
|
rs2271212
|
0.33047
|
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile)
|
rs398829
|
0.32945
|
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln)
|
rs3812956
|
0.32763
|
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=)
|
rs1130529
|
0.32745
|
NM_000093.5(COL5A1):c.4230+118C>T
|
rs7847840
|
0.32683
|
NM_000093.5(COL5A1):c.4176+9T>G
|
rs10858282
|
0.31743
|
NM_014244.5(ADAMTS2):c.*2396C>T
|
rs3797615
|
0.30656
|
NM_000093.5(COL5A1):c.1569+16A>G
|
rs12685946
|
0.29746
|
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr)
|
rs240736
|
0.29412
|
NM_018699.4(PRDM5):c.681A>G (p.Leu227=)
|
rs343192
|
0.28756
|
NM_000089.4(COL1A2):c.1665+15A>G
|
rs421587
|
0.28734
|
NM_004612.4(TGFBR1):c.*884A>G
|
rs334348
|
0.28211
|
NM_001128225.3(SLC39A13):c.301+20C>T
|
rs755555
|
0.27982
|
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)
|
rs1801184
|
0.27758
|
NM_000093.5(COL5A1):c.1720-48T>C
|
rs10123014
|
0.27505
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_001365276.2(TNXB):c.6842-24C>T
|
rs2239689
|
0.25409
|
NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile)
|
rs17421133
|
0.25264
|
NM_000089.4(COL1A2):c.246T>C (p.Asp82=)
|
rs1800222
|
0.25224
|
NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=)
|
rs2293576
|
0.25113
|
NM_014244.5(ADAMTS2):c.*1486C>A
|
rs1863918
|
0.24649
|
NM_000302.4(PLOD1):c.294C>T (p.Phe98=)
|
rs7529452
|
0.24445
|
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=)
|
rs1972715
|
0.24390
|
NM_014244.5(ADAMTS2):c.1952-82T>A
|
rs1549603
|
0.24380
|
NM_001367624.2(ZNF469):c.*8G>A
|
rs45504291
|
0.24166
|
NM_014244.5(ADAMTS2):c.2291-193G>A
|
rs2303645
|
0.23837
|
NM_014244.5(ADAMTS2):c.*1586A>G
|
rs888760
|
0.23763
|
NM_014244.5(ADAMTS2):c.1629+24G>C
|
rs2303637
|
0.23704
|
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser)
|
rs1054480
|
0.23682
|
NM_014244.5(ADAMTS2):c.*2951G>A
|
rs1044205
|
0.23671
|
NM_014244.5(ADAMTS2):c.*2952T>A
|
rs1044209
|
0.23661
|
NM_000090.4(COL3A1):c.3824-31C>A
|
rs10204508
|
0.23605
|
NM_000090.4(COL3A1):c.1978-11C>T
|
rs13306272
|
0.23521
|
NM_013352.4(DSE):c.74C>T (p.Thr25Ile)
|
rs10485183
|
0.23388
|
NM_000090.4(COL3A1):c.*799_*800del
|
rs13306265
|
0.23375
|
NM_000088.4(COL1A1):c.588+33T>C
|
rs35231764
|
0.22664
|
NM_000093.5(COL5A1):c.3475-42G>C
|
rs3811152
|
0.22492
|
NM_000093.5(COL5A1):c.1570-59T>C
|
rs12686426
|
0.22376
|
NM_014244.5(ADAMTS2):c.2959-17C>T
|
rs2303641
|
0.21622
|
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
NM_000093.5(COL5A1):c.1720-34C>T
|
rs73558067
|
0.20873
|
NM_000093.5(COL5A1):c.*894T>C
|
rs11103544
|
0.20603
|
NM_014244.5(ADAMTS2):c.1630-18T>C
|
rs2303638
|
0.20408
|
NM_000089.4(COL1A2):c.*194C>T
|
rs1060399
|
0.20320
|
NM_014244.5(ADAMTS2):c.1238+18G>A
|
rs2278222
|
0.20277
|
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=)
|
rs2278221
|
0.20236
|
NM_001128225.3(SLC39A13):c.301+15G>A
|
rs61000762
|
0.20155
|
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=)
|
rs12499000
|
0.19996
|
NM_000093.5(COL5A1):c.1332+25C>T
|
rs56385965
|
0.19286
|
NM_000093.5(COL5A1):c.4177-107T>C
|
rs7854010
|
0.19207
|
NM_014244.5(ADAMTS2):c.1132+135G>A
|
rs41285551
|
0.19040
|
NM_000088.4(COL1A1):c.3815-35T>C
|
rs2277632
|
0.18865
|
NM_014244.5(ADAMTS2):c.1776-26G>A
|
rs9286045
|
0.18560
|
NM_014244.5(ADAMTS2):c.1133-57C>T
|
rs4700784
|
0.18228
|
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=)
|
rs2303644
|
0.17766
|
NM_014244.5(ADAMTS2):c.858C>T (p.His286=)
|
rs66565583
|
0.17241
|
NM_004612.4(TGFBR1):c.*69A>G
|
rs868
|
0.17222
|
NM_000093.5(COL5A1):c.2431-25G>A
|
rs41310213
|
0.16712
|
NM_000090.4(COL3A1):c.1816-14G>C
|
rs7579815
|
0.15982
|
NM_000088.4(COL1A1):c.*744C>T
|
rs1061947
|
0.15959
|
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)
|
rs7579903
|
0.15955
|
NM_000093.5(COL5A1):c.1720-47C>T
|
rs79679217
|
0.15948
|
NM_000093.5(COL5A1):c.1827+45G>A
|
rs11103502
|
0.15221
|
NM_001365276.2(TNXB):c.2761T>G (p.Ser921Ala)
|
rs204900
|
0.14952
|
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_000393.5(COL5A2):c.852+14C>T
|
rs56310996
|
0.14063
|
NM_000088.4(COL1A1):c.1930-14T>C
|
rs2696247
|
0.13425
|
NM_014244.5(ADAMTS2):c.1516-138A>G
|
rs11746123
|
0.13423
|
NM_000090.4(COL3A1):c.1293+15T>A
|
rs2271679
|
0.13320
|
NM_000093.5(COL5A1):c.1936-35C>A
|
rs10858278
|
0.13121
|
NM_014244.5(ADAMTS2):c.534+50T>C
|
rs2271214
|
0.13091
|
NM_000393.5(COL5A2):c.568-10G>A
|
rs58106884
|
0.13056
|
NM_000393.5(COL5A2):c.337-26T>C
|
rs56380683
|
0.13043
|
NM_001365276.2(TNXB):c.7483G>A (p.Gly2495Ser)
|
rs2269429
|
0.12889
|
NM_000089.4(COL1A2):c.87T>C (p.Thr29=)
|
rs1801182
|
0.12315
|
NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala)
|
rs61897432
|
0.11400
|
NM_004370.6(COL12A1):c.8265+19A>T
|
rs9447445
|
0.11270
|
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=)
|
rs61472141
|
0.10977
|
NM_004370.6(COL12A1):c.1892-8_1892-6del
|
rs199713791
|
0.10881
|
NM_000093.5(COL5A1):c.3745-37G>A
|
rs45629034
|
0.10800
|
NM_000093.5(COL5A1):c.3745-18G>A
|
rs45556931
|
0.10766
|
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp)
|
rs12085009
|
0.10007
|
NM_014244.5(ADAMTS2):c.*847C>T
|
rs78622875
|
0.09771
|
NM_014244.5(ADAMTS2):c.*853G>T
|
rs17666900
|
0.09770
|
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg)
|
rs28723506
|
0.09509
|
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)
|
rs13334190
|
0.09442
|
NM_000089.4(COL1A2):c.*804G>T
|
rs1062394
|
0.09387
|
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_000393.5(COL5A2):c.*1402T>G
|
rs11186
|
0.09269
|
NM_000093.5(COL5A1):c.2593-45G>A
|
rs45497895
|
0.08250
|
NM_001367624.2(ZNF469):c.*46C>A
|
rs78600508
|
0.08121
|
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)
|
rs41306391
|
0.08110
|
NM_000090.4(COL3A1):c.1815+18A>G
|
rs28413125
|
0.08030
|
NM_000093.5(COL5A1):c.1569+15C>T
|
rs62574081
|
0.07860
|
NM_000088.4(COL1A1):c.859-14T>G
|
rs17639446
|
0.07746
|
NM_000393.5(COL5A2):c.*392T>C
|
rs1131518
|
0.07495
|
NM_000093.5(COL5A1):c.2646+27C>T
|
rs13301426
|
0.07414
|
NM_000393.5(COL5A2):c.*298G>A
|
rs7586
|
0.07221
|
NM_000093.5(COL5A1):c.110-34C>T
|
rs72772548
|
0.07019
|
NM_000093.5(COL5A1):c.*311C>T
|
rs1134114
|
0.06809
|
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu)
|
rs141218390
|
0.06780
|
NM_000393.5(COL5A2):c.315= (p.Thr105=)
|
rs4128539
|
0.06734
|
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)
|
rs61729545
|
0.06122
|
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val)
|
rs3812954
|
0.06060
|
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=)
|
rs111557381
|
0.06017
|
NM_000393.5(COL5A2):c.*639G>A
|
rs73981487
|
0.05878
|
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=)
|
rs2230898
|
0.05658
|
NM_013352.4(DSE):c.1142T>C (p.Val381Ala)
|
rs41313440
|
0.05356
|
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val)
|
rs35710072
|
0.05341
|
NM_001128225.3(SLC39A13):c.83= (p.Glu28=)
|
rs2010519
|
0.05174
|
NM_000393.5(COL5A2):c.*1165G>A
|
rs13914
|
0.04890
|
NM_014244.5(ADAMTS2):c.2291-8A>G
|
rs140401199
|
0.04871
|
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=)
|
rs1800218
|
0.04610
|
NM_000093.5(COL5A1):c.4447-45G>A
|
rs3811147
|
0.04567
|
NM_013352.4(DSE):c.1926= (p.Asn642=)
|
rs560644
|
0.04562
|
NM_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)
|
rs113937803
|
0.04541
|
NM_001365276.2(TNXB):c.7168+5G>A
|
rs204885
|
0.04539
|
NM_000093.5(COL5A1):c.2745+15A>T
|
rs79481146
|
0.04340
|
NM_000302.4(PLOD1):c.644-17T>G
|
rs41307745
|
0.04239
|
NM_000393.5(COL5A2):c.1311= (p.Pro437=)
|
rs2229495
|
0.04238
|
NM_014244.5(ADAMTS2):c.1383-22C>T
|
rs115740207
|
0.04147
|
NM_013352.4(DSE):c.101C>T (p.Pro34Leu)
|
rs35548455
|
0.04141
|
NM_014244.5(ADAMTS2):c.*2439C>T
|
rs78886769
|
0.04139
|
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=)
|
rs74032864
|
0.04134
|
NM_000088.4(COL1A1):c.177G>T (p.Arg59=)
|
rs1057297
|
0.04003
|
NM_001365276.2(TNXB):c.5713G>A (p.Glu1905Lys)
|
rs17207923
|
0.03984
|
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=)
|
rs6869261
|
0.03924
|
NM_000093.5(COL5A1):c.3475-36A>C
|
rs13297647
|
0.03921
|
NM_000093.5(COL5A1):c.3528+43G>A
|
rs41306395
|
0.03911
|
NM_000393.5(COL5A2):c.3411= (p.Gly1137=)
|
rs6434312
|
0.03908
|
NM_000093.5(COL5A1):c.2700+46C>T
|
rs34636935
|
0.03889
|
NM_001365276.2(TNXB):c.9631C>G (p.Arg3211Gly)
|
rs41270450
|
0.03853
|
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)
|
rs2228559
|
0.03652
|
NM_018699.4(PRDM5):c.849G>A (p.Gln283=)
|
rs17051264
|
0.03566
|
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val)
|
rs35523808
|
0.03556
|
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_014244.5(ADAMTS2):c.2959-16G>A
|
rs6863024
|
0.03326
|
NM_001365276.2(TNXB):c.4241G>A (p.Arg1414Gln)
|
rs9267799
|
0.03318
|
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_013352.4(DSE):c.53G>T (p.Cys18Phe)
|
rs76186865
|
0.03160
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_000089.4(COL1A2):c.3712-13C>T
|
rs74335369
|
0.03051
|
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=)
|
rs1862211
|
0.02988
|
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)
|
rs2228047
|
0.02974
|
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr)
|
rs3812955
|
0.02902
|
NM_013352.4(DSE):c.844A>G (p.Ile282Val)
|
rs34994230
|
0.02817
|
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=)
|
rs35462609
|
0.02744
|
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr)
|
rs1800215
|
0.02714
|
NM_000093.5(COL5A1):c.4230+6G>A
|
rs77176843
|
0.02700
|
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_014244.5(ADAMTS2):c.1281C>T (p.Asp427=)
|
rs34424371
|
0.02621
|
NM_004370.6(COL12A1):c.4001-10G>A
|
rs73749974
|
0.02617
|
NM_000089.4(COL1A2):c.1878G>T (p.Val626=)
|
rs1800238
|
0.02599
|
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln)
|
rs35445112
|
0.02575
|
NM_000093.5(COL5A1):c.4393-9C>T
|
rs11792181
|
0.02555
|
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_001367624.2(ZNF469):c.4434C>T (p.Ser1478=)
|
rs74032865
|
0.02534
|
NM_000302.4(PLOD1):c.1329-20G>A
|
rs78527487
|
0.02519
|
NM_001365276.2(TNXB):c.7377C>T (p.Gly2459=)
|
rs59619270
|
0.02517
|
NM_001365276.2(TNXB):c.4332C>T (p.His1444=)
|
rs61998168
|
0.02515
|
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)
|
rs34383505
|
0.02500
|
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=)
|
rs35429515
|
0.02487
|
NM_000093.5(COL5A1):c.2232+36C>T
|
rs45622539
|
0.02468
|
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=)
|
rs148616993
|
0.02438
|
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr)
|
rs75535959
|
0.02433
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_018699.4(PRDM5):c.660G>A (p.Gln220=)
|
rs74320998
|
0.02419
|
NM_000093.5(COL5A1):c.1935+8T>G
|
rs79195626
|
0.02373
|
NM_000090.4(COL3A1):c.*43A>G
|
rs8224
|
0.02368
|
NM_000093.5(COL5A1):c.*1642G>A
|
rs116053626
|
0.02360
|
NM_000093.5(COL5A1):c.*1922G>A
|
rs74979726
|
0.02332
|
NM_000302.4(PLOD1):c.*71C>G
|
rs2230899
|
0.02327
|
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=)
|
rs150233193
|
0.02319
|
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg)
|
rs3812951
|
0.02265
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly)
|
rs59567206
|
0.02208
|
NM_000393.5(COL5A2):c.*2131T>A
|
rs113513554
|
0.02206
|
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys)
|
rs116072997
|
0.02164
|
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=)
|
rs60462217
|
0.02154
|
NM_001365276.2(TNXB):c.9641G>T (p.Gly3214Val)
|
rs9267795
|
0.02152
|
