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_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_001367624.2(ZNF469):c.11856C>T (p.Ser3952=)
|
rs4782362
|
0.98833
|
NM_001367624.2(ZNF469):c.*788G>A
|
rs3894713
|
0.98791
|
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_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)
|
rs4782300
|
0.87223
|
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=)
|
rs12927001
|
0.86712
|
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_014244.5(ADAMTS2):c.*1468A>G
|
rs2059776
|
0.72686
|
NM_000093.5(COL5A1):c.*1125A>T
|
rs1134170
|
0.66610
|
NM_000093.5(COL5A1):c.*2501T>C
|
rs3128575
|
0.63348
|
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=)
|
rs12918876
|
0.60216
|
NM_000093.5(COL5A1):c.1432-5T>C
|
rs3128612
|
0.57159
|
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_014244.5(ADAMTS2):c.*212A>C
|
rs10479525
|
0.47333
|
NM_014244.5(ADAMTS2):c.*842T>C
|
rs10038484
|
0.46646
|
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln)
|
rs1105066
|
0.44478
|
NM_000093.5(COL5A1):c.*267C>T
|
rs12722
|
0.43648
|
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=)
|
rs3812953
|
0.43642
|
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.4176+9T>G
|
rs10858282
|
0.31743
|
NM_014244.5(ADAMTS2):c.*2396C>T
|
rs3797615
|
0.30656
|
NM_018699.4(PRDM5):c.681A>G (p.Leu227=)
|
rs343192
|
0.28756
|
NM_000089.4(COL1A2):c.1665+15A>G
|
rs421587
|
0.28734
|
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)
|
rs1801184
|
0.27758
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_000089.4(COL1A2):c.246T>C (p.Asp82=)
|
rs1800222
|
0.25224
|
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_001367624.2(ZNF469):c.*8G>A
|
rs45504291
|
0.24166
|
NM_014244.5(ADAMTS2):c.*1586A>G
|
rs888760
|
0.23763
|
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.1978-11C>T
|
rs13306272
|
0.23521
|
NM_000090.4(COL3A1):c.*799_*800del
|
rs13306265
|
0.23375
|
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
NM_000093.5(COL5A1):c.*894T>C
|
rs11103544
|
0.20603
|
NM_000089.4(COL1A2):c.*194C>T
|
rs1060399
|
0.20320
|
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=)
|
rs2278221
|
0.20236
|
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=)
|
rs12499000
|
0.19996
|
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_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_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_001367624.2(ZNF469):c.*845T>C
|
rs7187709
|
0.13371
|
NM_000090.4(COL3A1):c.1293+15T>A
|
rs2271679
|
0.13320
|
NM_000393.5(COL5A2):c.568-10G>A
|
rs58106884
|
0.13056
|
NM_000088.4(COL1A1):c.*1011T>C
|
rs1061970
|
0.12435
|
NM_000089.4(COL1A2):c.87T>C (p.Thr29=)
|
rs1801182
|
0.12315
|
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=)
|
rs61472141
|
0.10977
|
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_001367624.2(ZNF469):c.*46C>A
|
rs78600508
|
0.08121
|
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)
|
rs41306391
|
0.08110
|
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_000393.5(COL5A2):c.*298G>A
|
rs7586
|
0.07221
|
NM_000093.5(COL5A1):c.*311C>T
|
rs1134114
|
0.06809
|
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu)
|
rs141218390
|
0.06780
|
NM_001367624.2(ZNF469):c.*907G>A
|
rs1048192
|
0.06751
|
NM_001367624.2(ZNF469):c.*921_*922insG
|
rs11382974
|
0.06632
|
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_000093.5(COL5A1):c.*1443G>A
|
rs10895
|
0.05700
|
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=)
|
rs2230898
|
0.05658
|
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_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)
|
rs113937803
|
0.04541
|
NM_000093.5(COL5A1):c.2745+15A>T
|
rs79481146
|
0.04340
|
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_014244.5(ADAMTS2):c.2730A>G (p.Pro910=)
|
rs6869261
|
0.03924
|
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)
|
rs2228559
|
0.03652
|
NM_001367624.2(ZNF469):c.*634C>A
|
rs74032868
|
0.03588
|
NM_018699.4(PRDM5):c.849G>A (p.Gln283=)
|
rs17051264
|
0.03566
|
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)
|
rs35830636
|
0.03364
|
NM_000302.4(PLOD1):c.*440G>C
|
rs11553681
|
0.03198
|
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=)
|
rs78511105
|
0.03168
|
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_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr)
|
rs3812955
|
0.02902
|
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=)
|
rs35462609
|
0.02744
|
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_000089.4(COL1A2):c.1878G>T (p.Val626=)
|
rs1800238
|
0.02599
|
NM_000093.5(COL5A1):c.*1562A>G
|
rs116561240
|
0.02592
|
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln)
|
rs35445112
|
0.02575
|
NM_000093.5(COL5A1):c.4393-9C>T
|
rs11792181
|
0.02555
|
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_001367624.2(ZNF469):c.1827G>A (p.Ser609=)
|
rs148616993
|
0.02438
|
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_000093.5(COL5A1):c.*724C>T
|
rs116156416
|
0.02219
|
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_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_014244.5(ADAMTS2):c.*2918G>A
|
rs60250623
|
0.02037
|