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu)
|
rs115183769
|
0.02140
|
NM_000302.4(PLOD1):c.1788G>T (p.Val596=)
|
rs35460537
|
0.02126
|
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=)
|
rs879691
|
0.02109
|
NM_007255.3(B4GALT7):c.828+20T>C
|
rs755873
|
0.02090
|
NM_000093.5(COL5A1):c.2034+24C>T
|
rs41298367
|
0.02041
|
NM_014244.5(ADAMTS2):c.*2918G>A
|
rs60250623
|
0.02037
|
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His)
|
rs79830915
|
0.02025
|
NM_001365276.2(TNXB):c.9050A>G (p.Lys3017Arg)
|
rs17207895
|
0.02019
|
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=)
|
rs76442115
|
0.02017
|
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg)
|
rs75136873
|
0.02017
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
NM_000302.4(PLOD1):c.77-3407C>T
|
rs75220940
|
0.01953
|
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr)
|
rs140634372
|
0.01952
|
NM_017946.4(FKBP14):c.165C>T (p.Tyr55=)
|
rs17150692
|
0.01889
|
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_000090.4(COL3A1):c.1257C>T (p.Ala419=)
|
rs41272837
|
0.01840
|
NM_001365276.2(TNXB):c.1734C>T (p.Asp578=)
|
rs41270458
|
0.01827
|
NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg)
|
rs61910712
|
0.01812
|
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg)
|
rs77490207
|
0.01795
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=)
|
rs111986360
|
0.01774
|
NM_000089.4(COL1A2):c.82-12A>G
|
rs143689469
|
0.01736
|
NM_001365276.2(TNXB):c.5823C>T (p.Ser1941=)
|
rs116094055
|
0.01719
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_000093.5(COL5A1):c.4955-16C>T
|
rs112712705
|
0.01710
|
NM_000093.5(COL5A1):c.5067+20C>G
|
rs112600748
|
0.01689
|
NM_001365276.2(TNXB):c.517G>A (p.Ala173Thr)
|
rs61746206
|
0.01620
|
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=)
|
rs115790991
|
0.01614
|
NM_001365276.2(TNXB):c.11387-9T>C
|
rs2894233
|
0.01611
|
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro)
|
rs34846477
|
0.01603
|
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=)
|
rs36002196
|
0.01590
|
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)
|
rs78905646
|
0.01586
|
NM_000393.5(COL5A2):c.*1400A>G
|
rs12886
|
0.01556
|
NM_000393.5(COL5A2):c.1006-9C>T
|
rs73978832
|
0.01552
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)
|
rs80302667
|
0.01481
|
NM_000093.5(COL5A1):c.5068-7T>C
|
rs113256540
|
0.01472
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
NM_004370.6(COL12A1):c.834T>G (p.Ala278=)
|
rs16886258
|
0.01455
|
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=)
|
rs34767467
|
0.01428
|
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=)
|
rs77790445
|
0.01425
|
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=)
|
rs116691242
|
0.01422
|
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr)
|
rs57052487
|
0.01385
|
NM_013352.4(DSE):c.1118+15G>A
|
rs116330739
|
0.01381
|
NM_000393.5(COL5A2):c.*1669G>A
|
rs76151083
|
0.01378
|
NM_000393.5(COL5A2):c.*2062G>A
|
rs77821675
|
0.01359
|
NM_000393.5(COL5A2):c.*1904C>T
|
rs75096234
|
0.01358
|
NM_000393.5(COL5A2):c.*423C>T
|
rs77413180
|
0.01358
|
NM_000393.5(COL5A2):c.*1960A>G
|
rs76482660
|
0.01355
|
NM_001365276.2(TNXB):c.3191G>A (p.Arg1064His)
|
rs61995676
|
0.01344
|
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)
|
rs181077813
|
0.01341
|
NM_000088.4(COL1A1):c.298+7C>A
|
rs41317345
|
0.01333
|
NM_001365276.2(TNXB):c.5679G>A (p.Thr1893=)
|
rs115612382
|
0.01326
|
NM_000089.4(COL1A2):c.*205A>G
|
rs6955879
|
0.01322
|
NM_001365276.2(TNXB):c.3419G>A (p.Gly1140Asp)
|
rs149995364
|
0.01305
|
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=)
|
rs58401704
|
0.01305
|
NM_000393.5(COL5A2):c.*1379A>G
|
rs114330868
|
0.01303
|
NM_000093.5(COL5A1):c.2799+4T>C
|
rs75815945
|
0.01279
|
NM_004370.6(COL12A1):c.8650-19T>A
|
rs79461746
|
0.01255
|
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln)
|
rs35741412
|
0.01241
|
NM_000393.5(COL5A2):c.*515C>T
|
rs113311693
|
0.01221
|
NM_000393.5(COL5A2):c.*46C>A
|
rs112739705
|
0.01217
|
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=)
|
rs116696830
|
0.01217
|
NM_000093.5(COL5A1):c.925-44C>T
|
rs41302966
|
0.01210
|
NM_000393.5(COL5A2):c.403-16T>A
|
rs117085226
|
0.01199
|
NM_000393.5(COL5A2):c.98-12T>G
|
rs117917418
|
0.01199
|
NM_007255.3(B4GALT7):c.413+12C>G
|
rs77537553
|
0.01194
|
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)
|
rs61729481
|
0.01170
|
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu)
|
rs77094372
|
0.01163
|
NM_007255.3(B4GALT7):c.297G>T (p.Val99=)
|
rs114036939
|
0.01155
|
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=)
|
rs74384633
|
0.01153
|
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp)
|
rs79155191
|
0.01148
|
NM_018699.4(PRDM5):c.491A>T (p.Lys164Ile)
|
rs146268537
|
0.01143
|
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=)
|
rs34619869
|
0.01132
|
NM_001367624.2(ZNF469):c.7764G>A (p.Pro2588=)
|
rs117149938
|
0.01130
|
NM_000090.4(COL3A1):c.3525+19del
|
rs138061246
|
0.01120
|
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser)
|
rs113484918
|
0.01110
|
NM_001365276.2(TNXB):c.9672G>A (p.Leu3224=)
|
rs61740331
|
0.01104
|
NM_001365276.2(TNXB):c.4848G>A (p.Gly1616=)
|
rs190967484
|
0.01043
|
NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=)
|
rs61744966
|
0.01027
|
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr)
|
rs28361051
|
0.01025
|
NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=)
|
rs34437036
|
0.01013
|
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)
|
rs115570272
|
0.01007
|
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=)
|
rs117310292
|
0.00992
|
NM_014244.5(ADAMTS2):c.*1819G>A
|
rs115989271
|
0.00991
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)
|
rs141776185
|
0.00951
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)
|
rs140480823
|
0.00931
|
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=)
|
rs76754323
|
0.00928
|
NM_014244.5(ADAMTS2):c.*1247C>T
|
rs77506744
|
0.00924
|
NM_000093.5(COL5A1):c.4699-6C>T
|
rs113090154
|
0.00923
|
NM_000090.4(COL3A1):c.80-16C>T
|
rs28763875
|
0.00914
|
NM_000089.3(COL1A2):c.-287C>T
|
rs190926256
|
0.00907
|
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg)
|
rs35372714
|
0.00904
|
NM_014244.5(ADAMTS2):c.*2301C>T
|
rs115104288
|
0.00902
|
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=)
|
rs141666432
|
0.00893
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=)
|
rs147859144
|
0.00882
|
NM_000393.5(COL5A2):c.2661+20G>A
|
rs79623676
|
0.00876
|
NM_001365276.2(TNXB):c.9849G>A (p.Thr3283=)
|
rs147118175
|
0.00874
|
NM_001365276.2(TNXB):c.8601C>T (p.Pro2867=)
|
rs61740712
|
0.00867
|
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)
|
rs34369939
|
0.00867
|
NM_000093.5(COL5A1):c.-110A>G
|
rs180741151
|
0.00852
|
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile)
|
rs6910390
|
0.00842
|
NM_000090.4(COL3A1):c.*34T>G
|
rs191843385
|
0.00838
|
NM_000302.4(PLOD1):c.77-3370G>A
|
rs112799470
|
0.00836
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_018699.4(PRDM5):c.1273A>G (p.Ile425Val)
|
rs75893420
|
0.00830
|
NM_000093.5(COL5A1):c.5136+152C>T
|
rs113504942
|
0.00827
|
NM_001367624.2(ZNF469):c.10034G>A (p.Arg3345His)
|
rs79339739
|
0.00810
|
NM_000393.5(COL5A2):c.-34C>T
|
rs114102476
|
0.00807
|
NM_000088.4(COL1A1):c.*1165C>G
|
rs149419718
|
0.00794
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00788
|
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_004370.6(COL12A1):c.5508G>A (p.Thr1836=)
|
rs77425231
|
0.00776
|
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile)
|
rs117038107
|
0.00776
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)
|
rs75288466
|
0.00769
|
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=)
|
rs61731454
|
0.00766
|
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val)
|
rs116532825
|
0.00765
|
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=)
|
rs73806887
|
0.00764
|
NM_000302.4(PLOD1):c.302+15G>A
|
rs140227667
|
0.00760
|
NM_014244.5(ADAMTS2):c.*445G>A
|
rs73806886
|
0.00754
|
NM_014244.5(ADAMTS2):c.*534G>A
|
rs73806885
|
0.00754
|
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu)
|
rs115487796
|
0.00752
|
NM_014244.5(ADAMTS2):c.*1719T>C
|
rs56153390
|
0.00751
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_000393.5(COL5A2):c.370-16C>T
|
rs148220961
|
0.00748
|
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=)
|
rs137930753
|
0.00731
|
NM_004370.6(COL12A1):c.6210+13C>T
|
rs139520272
|
0.00723
|
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val)
|
rs79330641
|
0.00719
|
NM_000090.4(COL3A1):c.583-8C>T
|
rs10166835
|
0.00713
|
NM_000090.4(COL3A1):c.*88C>T
|
rs11162
|
0.00708
|
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro)
|
rs565885690
|
0.00707
|
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro)
|
rs150488251
|
0.00706
|
NM_000093.5(COL5A1):c.787-15G>A
|
rs150200872
|
0.00704
|
NM_000393.5(COL5A2):c.2554-14A>G
|
rs142429770
|
0.00703
|
NM_001365276.2(TNXB):c.10554C>T (p.Tyr3518=)
|
rs115065067
|
0.00690
|
NM_000393.5(COL5A2):c.*476T>C
|
rs138670180
|
0.00689
|
NM_000393.5(COL5A2):c.249C>T (p.Ala83=)
|
rs142388534
|
0.00687
|
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=)
|
rs61737941
|
0.00682
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=)
|
rs62001059
|
0.00679
|
NM_000093.5(COL5A1):c.5136+40A>G
|
rs183298179
|
0.00678
|
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_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_000090.4(COL3A1):c.1816-19T>C
|
rs114299724
|
0.00647
|
NM_000093.5(COL5A1):c.*283G>A
|
rs114171895
|
0.00635
|
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_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr)
|
rs117555121
|
0.00632
|
NM_000090.4(COL3A1):c.*592T>A
|
rs115345151
|
0.00630
|
NM_000302.4(PLOD1):c.975+13C>T
|
rs79345327
|
0.00627
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_000089.4(COL1A2):c.1036-12A>G
|
rs41316929
|
0.00613
|
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)
|
rs41263773
|
0.00608
|
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)
|
rs199897247
|
0.00605
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_000088.4(COL1A1):c.*1175T>G
|
rs75713851
|
0.00595
|
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile)
|
rs17207902
|
0.00594
|
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=)
|
rs112581362
|
0.00587
|
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)
|
rs184583062
|
0.00587
|
NM_000093.5(COL5A1):c.*14C>T
|
rs12553247
|
0.00580
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_000393.5(COL5A2):c.*798A>G
|
rs116775405
|
0.00567
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
NM_014244.5(ADAMTS2):c.1629+9G>A
|
rs115550684
|
0.00560
|
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln)
|
rs118086587
|
0.00554
|
NM_013352.4(DSE):c.114C>T (p.Ala38=)
|
rs36061922
|
0.00553
|
NM_000093.5(COL5A1):c.4231-12G>A
|
rs188473199
|
0.00543
|
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)
|
rs77951481
|
0.00528
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_000088.4(COL1A1):c.*1233G>A
|
rs73987442
|
0.00516
|
NM_000093.5(COL5A1):c.4393-17C>T
|
rs141152269
|
0.00515
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
NM_000093.5(COL5A1):c.5137-11T>C
|
rs183495554
|
0.00512
|
NM_000093.5(COL5A1):c.-37G>A
|
rs374979485
|
0.00508
|
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=)
|
rs35170847
|
0.00506
|
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)
|
rs35292916
|
0.00501
|
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=)
|
rs80102965
|
0.00499
|
NM_000302.4(PLOD1):c.76+17C>T
|
rs113691754
|
0.00498
|
NM_000090.4(COL3A1):c.4059= (p.His1353=)
|
rs1516446
|
0.00491
|
NM_000093.5(COL5A1):c.5137-12C>T
|
rs191758714
|
0.00488
|
NM_000393.5(COL5A2):c.*391A>G
|
rs143552248
|
0.00486
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
NM_013352.4(DSE):c.711G>C (p.Leu237=)
|
rs140034597
|
0.00484
|
NM_000393.5(COL5A2):c.2769+19A>T
|
rs111609220
|
0.00481
|
NM_000093.5(COL5A1):c.4955-48G>A
|
rs60879388
|
0.00480
|
NM_000393.5(COL5A2):c.*1852T>C
|
rs116255986
|
0.00479
|
NM_000393.5(COL5A2):c.2716-4C>T
|
rs111644889
|
0.00479
|
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)
|
rs145178398
|
0.00473
|
NM_000302.4(PLOD1):c.*614G>T
|
rs15431
|
0.00472
|
NM_000090.4(COL3A1):c.-80G>A
|
rs41265575
|
0.00470
|
NM_001367624.2(ZNF469):c.10855G>A (p.Val3619Met)
|
rs111494864
|
0.00468
|
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His)
|
rs78446958
|
0.00467
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_000093.5(COL5A1):c.-382C>G
|
rs555826102
|
0.00465
|
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His)
|
rs150598363
|
0.00461
|
NM_014244.5(ADAMTS2):c.1695C>T (p.Gly565=)
|
rs116708837
|
0.00461
|
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile)
|
rs142820961
|
0.00455
|
NM_000089.4(COL1A2):c.*283T>C
|
rs114837909
|
0.00448
|
NM_000090.4(COL3A1):c.2022+5T>C
|
rs41263765
|
0.00448
|
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)
|
rs41263751
|
0.00443
|
NM_000093.5(COL5A1):c.2799+13C>A
|
rs75668257
|
0.00443
|
NM_000088.4(COL1A1):c.750+12G>T
|
rs79480112
|
0.00434
|
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)
|
rs35759441
|
0.00430
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)
|
rs61757478
|
0.00427
|
NM_001367624.2(ZNF469):c.327G>A (p.Ala109=)
|
rs192479136
|
0.00424
|
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=)
|
rs34830422
|
0.00420
|
NM_001365276.2(TNXB):c.6348C>T (p.Thr2116=)
|
rs143840297
|
0.00419
|
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala)
|
rs77654847
|
0.00419
|
NM_000393.5(COL5A2):c.*525A>G
|
rs10195176
|
0.00418
|
NM_001365276.2(TNXB):c.1837A>G (p.Ser613Gly)
|
rs61744970
|
0.00418
|
NM_001365276.2(TNXB):c.6683T>A (p.Phe2228Tyr)
|
rs3749960
|
0.00418
|
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser)
|
rs199760004
|
0.00417
|
NM_000089.4(COL1A2):c.2349+16G>C
|
rs112603291
|
0.00405
|
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=)
|
rs34691365
|
0.00404
|
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)
|
rs146789160
|
0.00403
|
NM_001365276.2(TNXB):c.2367G>A (p.Gly789=)
|
rs117182156
|
0.00399
|
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)
|
rs61729495
|
0.00394
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_000393.5(COL5A2):c.*1076G>A
|
rs114123906
|
0.00382
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg)
|
rs114755302
|
0.00371
|
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala)
|
rs74354225
|
0.00370
|
NM_000089.4(COL1A2):c.*415T>G
|
rs148913603
|
0.00367
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_000093.5(COL5A1):c.1333-8A>G
|
rs145620416
|
0.00360
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=)
|
rs34038163
|
0.00352
|
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=)
|
rs140319205
|
0.00348
|
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=)
|
rs113549828
|
0.00347
|
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)
|
rs2229817
|
0.00346
|
NM_000089.4(COL1A2):c.975A>T (p.Gly325=)
|
rs148063325
|
0.00340
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_001367624.2(ZNF469):c.10472C>G (p.Pro3491Arg)
|
rs183437633
|
0.00340
|
NM_000089.4(COL1A2):c.1036-14G>A
|
rs114322680
|
0.00338
|
NM_001365276.2(TNXB):c.11417A>G (p.Gln3806Arg)
|
rs2395085
|
0.00337
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_001365276.2(TNXB):c.3445+8A>G
|
rs201624002
|
0.00326
|
NM_014244.5(ADAMTS2):c.2751-4G>A
|
rs112155474
|
0.00324
|
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val)
|
rs146120469
|
0.00321
|
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)
|
rs572299080
|
0.00320
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00312
|
NM_000089.4(COL1A2):c.122G>A (p.Arg41His)
|
rs139528613
|
0.00310
|
NM_017946.4(FKBP14):c.34C>G (p.Leu12Val)
|
rs112905680
|
0.00310
|
NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu)
|
rs140770834
|
0.00309
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_001365276.2(TNXB):c.10060C>T (p.Pro3354Ser)
|
rs140530599
|
0.00296
|
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_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)
|
rs143443499
|
0.00283
|
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=)
|
rs186035636
|
0.00283
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp)
|
rs199519673
|
0.00279
|
NM_001367624.2(ZNF469):c.7935G>A (p.Glu2645=)
|
rs189596398
|
0.00279
|
NM_001365276.2(TNXB):c.6544+8T>A
|
rs150379644
|
0.00278
|
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=)
|
rs115511838
|
0.00278
|
NM_004370.6(COL12A1):c.6068-14T>A
|
rs189714891
|
0.00278
|
NM_013352.4(DSE):c.209G>A (p.Arg70His)
|
rs147683614
|
0.00278
|
NM_001367624.2(ZNF469):c.9161A>C (p.Glu3054Ala)
|
rs139565761
|
0.00277
|
NM_017946.4(FKBP14):c.349+16T>G
|
rs112323392
|
0.00272
|
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu)
|
rs35978122
|
0.00270
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_000088.4(COL1A1):c.*1088G>A
|
rs191326459
|
0.00264
|
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg)
|
rs139332405
|
0.00262
|
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn)
|
rs148065232
|
0.00261
|
NM_000090.4(COL3A1):c.3039+16T>G
|
rs41264443
|
0.00259
|
NM_000302.4(PLOD1):c.1902+13G>A
|
rs199765551
|
0.00259
|
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)
|
rs117501524
|
0.00258
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_007255.3(B4GALT7):c.414-20G>A
|
rs138092105
|
0.00252
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
NM_001367624.2(ZNF469):c.8694C>T (p.Gly2898=)
|
rs114884145
|
0.00244
|
NM_001365276.2(TNXB):c.7704T>C (p.Val2568=)
|
rs370919547
|
0.00243
|
NM_004370.6(COL12A1):c.4691-12G>A
|
rs146472530
|
0.00243
|
NM_000089.4(COL1A2):c.595-20C>T
|
rs192022673
|
0.00242
|
NM_000089.4(COL1A2):c.96+10C>T
|
rs185341110
|
0.00242
|
NM_014244.5(ADAMTS2):c.2958+20C>T
|
rs200469634
|
0.00242
|
NM_000093.5(COL5A1):c.110-19T>C
|
rs148294644
|
0.00239
|
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=)
|
rs141688356
|
0.00235
|
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln)
|
rs181887079
|
0.00232
|
NM_000088.4(COL1A1):c.-57G>A
|
rs2734278
|
0.00229
|
NM_001367624.2(ZNF469):c.6036G>A (p.Thr2012=)
|
rs149961653
|
0.00229
|
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser)
|
rs141517088
|
0.00224
|
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg)
|
rs532857190
|
0.00223
|
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys)
|
rs117995699
|
0.00222
|
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=)
|
rs78870279
|
0.00221
|
NM_000088.4(COL1A1):c.*548C>A
|
rs557681960
|
0.00220
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_001365276.2(TNXB):c.909C>G (p.Gly303=)
|
rs111244635
|
0.00214
|
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met)
|
rs202188220
|
0.00214
|
NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=)
|
rs34986695
|
0.00211
|
NM_017946.4(FKBP14):c.495G>A (p.Lys165=)
|
rs142474407
|
0.00211
|
NM_001367624.2(ZNF469):c.11568C>T (p.Arg3856=)
|
rs367547260
|
0.00208
|
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)
|
rs558108271
|
0.00208
|
NM_000093.5(COL5A1):c.*58C>T
|
rs56259444
|
0.00207
|
NM_001365276.2(TNXB):c.8598C>T (p.Val2866=)
|
rs141752970
|
0.00202
|
NM_001365276.2(TNXB):c.5937C>T (p.Thr1979=)
|
rs3749963
|
0.00200
|
NM_001365276.2(TNXB):c.9438G>A (p.Thr3146=)
|
rs202162469
|
0.00200
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)
|
rs145281966
|
0.00199
|
NM_001365276.2(TNXB):c.6513C>T (p.Arg2171=)
|
rs117336748
|
0.00198
|
NM_001365276.2(TNXB):c.8594T>C (p.Met2865Thr)
|
rs373158501
|
0.00198
|
NM_001365276.2(TNXB):c.9643G>A (p.Glu3215Lys)
|
rs2075563
|
0.00198
|
NM_001365276.2(TNXB):c.4885G>A (p.Glu1629Lys)
|
rs78493656
|
0.00197
|
NM_130468.4(CHST14):c.288G>A (p.Arg96=)
|
rs371684007
|
0.00195
|
NM_000090.4(COL3A1):c.*828G>T
|
rs372150712
|
0.00194
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
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_000393.5(COL5A2):c.-50C>T
|
rs183260194
|
0.00192
|
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=)
|
rs368507303
|
0.00190
|
NM_000090.4(COL3A1):c.*674G>A
|
rs190903102
|
0.00185
|
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=)
|
rs147438064
|
0.00184
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_000089.4(COL1A2):c.*605A>G
|
rs537557756
|
0.00181
|
NM_000088.4(COL1A1):c.3531+10C>A
|
rs41316721
|
0.00179
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_014244.5(ADAMTS2):c.689-18G>A
|
rs202114393
|
0.00177
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)
|
rs149964491
|
0.00176
|
NM_000093.5(COL5A1):c.277+6T>G
|
rs201910803
|
0.00174
|
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=)
|
rs146146364
|
0.00173
|
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=)
|
rs190501064
|
0.00173
|
NM_017946.4(FKBP14):c.330C>T (p.Gly110=)
|
rs148034796
|
0.00173
|
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=)
|
rs74949176
|
0.00170
|
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln)
|
rs73428220
|
0.00167
|
NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg)
|
rs201638755
|
0.00166
|
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)
|
rs540655479
|
0.00166
|
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)
|
rs140818646
|
0.00166
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
NM_013352.4(DSE):c.216G>A (p.Thr72=)
|
rs61747210
|
0.00164
|
NM_000093.5(COL5A1):c.-199C>T
|
rs183791719
|
0.00162
|
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
|
rs116003670
|
0.00162
|
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)
|
rs34147460
|
0.00159
|
NM_000093.5(COL5A1):c.3259-8C>T
|
rs146461106
|
0.00159
|
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)
|
rs2271683
|
0.00158
|
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)
|
rs149200506
|
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_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_000088.4(COL1A1):c.*378C>G
|
rs148131473
|
0.00150
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
NM_017946.4(FKBP14):c.375G>C (p.Leu125=)
|
rs143268242
|
0.00148
|
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)
|
rs41263775
|
0.00146
|
NM_001367624.2(ZNF469):c.3504C>T (p.Ser1168=)
|
rs533300920
|
0.00145
|
NM_000089.4(COL1A2):c.1350+11A>T
|
rs193922160
|
0.00140
|
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=)
|
rs142951817
|
0.00140
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_014244.5(ADAMTS2):c.1512G>A (p.Thr504=)
|
rs141369064
|
0.00135
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
NM_000393.5(COL5A2):c.33C>T (p.Leu11=)
|
rs140108893
|
0.00130
|
NM_000093.5(COL5A1):c.1539C>T (p.Pro513=)
|
rs151173863
|
0.00129
|
NM_000393.5(COL5A2):c.3039+15C>T
|
rs114619770
|
0.00125
|
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=)
|
rs201166370
|
0.00124
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00124
|
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)