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_018699.4(PRDM5):c.1066T>A (p.Ser356Thr)
|
rs140634372
|
0.01952
|
NM_000302.4(PLOD1):c.540G>A (p.Gln180=)
|
rs35958757
|
0.01887
|
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)
|
rs41272837
|
0.01840
|
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_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=)
|
rs115790991
|
0.01614
|
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)
|
rs78905646
|
0.01586
|
NM_000093.5(COL5A1):c.*1637C>A
|
rs148823980
|
0.01576
|
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_000090.4(COL3A1):c.1770T>C (p.Pro590=)
|
rs80302667
|
0.01481
|
NM_000093.5(COL5A1):c.*1806C>T
|
rs11556648
|
0.01480
|
NM_000093.5(COL5A1):c.5068-7T>C
|
rs113256540
|
0.01472
|
NM_000093.5(COL5A1):c.*660G>A
|
rs73664168
|
0.01440
|
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr)
|
rs57052487
|
0.01385
|
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_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)
|
rs181077813
|
0.01341
|
NM_000088.4(COL1A1):c.298+7C>A
|
rs41317345
|
0.01333
|
NM_000089.4(COL1A2):c.*205A>G
|
rs6955879
|
0.01322
|
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_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_000393.5(COL5A2):c.98-12T>G
|
rs117917418
|
0.01199
|
NM_018699.4(PRDM5):c.*120T>C
|
rs77157999
|
0.01181
|
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)
|
rs61729481
|
0.01170
|
NM_014244.5(ADAMTS2):c.*2196T>A
|
rs147985762
|
0.01159
|
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_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser)
|
rs113484918
|
0.01110
|
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_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_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_000093.5(COL5A1):c.*629A>G
|
rs150345666
|
0.00897
|
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=)
|
rs141666432
|
0.00893
|
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=)
|
rs147859144
|
0.00882
|
NM_001367624.2(ZNF469):c.*665G>A
|
rs75706884
|
0.00863
|
NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=)
|
rs143852982
|
0.00854
|
NM_000093.5(COL5A1):c.-110A>G
|
rs180741151
|
0.00852
|
NM_001367624.2(ZNF469):c.952G>A (p.Val318Met)
|
rs139066376
|
0.00852
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_000090.4(COL3A1):c.*34T>G
|
rs191843385
|
0.00838
|
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_000093.5(COL5A1):c.5151C>T (p.Asp1717=)
|
rs61729558
|
0.00781
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=)
|
rs61731454
|
0.00766
|
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=)
|
rs74547407
|
0.00765
|
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_001367624.2(ZNF469):c.8625G>A (p.Pro2875=)
|
rs138771545
|
0.00751
|
NM_014244.5(ADAMTS2):c.*1719T>C
|
rs56153390
|
0.00751
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
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_001367624.2(ZNF469):c.8067G>A (p.Gly2689=)
|
rs116213189
|
0.00697
|
NM_014244.5(ADAMTS2):c.*816C>T
|
rs116130524
|
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_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
NM_000302.3(PLOD1):c.-77G>A
|
rs144465849
|
0.00649
|
NM_000093.5(COL5A1):c.*283G>A
|
rs114171895
|
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_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_001367624.2(ZNF469):c.*264A>G
|
rs193210256
|
0.00591
|
NM_001367624.2(ZNF469):c.627G>T (p.Gly209=)
|
rs113227277
|
0.00590
|
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)
|
rs184583062
|
0.00587
|
NM_000093.5(COL5A1):c.*14C>T
|
rs12553247
|
0.00580
|
NM_000393.5(COL5A2):c.*798A>G
|
rs116775405
|
0.00567
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)
|
rs34940368
|
0.00563
|
NM_014244.5(ADAMTS2):c.1629+9G>A
|
rs115550684
|
0.00560
|
NM_000093.5(COL5A1):c.*269C>T
|
rs372857096
|
0.00557
|
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_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_000093.5(COL5A1):c.*190G>A
|
rs55748801
|
0.00500
|
NM_000093.5(COL5A1):c.5137-12C>T
|
rs191758714
|
0.00488
|
NM_000393.5(COL5A2):c.*391A>G
|
rs143552248
|
0.00486
|
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_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_000093.5(COL5A1):c.-382C>G
|
rs555826102
|
0.00465
|
NM_014244.5(ADAMTS2):c.1695C>T (p.Gly565=)
|
rs116708837
|
0.00461
|
NM_014244.5(ADAMTS2):c.*977G>A
|
rs138084603
|
0.00451
|
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_001367624.2(ZNF469):c.*599C>G
|
rs146233624
|
0.00440
|
NM_000088.4(COL1A1):c.750+12G>T
|
rs79480112
|
0.00434
|
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)
|
rs35759441
|
0.00430
|
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)
|
rs61757478
|
0.00427
|
NM_000393.5(COL5A2):c.*525A>G
|
rs10195176
|
0.00418
|
NM_014244.5(ADAMTS2):c.*2587T>C
|
rs140304884
|
0.00414
|
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=)
|
rs34691365
|
0.00404
|
NM_000393.5(COL5A2):c.*1076G>A
|
rs114123906
|
0.00382
|
NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=)
|
rs186652137
|
0.00374
|
NM_000089.4(COL1A2):c.*415T>G
|
rs148913603
|
0.00367
|
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=)