|
rs139726213
|
0.00120
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp)
|
rs146789395
|
0.00119
|
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_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
0.00115
|
NM_000089.4(COL1A2):c.582T>G (p.Ala194=)
|
rs144540908
|
0.00113
|
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val)
|
rs139653501
|
0.00113
|
NM_000093.5(COL5A1):c.3204+3G>A
|
rs202054108
|
0.00112
|
NM_130468.4(CHST14):c.210C>T (p.Pro70=)
|
rs191997027
|
0.00111
|
NM_000393.5(COL5A2):c.*436A>G
|
rs149313073
|
0.00110
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met)
|
rs2271211
|
0.00108
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000093.5(COL5A1):c.924+13C>T
|
rs199836060
|
0.00106
|
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=)
|
rs191234581
|
0.00106
|
NM_130468.4(CHST14):c.807T>C (p.Asp269=)
|
rs139229738
|
0.00104
|
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=)
|
rs376379111
|
0.00103
|
NM_004370.6(COL12A1):c.7355-9A>G
|
rs145346828
|
0.00103
|
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=)
|
rs371949188
|
0.00103
|
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=)
|
rs144797464
|
0.00103
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
NM_000088.4(COL1A1):c.2613+14G>A
|
rs41316685
|
0.00101
|
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=)
|
rs78215347
|
0.00101
|
NM_004370.6(COL12A1):c.8179-10A>G
|
rs142509363
|
0.00101
|
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=)
|
rs145109914
|
0.00097
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_000090.4(COL3A1):c.1051-13G>A
|
rs371934572
|
0.00093
|
NM_014244.5(ADAMTS2):c.689-19C>T
|
rs201779376
|
0.00093
|
NM_000302.4(PLOD1):c.2028+8G>T
|
rs181951731
|
0.00092
|
NM_000093.5(COL5A1):c.*1343A>G
|
rs77145856
|
0.00088
|
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)
|
rs147266928
|
0.00087
|
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val)
|
rs139788610
|
0.00087
|
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=)
|
rs148590409
|
0.00087
|
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)
|
rs149215818
|
0.00087
|
NM_000093.5(COL5A1):c.3528+14C>T
|
rs371865645
|
0.00086
|
NM_004370.6(COL12A1):c.8753-19G>A
|
rs185465645
|
0.00086
|
NM_000093.5(COL5A1):c.*187C>T
|
rs565085023
|
0.00085
|
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)
|
rs368772806
|
0.00085
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)
|
rs149212775
|
0.00083
|
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
|
rs35860166
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)
|
rs551591362
|
0.00080
|
NM_007255.3(B4GALT7):c.51-14C>T
|
rs202024448
|
0.00079
|
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)
|
rs75542756
|
0.00076
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_007255.3(B4GALT7):c.723+20G>A
|
rs199543624
|
0.00074
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000093.5(COL5A1):c.*865T>A
|
rs910306671
|
0.00073
|
NM_000302.4(PLOD1):c.976-16C>T
|
rs142329815
|
0.00073
|
NM_000393.5(COL5A2):c.2931+11C>T
|
rs184002749
|
0.00073
|
NM_000089.4(COL1A2):c.1971+18T>C
|
rs41317174
|
0.00072
|
NM_000089.4(COL1A2):c.1405-16A>G
|
rs73428205
|
0.00071
|
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=)
|
rs143858735
|
0.00071
|
NM_004370.6(COL12A1):c.2711-15T>C
|
rs74331327
|
0.00071
|
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=)
|
rs200230227
|
0.00071
|
NM_004370.6(COL12A1):c.997+14G>A
|
rs201998466
|
0.00071
|
NM_000393.5(COL5A2):c.3364-17C>T
|
rs201720941
|
0.00070
|
NM_004370.6(COL12A1):c.8941+18C>T
|
rs368092763
|
0.00070
|
NM_000090.3(COL3A1):c.-118T>G
|
rs549951495
|
0.00069
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
NM_000089.4(COL1A2):c.3585T>C (p.Cys1195=)
|
rs1800253
|
0.00067
|
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln)
|
rs34438461
|
0.00067
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000093.5(COL5A1):c.252C>T (p.Ser84=)
|
rs151293601
|
0.00066
|
NM_000393.5(COL5A2):c.186T>C (p.Cys62=)
|
rs142832916
|
0.00066
|
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00066
|
NM_000093.5(COL5A1):c.3115-14G>A
|
rs368945793
|
0.00065
|
NM_004370.6(COL12A1):c.190+14C>G
|
rs536848485
|
0.00065
|
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val)
|
rs76704342
|
0.00063
|
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)
|
rs61737719
|
0.00062
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_000393.5(COL5A2):c.2770-5A>G
|
rs370313198
|
0.00060
|
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln)
|
rs184878358
|
0.00060
|
NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val)
|
rs117187367
|
0.00060
|
NM_000090.4(COL3A1):c.3202-14del
|
rs767971610
|
0.00059
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=)
|
rs143318792
|
0.00058
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_000093.5(COL5A1):c.2700+16C>T
|
rs371771646
|
0.00056
|
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=)
|
rs148737409
|
0.00054
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)
|
rs141593495
|
0.00054
|
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=)
|
rs149790711
|
0.00053
|
NM_014244.5(ADAMTS2):c.*288G>A
|
rs59090242
|
0.00053
|
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)
|
rs273585636
|
0.00052
|
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)
|
rs34781844
|
0.00050
|
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=)
|
rs373668725
|
0.00050
|
NM_001365276.2(TNXB):c.6608G>A (p.Arg2203Lys)
|
rs150876029
|
0.00049
|
NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met)
|
rs539550777
|
0.00049
|
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)
|
rs370388701
|
0.00048
|
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln)
|
rs117222015
|
0.00048
|
NM_000093.5(COL5A1):c.3906+20G>A
|
rs148053413
|
0.00047
|
NM_000393.5(COL5A2):c.798+10C>T
|
rs368165817
|
0.00047
|
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)
|
rs147044263
|
0.00047
|
NM_000393.5(COL5A2):c.1456-20T>C
|
rs150724439
|
0.00046
|
NM_017946.4(FKBP14):c.123G>A (p.Lys41=)
|
rs149485427
|
0.00046
|
NM_130468.4(CHST14):c.635T>C (p.Val212Ala)
|
rs144629123
|
0.00046
|
NM_000393.5(COL5A2):c.322+18C>G
|
rs201708256
|
0.00045
|
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)
|
rs200520924
|
0.00045
|
NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=)
|
rs149391669
|
0.00045
|
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln)
|
rs376811907
|
0.00045
|
NM_000088.4(COL1A1):c.3424-6C>A
|
rs370865189
|
0.00044
|
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)
|
rs200319017
|
0.00044
|
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=)
|
rs145608939
|
0.00042
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
NM_000093.5(COL5A1):c.2089-9C>T
|
rs181246690
|
0.00041
|
NM_000093.5(COL5A1):c.924+14G>A
|
rs200595318
|
0.00041
|
NM_000093.5(COL5A1):c.126C>T (p.Leu42=)
|
rs149369116
|
0.00040
|
NM_014244.5(ADAMTS2):c.2085+11A>G
|
rs139255728
|
0.00040
|
NM_000088.4(COL1A1):c.462C>T (p.Gly154=)
|
rs41317351
|
0.00038
|
NM_000093.5(COL5A1):c.1281G>A (p.Pro427=)
|
rs147292897
|
0.00038
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
NM_000302.4(PLOD1):c.1756-13C>T
|
rs370882934
|
0.00038
|
NM_000393.5(COL5A2):c.3310-17T>A
|
rs201791446
|
0.00038
|
NM_000393.5(COL5A2):c.745-13G>A
|
rs145442880
|
0.00038
|
NM_018699.4(PRDM5):c.743+14G>A
|
rs185567213
|
0.00038
|
NM_000093.5(COL5A1):c.*424A>G
|
rs574355137
|
0.00037
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
NM_000093.5(COL5A1):c.*479G>A
|
rs184272423
|
0.00034
|
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)
|
rs149959668
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=)
|
rs202153313
|
0.00034
|
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)
|
rs184585202
|
0.00034
|
NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn)
|
rs201567848
|
0.00034
|
NM_004370.6(COL12A1):c.8320-19T>C
|
rs369006332
|
0.00034
|
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
|
rs140609193
|
0.00033
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000093.5(COL5A1):c.5370+11C>T
|
rs764644830
|
0.00032
|
NM_000393.5(COL5A2):c.*446G>A
|
rs570467727
|
0.00032
|
NM_000088.4(COL1A1):c.1002+10G>T
|
rs368316440
|
0.00031
|
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)
|
rs1800214
|
0.00031
|
NM_000093.5(COL5A1):c.3006+17C>T
|
rs140528268
|
0.00031
|
NM_000393.5(COL5A2):c.2230-16T>A
|
rs375334470
|
0.00031
|
NM_000088.4(COL1A1):c.1768-8C>T
|
rs193922142
|
0.00030
|
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)
|
rs141661592
|
0.00030
|
NM_000088.4(COL1A1):c.1983+9G>C
|
rs201091992
|
0.00029
|
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)
|
rs184402915
|
0.00029
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_000088.4(COL1A1):c.*836C>T
|
rs527358320
|
0.00028
|
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=)
|
rs41317725
|
0.00028
|
NM_000093.5(COL5A1):c.2331+16G>A
|
rs199654385
|
0.00028
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_007255.3(B4GALT7):c.723+19C>T
|
rs374080326
|
0.00028
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=)
|
rs190820180
|
0.00027
|
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met)
|
rs369072636
|
0.00026
|
NM_001367624.2(ZNF469):c.11137C>T (p.Arg3713Cys)
|
rs748126365
|
0.00026
|
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)
|
rs273585623
|
0.00026
|
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)
|
rs115246424
|
0.00026
|
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=)
|
rs368321891
|
0.00026
|
NM_014244.5(ADAMTS2):c.1383-16C>T
|
rs377462612
|
0.00026
|
NM_014244.5(ADAMTS2):c.770C>A (p.Ala257Glu)
|
rs370679548
|
0.00026
|
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)
|
rs150670521
|
0.00025
|
NM_000093.5(COL5A1):c.5371-17G>A
|
rs376639668
|
0.00025
|
NM_000089.4(COL1A2):c.892-13C>G
|
rs200532328
|
0.00024
|
NM_000090.4(COL3A1):c.*622T>C
|
rs572369155
|
0.00024
|
NM_000093.5(COL5A1):c.4393-19C>T
|
rs186732287
|
0.00024
|
NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg)
|
rs373739940
|
0.00024
|
NM_004370.6(COL12A1):c.6068-17G>T
|
rs200347973
|
0.00024
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_000093.5(COL5A1):c.*145G>A
|
rs181323324
|
0.00023
|
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)
|
rs375673671
|
0.00023
|
NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val)
|
rs138068984
|
0.00022
|
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=)
|
rs74811638
|
0.00022
|
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)
|
rs1800211
|
0.00021
|
NM_000089.4(COL1A2):c.981C>T (p.Arg327=)
|
rs141762645
|
0.00021
|
NM_000090.4(COL3A1):c.1977+9C>T
|
rs184223621
|
0.00021
|
NM_000090.4(COL3A1):c.799-11A>T
|
rs200148262
|
0.00021
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
NM_000093.5(COL5A1):c.1774-7C>A
|
rs371941850
|
0.00021
|
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=)
|
rs375631252
|
0.00021
|
NM_000088.4(COL1A1):c.957+10C>A
|
rs376179885
|
0.00020
|
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys)
|
rs777778007
|
0.00020
|
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=)
|
rs149301001
|
0.00019
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
NM_000088.4(COL1A1):c.299-15C>T
|
rs199523510
|
0.00019
|
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=)
|
rs765470622
|
0.00019
|
NM_000093.5(COL5A1):c.2844+20G>A
|
rs200916696
|
0.00019
|
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser)
|
rs61737942
|
0.00019
|
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)
|
rs375124784
|
0.00019
|
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)
|
rs367685759
|
0.00019
|
NM_017946.4(FKBP14):c.349+15G>A
|
rs201366617
|
0.00019
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
NM_000093.5(COL5A1):c.2799+11G>A
|
rs377322092
|
0.00018
|
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=)
|
rs148229627
|
0.00018
|
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro)
|
rs34395097
|
0.00018
|
NM_000088.4(COL1A1):c.3815-12G>T
|
rs201066018
|
0.00017
|
NM_000089.4(COL1A2):c.1353T>A (p.Gly451=)
|
rs545459178
|
0.00017
|
NM_000093.5(COL5A1):c.279G>A (p.Ala93=)
|
rs145090868
|
0.00017
|
NM_000093.5(COL5A1):c.803G>T (p.Gly268Val)
|
rs145552797
|
0.00017
|
NM_004370.6(COL12A1):c.7354+10T>A
|
rs199945254
|
0.00017
|
NM_000088.4(COL1A1):c.*202A>G
|
rs564917505
|
0.00016
|
NM_000088.4(COL1A1):c.1615-14C>T
|
rs190098788
|
0.00016
|
NM_000089.4(COL1A2):c.*195C>T
|
rs190115417
|
0.00016
|
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)
|
rs189374343
|
0.00016
|
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr)
|
rs370143255
|
0.00016
|
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)
|
rs368551709
|
0.00016
|
NM_000093.5(COL5A1):c.5370+14G>A
|
rs201082330
|
0.00016
|
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met)
|
rs200443479
|
0.00016
|
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=)
|
rs139249329
|
0.00016
|
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)
|
rs376144196
|
0.00015
|
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys)
|
rs768052470
|
0.00015
|
NM_004370.6(COL12A1):c.66G>A (p.Glu22=)
|
rs369544130
|
0.00015
|
NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)
|
rs200901687
|
0.00015
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
NM_000089.4(COL1A2):c.226-6C>A
|
rs199616511
|
0.00014
|
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=)
|
rs369434464
|
0.00014
|
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)
|
rs201880122
|
0.00014
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
NM_000093.5(COL5A1):c.3114+12G>C
|
rs528913410
|
0.00014
|
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=)
|
rs371821655
|
0.00014
|
NM_000093.5(COL5A1):c.3906+19C>T
|
rs571788196
|
0.00014
|
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=)
|
rs200073020
|
0.00014
|
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=)
|
rs763068575
|
0.00014
|
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)
|
rs201136122
|
0.00013
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)
|
rs748345448
|
0.00013
|
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile)
|
rs145757313
|
0.00013
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=)
|
rs180961776
|
0.00013
|
NM_000089.4(COL1A2):c.2566-6A>G
|
rs141088934
|
0.00012
|
NM_000093.5(COL5A1):c.*1287C>T
|
rs189437752
|
0.00012
|
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=)
|
rs201871481
|
0.00012
|
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys)
|
rs75648697
|
0.00012
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)
|
rs374065372
|
0.00011
|
NM_000088.4(COL1A1):c.2613+13C>T
|
rs368380161
|
0.00011
|
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu)
|
rs150543864
|
0.00011
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln)
|
rs200590188
|
0.00011
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=)
|
rs199630108
|
0.00011
|
NM_000093.5(COL5A1):c.3528+19G>T
|
rs200672136
|
0.00011
|
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=)
|
rs146176718
|
0.00011
|
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=)
|
rs747549921
|
0.00011
|
NM_000393.5(COL5A2):c.*561T>C
|
rs564981830
|
0.00011
|
NM_000393.5(COL5A2):c.1977+12T>G
|
rs202204374
|
0.00011
|
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)
|
rs150556863
|
0.00011
|
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=)
|
rs28763933
|
0.00011
|
NM_014244.5(ADAMTS2):c.789C>T (p.Asp263=)
|
rs144235544
|
0.00011
|
NM_000089.4(COL1A2):c.2274C>T (p.Pro758=)
|
rs541912705
|
0.00010
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr)
|
rs370499963
|
0.00010
|
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu)
|
rs530442560
|
0.00010
|
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu)
|
rs149912828
|
0.00010
|
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser)
|
rs376920171
|
0.00010
|
NM_000093.5(COL5A1):c.2386-7C>T
|
rs746845504
|
0.00010
|
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=)
|
rs368782334
|
0.00010
|
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)
|
rs148006741
|
0.00010
|
NM_004370.6(COL12A1):c.732G>A (p.Val244=)
|
rs200141559
|
0.00010
|
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)
|
rs147259971
|
0.00010
|
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=)
|
rs755099137
|
0.00010
|
NM_000093.5(COL5A1):c.*608G>A
|
rs537858864
|
0.00009
|
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu)
|
rs770793962
|
0.00009
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)
|
rs763246328
|
0.00009
|
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met)
|
rs777376620
|
0.00009
|
NM_000093.5(COL5A1):c.1935+12C>T
|
rs368245632
|
0.00009
|
NM_000093.5(COL5A1):c.2134-11G>C
|
rs369317619
|
0.00009
|
NM_000093.5(COL5A1):c.2331+15C>T
|
rs369093559
|
0.00009
|
NM_000093.5(COL5A1):c.3691-9T>C
|
rs187584029
|
0.00009
|
NM_000093.5(COL5A1):c.3744+19C>T
|
rs200498760
|
0.00009
|
NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg)
|
rs201801000
|
0.00009
|
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)
|
rs761837954
|
0.00009
|
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys)
|
rs138396959
|
0.00009
|
NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln)
|
rs560106611
|
0.00009
|
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=)
|
rs367657505
|
0.00009
|
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=)
|
rs372869641
|
0.00009
|
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)
|
rs200845884
|
0.00009
|
NM_004370.6(COL12A1):c.8416-14A>G
|
rs202033555
|
0.00009
|
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)
|
rs575285203
|
0.00008
|
NM_000093.5(COL5A1):c.1495-11C>A
|
rs199501759
|
0.00008
|
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys)
|
rs781485753
|
0.00008
|
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met)
|
rs201220311
|
0.00008
|
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met)
|
rs150487609
|
0.00008
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)
|
rs200348547
|
0.00008
|
NM_000093.5(COL5A1):c.684G>A (p.Ser228=)
|
rs139705205
|
0.00008
|
NM_017946.4(FKBP14):c.246G>A (p.Leu82=)
|
rs188844900
|
0.00008
|
NM_000089.4(COL1A2):c.2025+9A>G
|
rs368837694
|
0.00007
|
NM_000093.5(COL5A1):c.-4C>G
|
rs769694875
|
0.00007
|
NM_000093.5(COL5A1):c.1149C>T (p.Thr383=)
|
rs771885855
|
0.00007
|
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=)
|
rs564398230
|
0.00007
|
NM_000093.5(COL5A1):c.4157C>T (p.Ser1386Leu)
|
rs141605663
|
0.00007
|
NM_000093.5(COL5A1):c.4188C>T (p.Gly1396=)
|
rs145363211
|
0.00007
|
NM_000093.5(COL5A1):c.467G>A (p.Arg156Gln)
|
rs770896795
|
0.00007
|
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)
|
rs373448943
|
0.00007
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=)
|
rs147434147
|
0.00007
|
NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg)
|
rs863223467
|
0.00007
|
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser)
|
rs369781295
|
0.00007
|
NM_000093.5(COL5A1):c.934C>G (p.Pro312Ala)
|
rs140105243
|
0.00007
|
NM_001367624.2(ZNF469):c.11244C>T (p.Ser3748=)
|
rs936296523
|
0.00007
|
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)
|
rs143462011
|
0.00007
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln)
|
rs370549168
|
0.00007
|
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)
|
rs150047440
|
0.00007
|
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr)
|
rs150803124
|
0.00006
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=)
|
rs765398195
|
0.00006
|
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=)
|
rs199580542
|
0.00006
|
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=)
|
rs201760437
|
0.00006
|
NM_000089.4(COL1A2):c.671G>A (p.Arg224His)
|
rs771139732
|
0.00006
|
NM_000090.4(COL3A1):c.1150-13T>C
|
rs201839712
|
0.00006
|
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=)
|
rs149093989
|
0.00006
|
NM_000090.4(COL3A1):c.217G>C (p.Asp73His)
|
rs200246388
|
0.00006
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)
|
rs148918486
|
0.00006
|
NM_000090.4(COL3A1):c.898-5T>C
|
rs535434618
|
0.00006
|
NM_000093.5(COL5A1):c.*2090C>T
|
rs578207933
|
0.00006
|
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu)
|
rs375456811
|
0.00006
|
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser)
|
rs140486644
|
0.00006
|
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=)
|
rs139343205
|
0.00006
|
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)
|
rs187022757
|
0.00006
|
NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=)
|
rs767002656
|
0.00006
|
NM_000093.5(COL5A1):c.3906+14C>T
|
rs377136680
|
0.00006
|
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)
|
rs886063676
|
0.00006
|
NM_000093.5(COL5A1):c.4231-9G>A
|
rs570545638
|
0.00006
|
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met)
|
rs764446683
|
0.00006
|
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His)
|
rs777045810
|
0.00006
|
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu)
|
rs144844792
|
0.00006
|
NM_000093.5(COL5A1):c.791C>T (p.Thr264Met)
|
rs148548209
|
0.00006
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
NM_000093.5(COL5A1):c.936G>A (p.Pro312=)
|
rs150364815
|
0.00006
|
NM_000302.4(PLOD1):c.936C>T (p.His312=)
|
rs374787907
|
0.00006
|
NM_000393.5(COL5A2):c.1716+9A>G
|
rs201934598
|
0.00006
|
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu)
|
rs772448543
|
0.00006
|
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)
|
rs377331666
|
0.00006
|
NM_000393.5(COL5A2):c.4114-11T>C
|
rs587780908
|
0.00006
|
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)
|
rs144430633
|
0.00006
|
NM_000393.5(COL5A2):c.567+17G>T
|
rs780672109
|
0.00006
|
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)
|
rs373970388
|
0.00006
|
NM_007255.3(B4GALT7):c.432C>T (p.Leu144=)
|
rs369974140
|
0.00006
|
NM_130468.4(CHST14):c.567G>A (p.Val189=)
|
rs758319940
|
0.00006
|
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu)
|
rs370234887
|
0.00005
|
NM_000093.5(COL5A1):c.*302C>G
|
rs376087882
|
0.00005
|
NM_000093.5(COL5A1):c.*489A>G
|
rs142194317
|
0.00005
|
NM_000093.5(COL5A1):c.1143C>T (p.Ala381=)
|
rs200245996
|
0.00005
|
NM_000093.5(COL5A1):c.1228C>T (p.Arg410Trp)
|
rs745360062
|
0.00005
|
NM_000093.5(COL5A1):c.1971G>A (p.Pro657=)
|
rs981088114
|
0.00005
|
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=)
|
rs377123592
|
0.00005
|
NM_000093.5(COL5A1):c.2593-15T>C
|
rs747677530
|
0.00005
|
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser)
|
rs144985214
|
0.00005
|
NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys)
|
rs1457110544
|
0.00005
|
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)
|
rs759580799
|
0.00005
|
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)
|
rs542783734
|
0.00005
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln)
|
rs863223467
|
0.00005
|
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln)
|
rs761126767
|
0.00005
|
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)
|
rs200703515
|
0.00005
|
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)
|
rs373455368
|
0.00005
|
NM_014244.5(ADAMTS2):c.291C>T (p.Phe97=)
|
rs462009
|
0.00005
|
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)
|
rs371904584
|
0.00004
|
NM_000089.4(COL1A2):c.2400C>T (p.Pro800=)
|
rs139913150
|
0.00004
|
NM_000089.4(COL1A2):c.48C>T (p.Thr16=)
|
rs780687409
|
0.00004
|
NM_000089.4(COL1A2):c.783T>C (p.Pro261=)
|
rs200436925
|
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_000093.5(COL5A1):c.1307C>T (p.Ala436Val)
|
rs144269434
|
0.00004
|
NM_000093.5(COL5A1):c.1346G>A (p.Arg449Gln)
|
rs778297413
|
0.00004
|
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr)
|
rs372168541
|
0.00004
|
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn)
|
rs374204025
|
0.00004
|
NM_000093.5(COL5A1):c.1569+19C>T
|
rs373086315
|
0.00004
|
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)
|
rs369000939
|
0.00004
|
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=)
|
rs772257562
|
0.00004
|
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=)
|
rs367755808
|
0.00004
|
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)
|
rs760539229
|
0.00004
|
NM_000093.5(COL5A1):c.2997C>T (p.Val999=)
|
rs201897490
|
0.00004
|
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser)
|
rs370321707
|
0.00004
|
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=)
|
rs201335857
|
0.00004
|
NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu)
|
rs369971694
|
0.00004
|
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)
|
rs537768945
|
0.00004
|
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)
|
rs148687561
|
0.00004
|
NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln)
|
rs369501428
|
0.00004
|
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=)
|
rs199637893
|
0.00004
|
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn)
|
rs771354369
|
0.00004
|
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)
|
rs1005244744
|
0.00004
|
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu)
|
rs770737485
|
0.00004
|
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile)
|
rs762624092
|
0.00004
|
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu)
|
rs755909523
|
0.00004
|
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val)
|
rs201022138
|
0.00004
|
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=)
|
rs762976916
|
0.00004
|
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser)
|
rs1388564782
|
0.00004
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
NM_004370.6(COL12A1):c.3630C>T (p.Ile1210=)
|
rs572531941
|
0.00004
|
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
|
rs370339027
|
0.00004
|
NM_004370.6(COL12A1):c.3861A>G (p.Gln1287=)
|
rs775456285
|
0.00004
|
NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=)
|
rs371112796
|
0.00004
|
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=)
|
rs553575841
|
0.00004
|
NM_000088.4(COL1A1):c.*1265C>T
|
rs567249120
|
0.00003
|
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)
|
rs765154255
|
0.00003
|
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys)
|
rs753683126
|
0.00003
|
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala)
|
rs761465504
|
0.00003
|
NM_000089.4(COL1A2):c.694-15T>C
|
rs779799840
|
0.00003
|
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=)
|
rs755731385
|
0.00003
|
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=)
|
rs369992399
|
0.00003
|
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys)
|
rs769752636
|
0.00003
|
NM_000093.5(COL5A1):c.1114G>A (p.Ala372Thr)
|
rs755289850
|
0.00003
|
NM_000093.5(COL5A1):c.1252G>C (p.Asp418His)
|
rs767752804
|
0.00003
|
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala)
|
rs535363331
|
0.00003
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
NM_000093.5(COL5A1):c.2042G>A (p.Arg681His)
|
rs371580094
|
0.00003
|
NM_000093.5(COL5A1):c.2415C>T (p.Gly805=)
|
rs769239532
|
0.00003
|
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln)
|
rs747046727
|
0.00003
|
NM_000093.5(COL5A1):c.2905C>G (p.Pro969Ala)
|
rs759627305
|
0.00003
|
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=)
|
rs766208976
|
0.00003
|
NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu)
|
rs768531108
|
0.00003
|
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=)
|
rs760754491
|
0.00003
|
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)
|
rs540131206
|
0.00003
|
NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln)
|
rs141768094
|
0.00003
|
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu)
|
rs140244245
|
0.00003
|
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=)
|
rs551695730
|
0.00003
|
NM_000093.5(COL5A1):c.3887C>T (p.Pro1296Leu)
|
rs771130127
|
0.00003
|
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala)
|
rs749162303
|
0.00003
|
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr)
|
rs759464073
|
0.00003
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu)
|
rs375540141
|
0.00003
|
NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln)
|
rs761802703
|
0.00003
|
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys)
|
rs753433375
|
0.00003
|
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile)
|
rs764763703
|
0.00003
|
NM_000093.5(COL5A1):c.5371-15C>T
|
rs369764872
|
0.00003
|
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu)
|
rs570691491
|
0.00003
|
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His)
|
rs757434449
|
0.00003
|
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)
|
rs769115550
|
0.00003
|
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val)
|
rs554232128
|
0.00003
|
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)
|
rs886039197
|
0.00003
|
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg)
|
rs149305351
|
0.00003
|
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu)
|
rs189320512
|
0.00003
|
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp)
|
rs756550702
|
0.00003
|
NM_001128225.3(SLC39A13):c.930T>C (p.Ser310=)
|
rs371311030
|
0.00003
|
NM_004370.6(COL12A1):c.5996T>G (p.Leu1999Arg)
|
rs774159573
|
0.00003
|
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=)
|
rs560354978
|
0.00003
|
NM_000088.4(COL1A1):c.*93A>G
|
rs367971695
|
0.00002
|
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)
|
rs543735501
|
0.00002
|
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=)
|
rs41264441
|
0.00002
|
NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn)
|
rs148288567
|
0.00002
|
NM_000093.5(COL5A1):c.1147A>G (p.Thr383Ala)
|
rs747758069
|
0.00002
|
NM_000093.5(COL5A1):c.1190C>T (p.Ala397Val)
|
rs537424110
|
0.00002
|
NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val)
|
rs752746395
|
0.00002
|
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys)
|
rs763456705
|
0.00002
|
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)
|
rs962170388
|
0.00002
|
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)
|
rs373460629
|
0.00002
|
NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys)
|
rs755546104
|
0.00002
|
NM_000093.5(COL5A1):c.1591G>A (p.Asp531Asn)
|
rs779170635
|
0.00002
|
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
|
rs749697867
|
0.00002
|
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu)
|
rs375600865
|
0.00002
|
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys)
|
rs146348246
|
0.00002
|
NM_000093.5(COL5A1):c.3599C>T (p.Pro1200Leu)
|
rs781363147
|
0.00002
|
NM_000093.5(COL5A1):c.3753G>A (p.Pro1251=)
|
rs779638584
|
0.00002
|
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys)
|
rs149717587
|
0.00002
|
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=)
|
rs745918663
|
0.00002
|
NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu)
|
rs863223459
|
0.00002
|
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp)
|
rs546865410
|
0.00002
|
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=)
|
rs863223481
|
0.00002
|
NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser)
|
rs772523567
|
0.00002
|
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)
|
rs558906147
|
0.00002
|
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His)
|
rs193275092
|
0.00002
|
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln)
|
rs767300218
|
0.00002
|
NM_000093.5(COL5A1):c.5294G>A (p.Arg1765His)
|
rs150608071
|
0.00002
|
NM_000093.5(COL5A1):c.5338C>T (p.Pro1780Ser)
|
rs781230603
|
0.00002
|
NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=)
|
rs200515325
|
0.00002
|
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn)
|
rs781248560
|
0.00002
|
NM_000393.5(COL5A2):c.2661+13G>T
|
rs534626192
|
0.00002
|
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg)
|
rs374402209
|
0.00002
|
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn)
|
rs201186702
|
0.00002
|
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=)
|
rs529257786
|
0.00002
|
NM_000393.5(COL5A2):c.750G>A (p.Pro250=)
|
rs751819198
|
0.00002
|
NM_000393.5(COL5A2):c.906+10A>T
|
rs776578452
|
0.00002
|
NM_004370.6(COL12A1):c.1647G>A (p.Thr549=)
|
rs761187970
|
0.00002
|
NM_004370.6(COL12A1):c.2437+13T>C
|
rs545025813
|
0.00002
|
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu)
|
rs193247334
|
0.00002
|
NM_017946.4(FKBP14):c.48_50del (p.Leu17del)
|
rs564626031
|
0.00002
|
NM_000088.4(COL1A1):c.-23G>A
|
rs200689194
|
0.00001
|
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)
|
rs72645362
|
0.00001
|
NM_000088.4(COL1A1):c.3815-10C>T
|
rs770568983
|
0.00001
|
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)
|
rs538844573
|
0.00001
|
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro)
|
rs757449082
|
0.00001
|
NM_000090.4(COL3A1):c.1509+7A>C
|
rs201740954
|
0.00001
|
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser)
|
rs771654029
|
0.00001
|
NM_000090.4(COL3A1):c.80-13A>C
|
rs566189676
|
0.00001
|
NM_000093.5(COL5A1):c.*1260G>A
|
rs557696379
|
0.00001
|
NM_000093.5(COL5A1):c.1000G>A (p.Gly334Ser)
|
rs751277764
|
0.00001
|
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys)
|
rs777789161
|
0.00001
|
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr)
|
rs768269251
|
0.00001
|
NM_000093.5(COL5A1):c.1172C>T (p.Pro391Leu)
|
rs373102877
|
0.00001
|
NM_000093.5(COL5A1):c.1264G>C (p.Asp422His)
|
rs760798318
|
0.00001
|
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)
|
rs751337133
|
0.00001
|
NM_000093.5(COL5A1):c.1499C>T (p.Pro500Leu)
|
rs778866843
|
0.00001
|
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)
|
rs535161301
|
0.00001
|
NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys)
|
rs764609002
|
0.00001
|
NM_000093.5(COL5A1):c.1943C>G (p.Pro648Arg)
|
rs143211526
|
0.00001
|
NM_000093.5(COL5A1):c.1978G>A (p.Asp660Asn)
|
rs990265730
|
0.00001
|
NM_000093.5(COL5A1):c.197G>A (p.Arg66Gln)
|
rs146074704
|
0.00001
|
NM_000093.5(COL5A1):c.2057C>T (p.Pro686Leu)
|
rs775102627
|
0.00001
|
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu)
|
rs1389473144
|
0.00001
|
NM_000093.5(COL5A1):c.2222C>T (p.Pro741Leu)
|
rs1422097890
|
0.00001
|
NM_000093.5(COL5A1):c.2264T>G (p.Met755Arg)
|
rs769653444
|
0.00001
|
NM_000093.5(COL5A1):c.2425G>A (p.Glu809Lys)
|
rs1032017865
|
0.00001
|
NM_000093.5(COL5A1):c.243G>A (p.Ala81=)
|
rs540291731
|
0.00001
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
NM_000093.5(COL5A1):c.253G>A (p.Ala85Thr)
|
rs756903629
|
0.00001
|
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)
|
rs781756159
|
0.00001
|
NM_000093.5(COL5A1):c.2681A>G (p.Asn894Ser)
|
rs542939338
|
0.00001
|
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=)
|
rs749844592
|
0.00001
|
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu)
|
rs772211736
|
0.00001
|
NM_000093.5(COL5A1):c.2725C>T (p.Arg909Trp)
|
rs1257715072
|
0.00001
|
NM_000093.5(COL5A1):c.277+9C>T
|
rs748589808
|
0.00001
|
NM_000093.5(COL5A1):c.2771G>A (p.Arg924Gln)
|
rs768711320
|
0.00001
|
NM_000093.5(COL5A1):c.2812G>C (p.Gly938Arg)
|
rs751950836
|
0.00001
|
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=)
|
rs750716466
|
0.00001
|
NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr)
|
rs774095835
|
0.00001
|
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser)
|
rs536758248
|
0.00001
|
NM_000093.5(COL5A1):c.3096T>A (p.Ala1032=)
|
rs140590510
|
0.00001
|
NM_000093.5(COL5A1):c.368A>G (p.Gln123Arg)
|
rs771075651
|
0.00001
|
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser)
|
rs1356081271
|
0.00001
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr)
|
rs863223451
|
0.00001
|
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg)
|
rs371550819
|
0.00001
|
NM_000093.5(COL5A1):c.4015-19C>T
|
rs527971001
|
0.00001
|
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly)
|
rs765920886
|
0.00001
|
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu)
|
rs201875250
|
0.00001
|
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His)
|
rs201582108
|
0.00001
|
NM_000093.5(COL5A1):c.458C>A (p.Pro153His)
|
rs771925785
|
0.00001
|
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu)
|
rs775335297
|
0.00001
|
NM_000093.5(COL5A1):c.4693C>T (p.Pro1565Ser)
|
rs770278589
|
0.00001
|
NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp)
|
rs758378927
|
0.00001
|
NM_000093.5(COL5A1):c.4813G>A (p.Ala1605Thr)
|
rs1024649360
|
0.00001
|
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=)
|
rs755728242
|
0.00001
|
NM_000093.5(COL5A1):c.4911C>T (p.Arg1637=)
|
rs778483767
|
0.00001
|
NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg)
|
rs730880064
|
0.00001
|
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)
|
rs746071518
|
0.00001
|
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)
|
rs188120737
|
0.00001
|
NM_000093.5(COL5A1):c.5125C>T (p.Arg1709Cys)
|
rs375586129
|
0.00001
|
NM_000093.5(COL5A1):c.5152G>A (p.Ala1718Thr)
|
rs760992656
|
0.00001
|
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr)
|
rs753339980
|
0.00001
|
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)
|
rs869025374
|
0.00001
|
NM_000093.5(COL5A1):c.5224G>A (p.Val1742Ile)
|
rs946316218
|
0.00001
|
NM_000093.5(COL5A1):c.5234A>G (p.His1745Arg)
|
rs370607849
|
0.00001
|
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr)
|
rs776748227
|
0.00001
|
NM_000093.5(COL5A1):c.5307C>T (p.Ser1769=)
|
rs754379329
|
0.00001
|
NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met)
|
rs761036527
|
0.00001
|
NM_000093.5(COL5A1):c.5453A>G (p.Asn1818Ser)
|
rs863223482
|
0.00001
|
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys)
|
rs765170704
|
0.00001
|
NM_000093.5(COL5A1):c.595A>G (p.Ile199Val)
|
rs1041369357
|
0.00001
|
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp)
|
rs775853003
|
0.00001
|
NM_000093.5(COL5A1):c.692G>A (p.Arg231Gln)
|
rs373597685
|
0.00001
|
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro)
|
rs863223440
|
0.00001
|
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met)
|
rs1312200383
|
0.00001
|
NM_000093.5(COL5A1):c.901A>G (p.Lys301Glu)
|
rs1445863121
|
0.00001
|
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val)
|
rs746454126
|
0.00001
|
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu)
|
rs1200990468
|
0.00001
|
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=)
|
rs201299226
|
0.00001
|
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=)
|
rs574148843
|
0.00001
|
NM_000393.5(COL5A2):c.383G>A (p.Arg128His)
|
rs757439328
|
0.00001
|
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys)
|
rs758136981
|
0.00001
|
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=)
|
rs531204336
|
0.00001
|
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu)
|
rs1335028282
|
0.00001
|
NM_000393.5(COL5A2):c.86A>G (p.Glu29Gly)
|
rs780865605
|
0.00001
|
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=)
|
rs576702857
|
0.00001
|
NM_001128225.3(SLC39A13):c.646-13C>T
|
rs773526046
|
0.00001
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala)
|
rs774323549
|
0.00001
|
NM_004370.6(COL12A1):c.1018T>C (p.Leu340=)
|
rs578252411
|
0.00001
|
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala)
|
rs200828190
|
0.00001
|
NM_004370.6(COL12A1):c.2164+18C>A
|
rs183023584
|
0.00001
|
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys)
|
rs778415707
|
0.00001
|
NM_004370.6(COL12A1):c.5795-5C>T
|
rs768037406
|
0.00001
|
NM_004370.6(COL12A1):c.5859C>T (p.Arg1953=)
|
rs534462036
|
0.00001
|
NM_004370.6(COL12A1):c.5889A>G (p.Gln1963=)
|
rs374671225
|
0.00001
|
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=)
|
rs202239067
|
0.00001
|
NM_013352.4(DSE):c.2334G>T (p.Leu778=)
|
rs534248134
|
0.00001
|
NM_014244.5(ADAMTS2):c.1596C>G (p.Pro532=)
|
rs766855796
|
0.00001
|
NM_000088.4(COL1A1):c.*88T>A
|
rs1061237
|
|
NM_000088.4(COL1A1):c.*88T>C
|
rs1061237
|
|
NM_000088.4(COL1A1):c.-98G>A
|
rs574683904
|
|
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1983+9G>T
|
rs201091992
|
|
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)
|
rs561374961
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000089.4(COL1A2):c.*654_*655insGTTGTCC
|
rs3917
|
|
NM_000089.4(COL1A2):c.1252-7del
|
rs35587403
|
|
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=)
|
rs412777
|
|
NM_000089.4(COL1A2):c.1863+6dup
|
|
|
NM_000089.4(COL1A2):c.2079+15dup
|
|
|
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=)
|
rs193229878
|
|
NM_000089.4(COL1A2):c.2133+12C>A
|
rs554520173
|
|
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr)
|
rs541473356
|
|
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr)
|
rs150179964
|
|
NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=)
|
rs1800248
|
|
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=)
|
rs1800248
|
|
NM_000089.4(COL1A2):c.52T>G (p.Cys18Gly)
|
rs200278401
|
|
NM_000089.4(COL1A2):c.71-7del
|
rs144776919
|
|
NM_000089.4(COL1A2):c.71-7dup
|
rs144776919
|
|
NM_000089.4(COL1A2):c.71-8_71-7dup
|
rs144776919
|
|
NM_000089.4(COL1A2):c.81+11del
|
rs193922174
|
|
NM_000089.4(COL1A2):c.81+17_81+18del
|
rs1791612191
|
|
NM_000090.4(COL3A1):c.*354C>T
|
rs41265555
|
|
NM_000090.4(COL3A1):c.1150-11del
|
|
|
NM_000090.4(COL3A1):c.1348-4del
|
rs758567906
|
|
NM_000090.4(COL3A1):c.1348-4dup
|
rs758567906
|
|
NM_000090.4(COL3A1):c.1348-5_1348-4del
|
rs758567906
|
|
NM_000090.4(COL3A1):c.1348-5_1348-4dup
|
|
|
NM_000090.4(COL3A1):c.1509+5A>G
|
rs572863064
|
|
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA
|
rs200204993
|
|
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.2022+17T>C
|
|
|
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)
|
rs148901664
|
|
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=)
|
rs551541918
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
NM_000090.4(COL3A1):c.3040-7dup
|
|
|
NM_000090.4(COL3A1):c.3202-9dup
|
|
|
NM_000090.4(COL3A1):c.3255+19dup
|
rs1246347975
|
|
NM_000090.4(COL3A1):c.3824-13dup
|
|
|
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=)
|
rs560861999
|
|
NM_000090.4(COL3A1):c.799-6del
|
rs767927599
|
|
NM_000093.5(COL5A1):c.*1086ATCT[1]
|
rs16399
|
|
NM_000093.5(COL5A1):c.*1807G>C
|
rs374715103
|
|
NM_000093.5(COL5A1):c.*733C>A
|
rs3196378
|
|
NM_000093.5(COL5A1):c.*870_*873dup
|
rs10628678
|
|
NM_000093.5(COL5A1):c.*948C>G
|
rs142032213
|
|
NM_000093.5(COL5A1):c.1020C>T (p.Tyr340=)
|
|
|
NM_000093.5(COL5A1):c.1023G>A (p.Val341=)
|
|
|
NM_000093.5(COL5A1):c.1049C>T (p.Ser350Leu)
|
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.1084G>A (p.Glu362Lys)
|
|
|
NM_000093.5(COL5A1):c.1102A>C (p.Thr368Pro)
|
rs766771487
|
|
NM_000093.5(COL5A1):c.1113C>T (p.Gly371=)
|
|
|
NM_000093.5(COL5A1):c.1141G>T (p.Ala381Ser)
|
|
|
NM_000093.5(COL5A1):c.1161C>T (p.Ser387=)
|
|
|
NM_000093.5(COL5A1):c.1173G>A (p.Pro391=)
|
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met)
|
rs758197769
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
NM_000093.5(COL5A1):c.1252G>A (p.Asp418Asn)
|
|
|
NM_000093.5(COL5A1):c.1333-3dup
|
rs773903401
|
|
NM_000093.5(COL5A1):c.1383C>G (p.Ile461Met)
|
rs61736827
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys)
|
rs754948598
|
|
NM_000093.5(COL5A1):c.1455C>T (p.Thr485=)
|
|
|
NM_000093.5(COL5A1):c.149A>C (p.Asn50Thr)
|
|
|
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser)
|
rs79138021
|
|
NM_000093.5(COL5A1):c.150C>T (p.Asn50=)
|
|
|
NM_000093.5(COL5A1):c.1583G>T (p.Gly528Val)
|
|
|
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)
|
rs769010469
|
|
NM_000093.5(COL5A1):c.1596G>A (p.Ala532=)
|
|
|
NM_000093.5(COL5A1):c.1608C>A (p.Gly536=)
|
|
|
NM_000093.5(COL5A1):c.1691T>A (p.Met564Lys)
|
rs1258095362
|
|
NM_000093.5(COL5A1):c.1733G>A (p.Ser578Asn)
|
|
|
NM_000093.5(COL5A1):c.1735G>A (p.Gly579Arg)
|
|
|
NM_000093.5(COL5A1):c.1762G>A (p.Val588Met)
|
|
|
NM_000093.5(COL5A1):c.180C>A (p.Gly60=)
|
|
|
NM_000093.5(COL5A1):c.1869A>C (p.Gln623His)
|
|
|
NM_000093.5(COL5A1):c.188C>T (p.Ala63Val)
|
|
|
NM_000093.5(COL5A1):c.1923G>T (p.Glu641Asp)
|
rs780322561
|
|
NM_000093.5(COL5A1):c.1936-21G>A
|
rs77716946
|
|
NM_000093.5(COL5A1):c.1970C>A (p.Pro657Gln)
|
|
|
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu)
|
rs370766020
|
|
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)
|
rs370766020
|
|
NM_000093.5(COL5A1):c.1990-12del
|
|
|
NM_000093.5(COL5A1):c.1990-12dup
|
rs1445580029
|
|
NM_000093.5(COL5A1):c.2031G>T (p.Glu677Asp)
|
|
|
NM_000093.5(COL5A1):c.2109C>T (p.Gly703=)
|
|
|
NM_000093.5(COL5A1):c.2118G>T (p.Gly706=)
|
|
|
NM_000093.5(COL5A1):c.2119C>A (p.Pro707Thr)
|
|
|
NM_000093.5(COL5A1):c.2133+14del
|
|
|
NM_000093.5(COL5A1):c.216T>C (p.Asp72=)
|
|
|
NM_000093.5(COL5A1):c.2202C>T (p.Pro734=)
|
|
|
NM_000093.5(COL5A1):c.2277C>T (p.Asp759=)
|
|
|
NM_000093.5(COL5A1):c.2332-3del
|
rs2132747868
|
|
NM_000093.5(COL5A1):c.2430+16C>T
|
rs530385215
|
|
NM_000093.5(COL5A1):c.2484+14G>A
|
rs371753763
|
|
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)
|
rs370547479
|
|
NM_000093.5(COL5A1):c.2545G>A (p.Gly849Arg)
|
|
|
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2569C>T (p.Pro857Ser)
|
rs1254955559
|
|
NM_000093.5(COL5A1):c.257C>G (p.Pro86Arg)
|
|
|
NM_000093.5(COL5A1):c.2586G>A (p.Gly862=)
|
|
|
NM_000093.5(COL5A1):c.2592+16C>G
|
rs145429817
|
|
NM_000093.5(COL5A1):c.2592+16C>T
|
rs145429817
|
|
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
|
rs900216804
|
|
NM_000093.5(COL5A1):c.2700+19dup
|
|
|
NM_000093.5(COL5A1):c.2701-15dup
|
|
|
NM_000093.5(COL5A1):c.2746-11C>G
|
|
|
NM_000093.5(COL5A1):c.2800-18C>A
|
rs73664144
|
|
NM_000093.5(COL5A1):c.2800-18C>T
|
rs73664144
|
|
NM_000093.5(COL5A1):c.2830C>T (p.Pro944Ser)
|
|
|
NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu)
|
rs756440511
|
|
NM_000093.5(COL5A1):c.2899-7dup
|
|
|
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser)
|
rs759627305
|
|
NM_000093.5(COL5A1):c.2929C>T (p.His977Tyr)
|
|
|
NM_000093.5(COL5A1):c.2970C>T (p.Thr990=)
|
|
|
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser)
|
rs187022757
|
|
NM_000093.5(COL5A1):c.2986C>T (p.Pro996Ser)
|
rs774351619
|
|
NM_000093.5(COL5A1):c.3031A>G (p.Met1011Val)
|
|
|
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala)
|
rs751792216
|
|
NM_000093.5(COL5A1):c.3228T>C (p.Asn1076=)
|
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
NM_000093.5(COL5A1):c.3333A>C (p.Gly1111=)
|
|
|
NM_000093.5(COL5A1):c.3335C>T (p.Pro1112Leu)
|
|
|
NM_000093.5(COL5A1):c.338A>G (p.Gln113Arg)
|
|
|
NM_000093.5(COL5A1):c.3454C>T (p.Pro1152Ser)
|
rs1424921275
|
|
NM_000093.5(COL5A1):c.3488A>C (p.Glu1163Ala)
|
|
|
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr)
|
rs1160540030
|
|
NM_000093.5(COL5A1):c.3528+46G>C
|
rs3827850
|
|
NM_000093.5(COL5A1):c.3535C>T (p.Pro1179Ser)
|
|
|
NM_000093.5(COL5A1):c.3738C>A (p.Gly1246=)
|
|
|
NM_000093.5(COL5A1):c.3784G>A (p.Ala1262Thr)
|
rs1211791316
|
|
NM_000093.5(COL5A1):c.3859C>A (p.Pro1287Thr)
|
|
|
NM_000093.5(COL5A1):c.3906+15G>A
|
rs370937109
|
|
NM_000093.5(COL5A1):c.3906+15G>C
|
rs370937109
|
|
NM_000093.5(COL5A1):c.3964C>A (p.Pro1322Thr)
|
|
|
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)
|
rs776564144
|
|
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala)
|
rs762699995
|
|
NM_000093.5(COL5A1):c.4190C>G (p.Pro1397Arg)
|
|
|
NM_000093.5(COL5A1):c.4273A>T (p.Ile1425Phe)
|
|
|
NM_000093.5(COL5A1):c.431C>T (p.Thr144Met)
|
rs561761305
|
|
NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu)
|
rs201335857
|
|
NM_000093.5(COL5A1):c.4378C>T (p.Pro1460Ser)
|
rs773125713
|
|
NM_000093.5(COL5A1):c.4393-13C>A
|
|
|
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
|
rs2228560
|
|
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)
|
rs2228560
|
|
NM_000093.5(COL5A1):c.4523C>T (p.Pro1508Leu)
|
|
|
NM_000093.5(COL5A1):c.452A>G (p.Asp151Gly)
|
|
|
NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu)
|
rs373089071
|
|
NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=)
|
|
|
NM_000093.5(COL5A1):c.466C>T (p.Arg156Trp)
|
|
|
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=)
|
rs61735501
|
|
NM_000093.5(COL5A1):c.4699-3del
|
rs1554808051
|
|
NM_000093.5(COL5A1):c.4704C>T (p.Pro1568=)
|
|
|
NM_000093.5(COL5A1):c.4714G>A (p.Val1572Ile)
|
rs543014323
|
|
NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln)
|
rs531431738
|
|
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)
|
rs149212775
|
|
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly)
|
rs145175057
|
|
NM_000093.5(COL5A1):c.4954+17dup
|
rs757067716
|
|
NM_000093.5(COL5A1):c.4971T>C (p.Asp1657=)
|
|
|
NM_000093.5(COL5A1):c.49G>T (p.Ala17Ser)
|
|
|
NM_000093.5(COL5A1):c.5033C>T (p.Ser1678Leu)
|
|
|
NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=)
|
|
|
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)
|
|
|
NM_000093.5(COL5A1):c.5057A>G (p.Lys1686Arg)
|
|
|
NM_000093.5(COL5A1):c.5062G>A (p.Glu1688Lys)
|
|
|
NM_000093.5(COL5A1):c.5148G>A (p.Val1716=)
|
rs772597610
|
|
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)
|
rs201379514
|
|
NM_000093.5(COL5A1):c.5202G>C (p.Leu1734=)
|
|
|
NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=)
|
|
|
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr)
|
rs769947722
|
|
NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=)
|
|
|
NM_000093.5(COL5A1):c.5311G>T (p.Asp1771Tyr)
|
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.5354T>C (p.Leu1785Pro)
|
|
|
NM_000093.5(COL5A1):c.5414C>G (p.Pro1805Arg)
|
rs377563294
|
|
NM_000093.5(COL5A1):c.5428G>T (p.Val1810Leu)
|
|
|
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val)
|
rs747656987
|
|
NM_000093.5(COL5A1):c.5510T>C (p.Met1837Thr)
|
|
|
NM_000093.5(COL5A1):c.576C>A (p.Asp192Glu)
|
|
|
NM_000093.5(COL5A1):c.601A>C (p.Ile201Leu)
|
rs371351417
|
|
NM_000093.5(COL5A1):c.616G>A (p.Val206Met)
|
|
|
NM_000093.5(COL5A1):c.626C>T (p.Thr209Ile)
|
|
|
NM_000093.5(COL5A1):c.646G>T (p.Val216Leu)
|
|
|
NM_000093.5(COL5A1):c.731G>A (p.Cys244Tyr)
|
|
|
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser)
|
rs748603743
|
|
NM_000093.5(COL5A1):c.840C>T (p.Tyr280=)
|
|
|
NM_000093.5(COL5A1):c.851A>G (p.Glu284Gly)
|
|
|
NM_000093.5(COL5A1):c.857T>C (p.Leu286Pro)
|
|
|
NM_000093.5(COL5A1):c.889G>A (p.Val297Met)
|
|
|
NM_000093.5(COL5A1):c.891G>A (p.Val297=)
|
|
|
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg)
|
rs367726185
|
|
NM_000093.5(COL5A1):c.935C>T (p.Pro312Leu)
|
rs367726185
|
|
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
|
|
|
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu)
|
rs576742644
|
|
NM_000302.4(PLOD1):c.1903-14dup
|
rs748794198
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_000302.4(PLOD1):c.577A>C (p.Arg193=)
|
rs569590633
|
|
NM_000302.4(PLOD1):c.76+22del
|
|
|
NM_000302.4(PLOD1):c.77-3339C>T
|
|
|
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser)
|
rs538602187
|
|
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val)
|
rs76148000
|
|
NM_000393.5(COL5A2):c.1216G>A (p.Glu406Lys)
|
|
|
NM_000393.5(COL5A2):c.1455+6G>A
|
rs113512079
|
|
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.1515C>T (p.Pro505=)
|
|
|
NM_000393.5(COL5A2):c.1524C>T (p.Asp508=)
|
|
|
NM_000393.5(COL5A2):c.16G>A (p.Ala6Thr)
|
|
|
NM_000393.5(COL5A2):c.1717-9dup
|
|
|
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
|
|
|
NM_000393.5(COL5A2):c.1869+12G>A
|
|
|
NM_000393.5(COL5A2):c.1900A>C (p.Asn634His)
|
|
|
NM_000393.5(COL5A2):c.2086-12del
|
rs5837121
|
|
NM_000393.5(COL5A2):c.2086-13_2086-12del
|
rs5837121
|
|
NM_000393.5(COL5A2):c.2086-13_2086-12dup
|
|
|
NM_000393.5(COL5A2):c.2086-23dup
|
rs5837121
|
|
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu)
|
rs150260969
|
|
NM_000393.5(COL5A2):c.233A>G (p.Asp78Gly)
|
|
|
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro)
|
rs751683516
|
|
NM_000393.5(COL5A2):c.2661+20G>T
|
rs79623676
|
|
NM_000393.5(COL5A2):c.2770-15del
|
rs577038385
|
|
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
|
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
|
|
|
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
|
|
|
NM_000393.5(COL5A2):c.3310-19dup
|
rs767565265
|
|
NM_000393.5(COL5A2):c.3363+17del
|
|
|
NM_000393.5(COL5A2):c.3497C>G (p.Ala1166Gly)
|
|
|
NM_000393.5(COL5A2):c.414A>T (p.Gly138=)
|
|
|
NM_000393.5(COL5A2):c.539C>A (p.Ser180Tyr)
|
|
|
NM_000393.5(COL5A2):c.552C>T (p.Pro184=)
|
rs548352939
|
|
NM_000393.5(COL5A2):c.799-15dup
|
rs1169314276
|
|
NM_000393.5(COL5A2):c.961-11dup
|
rs542134887
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001129.5(AEBP1):c.863-37dup
|
rs58863562
|
|
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)
|
rs201510617
|
|
NM_001365276.2(TNXB):c.2516-17_2516-15del
|
rs199775035
|
|
NM_001365276.2(TNXB):c.6902C>A (p.Pro2301His)
|
rs2269428
|
|
NM_001365276.2(TNXB):c.8542G>A (p.Gly2848Arg)
|
rs61745355
|
|
NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr)
|
rs149492184
|
|
NM_001365276.2(TNXB):c.9440-12_9440-10del
|
rs199828189
|
|
NM_001367624.2(ZNF469):c.*551TCCTCCCTCTGACCACAGGGTCATGCC[3]
|
rs6145934
|
|
NM_001367624.2(ZNF469):c.*618T>G
|
rs3859020
|
|
NM_001367624.2(ZNF469):c.*870del
|
rs35684712
|
|
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)
|
rs199528724
|
|
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser)
|
rs56236932
|
|
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val)
|
rs140056980
|
|
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=)
|
rs78022634
|
|
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro)
|
rs11648572
|
|
NM_001367624.2(ZNF469):c.11406C>A (p.His3802Gln)
|
rs141042464
|
|
NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del)
|
rs113102840
|
|
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val)
|
rs145186655
|
|
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)
|
rs568046708
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=)
|
rs201666199
|
|
NM_001367624.2(ZNF469):c.6414G>T (p.Ser2138=)
|
rs548774131
|
|
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=)
|
rs12919507
|
|
NM_001367624.2(ZNF469):c.8543A>G (p.Asp2848Gly)
|
rs1457868844
|
|
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del)
|
rs281865162
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003309.4(TSPYL1):c.523GTG[3] (p.Val176_Lys177insVal)
|
rs56100880
|
|
NM_004370.6(COL12A1):c.1101C>A (p.Ile367=)
|
|
|
NM_004370.6(COL12A1):c.1170T>C (p.Ser390=)
|
|
|
NM_004370.6(COL12A1):c.1296A>G (p.Ser432=)
|
|
|
NM_004370.6(COL12A1):c.1317C>T (p.Ala439=)
|
|
|
NM_004370.6(COL12A1):c.15T>C (p.Leu5=)
|
|
|
NM_004370.6(COL12A1):c.1892-19_1892-18dup
|
rs11347601
|
|
NM_004370.6(COL12A1):c.1892-19dup
|
rs11347601
|
|
NM_004370.6(COL12A1):c.1892-6_1892-5insT
|
rs752652515
|
|
NM_004370.6(COL12A1):c.1892-7del
|
rs11347601
|
|
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe)
|
rs200315815
|
|
NM_004370.6(COL12A1):c.1945A>C (p.Lys649Gln)
|
|
|
NM_004370.6(COL12A1):c.2438-8dup
|
rs1032205753
|
|
NM_004370.6(COL12A1):c.2711-15dup
|
|
|
NM_004370.6(COL12A1):c.3066A>G (p.Lys1022=)
|
|
|
NM_004370.6(COL12A1):c.3180A>G (p.Thr1060=)
|
|
|
NM_004370.6(COL12A1):c.334+18del
|
rs2149478980
|
|
NM_004370.6(COL12A1):c.335-8del
|
rs2149478420
|
|
NM_004370.6(COL12A1):c.3774C>T (p.Asp1258=)
|
|
|
NM_004370.6(COL12A1):c.4263A>G (p.Pro1421=)
|
|
|
NM_004370.6(COL12A1):c.4347A>G (p.Glu1449=)
|
|
|
NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=)
|
rs558383133
|
|
NM_004370.6(COL12A1):c.4650C>T (p.His1550=)
|
|
|
NM_004370.6(COL12A1):c.5109T>C (p.Asn1703=)
|
|
|
NM_004370.6(COL12A1):c.5209C>G (p.Leu1737Val)
|
rs769221057
|
|
NM_004370.6(COL12A1):c.5394+10dup
|
|
|
NM_004370.6(COL12A1):c.6624A>G (p.Thr2208=)
|
|
|
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=)
|
rs35551395
|
|
NM_004370.6(COL12A1):c.7344C>T (p.Ile2448=)
|
|
|
NM_004370.6(COL12A1):c.7674T>C (p.Asn2558=)
|
|
|
NM_004370.6(COL12A1):c.7698-19_7698-15del
|
rs141102808
|
|
NM_004370.6(COL12A1):c.8133T>C (p.Ser2711=)
|
|
|
NM_004370.6(COL12A1):c.8136A>C (p.Pro2712=)
|
|
|
NM_004370.6(COL12A1):c.824-10dup
|
|
|
NM_004370.6(COL12A1):c.8319+13del
|
|
|
NM_004370.6(COL12A1):c.8463C>T (p.Gly2821=)
|
|
|
NM_004370.6(COL12A1):c.8469+9G>T
|
|
|
NM_004370.6(COL12A1):c.8685+18dup
|
rs763196298
|
|
NM_004370.6(COL12A1):c.8697T>G (p.Ala2899=)
|
|
|
NM_004370.6(COL12A1):c.9010+15A>G
|
|
|
NM_004370.6(COL12A1):c.9081C>T (p.Gly3027=)
|
|
|
NM_004370.6(COL12A1):c.9169C>T (p.Gln3057Ter)
|
|
|
NM_004370.6(COL12A1):c.987T>C (p.Ser329=)
|
|
|
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.575-9dup
|
rs863223798
|
|
NM_007255.3(B4GALT7):c.413+60C>G
|
rs28499092
|
|
NM_007255.3(B4GALT7):c.723+19del
|
|
|
NM_013352.4(DSE):c.2619_2621del (p.Gly874del)
|
rs111252008
|
|
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)
|
rs41285549
|
|
NM_014244.5(ADAMTS2):c.1383-5dup
|
|
|
NM_014244.5(ADAMTS2):c.139+19dup
|
|
|
NM_014244.5(ADAMTS2):c.1630-46G>A
|
rs34369919
|
|
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=)
|
rs376058580
|
|
NM_014244.5(ADAMTS2):c.1952-18del
|
|
|
NM_014244.5(ADAMTS2):c.2210-2del
|
rs1219329381
|
|
NM_014244.5(ADAMTS2):c.2617+9dup
|
rs745450151
|
|
NM_014244.5(ADAMTS2):c.2750+12dup
|
|
|
NM_014244.5(ADAMTS2):c.2751-16dup
|
|
|
NM_014244.5(ADAMTS2):c.2958+14del
|
rs755404765
|
|
NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del)
|
rs568040559
|
|
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup)
|
rs568040559
|
|
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His)
|
rs11750821
|
|
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup)
|
rs1064794627
|
|
NM_014244.5(ADAMTS2):c.891+10del
|
rs2113373949
|
|
NM_018699.4(PRDM5):c.1031-6dup
|
rs35363618
|
|
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg)
|
rs867336520
|
|
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup)
|
rs1553151151
|
|