|
rs543846859
|
0.00365
|
NM_000093.5(COL5A1):c.1333-8A>G
|
rs145620416
|
0.00360
|
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His)
|
rs182269913
|
0.00354
|
NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr)
|
rs376054177
|
0.00353
|
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=)
|
rs34038163
|
0.00352
|
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)
|
rs2229817
|
0.00346
|
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val)
|
rs562559927
|
0.00344
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_000089.4(COL1A2):c.1036-14G>A
|
rs114322680
|
0.00338
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr)
|
rs144986357
|
0.00330
|
NM_014244.5(ADAMTS2):c.*1639C>T
|
rs138971097
|
0.00330
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_014244.5(ADAMTS2):c.2751-4G>A
|
rs112155474
|
0.00324
|
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_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_000093.5(COL5A1):c.240C>T (p.Asp80=)
|
rs79724538
|
0.00288
|
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=)
|
rs539527724
|
0.00287
|
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)
|
rs143443499
|
0.00283
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser)
|
rs184894059
|
0.00268
|
NM_001367624.2(ZNF469):c.8869G>A (p.Gly2957Ser)
|
rs573884006
|
0.00266
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_000088.4(COL1A1):c.*1088G>A
|
rs191326459
|
0.00264
|
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)
|
rs117501524
|
0.00258
|
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr)
|
rs145158875
|
0.00255
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_014244.5(ADAMTS2):c.*2854T>C
|
rs11740156
|
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_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
NM_000088.4(COL1A1):c.-57G>A
|
rs2734278
|
0.00229
|
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys)
|
rs117995699
|
0.00222
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
NM_000088.4(COL1A1):c.*548C>A
|
rs557681960
|
0.00220
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_001367624.2(ZNF469):c.*420G>A
|
rs45532839
|
0.00219
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
NM_000093.5(COL5A1):c.*58C>T
|
rs56259444
|
0.00207
|
NM_001367624.2(ZNF469):c.*421G>T
|
rs148260049
|
0.00207
|
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)
|
rs145281966
|
0.00199
|
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His)
|
rs201943633
|
0.00196
|
NM_000090.4(COL3A1):c.*828G>T
|
rs372150712
|
0.00194
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
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_001367624.2(ZNF469):c.*518G>A
|
rs563015267
|
0.00189
|
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu)
|
rs76389306
|
0.00188
|
NM_000090.4(COL3A1):c.*674G>A
|
rs190903102
|
0.00185
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
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_001367624.2(ZNF469):c.139G>A (p.Gly47Ser)
|
rs138954293
|
0.00180
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn)
|
rs758419331
|
0.00169
|
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln)
|
rs73428220
|
0.00167
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
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_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)
|
rs2271683
|
0.00158
|
NM_000088.4(COL1A1):c.*378C>G
|
rs148131473
|
0.00150
|
NM_014244.5(ADAMTS2):c.*2141G>T
|
rs77882118
|
0.00149
|
NM_000093.5(COL5A1):c.*2429T>C
|
rs56031840
|
0.00148
|
NM_014244.5(ADAMTS2):c.*1361A>G
|
rs142875628
|
0.00148
|
NM_000090.4(COL3A1):c.*923A>T
|
rs146222772
|
0.00146
|
NM_000089.4(COL1A2):c.1350+11A>T
|
rs193922160
|
0.00140
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)
|
rs569602115
|
0.00135
|
NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile)
|
rs536586591
|
0.00135
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_000393.5(COL5A2):c.33C>T (p.Leu11=)
|
rs140108893
|
0.00130
|
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_014244.5(ADAMTS2):c.*2853G>A
|
rs565652629
|
0.00121
|
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_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_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)
|
rs140022033
|
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_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)
|
rs143764421
|
0.00102
|
NM_000088.4(COL1A1):c.2613+14G>A
|
rs41316685
|
0.00101
|
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=)
|
rs373162171
|
0.00101
|
NM_014244.5(ADAMTS2):c.2958+4C>T
|
rs375345961
|
0.00100
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_000090.4(COL3A1):c.1051-13G>A
|
rs371934572
|
0.00093
|
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu)
|
rs273585618
|
0.00093
|
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys)
|
rs543370102
|
0.00093
|
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr)
|
rs199932922
|
0.00092
|
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=)
|
rs554795578
|
0.00090
|
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_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala)
|
rs141650732
|
0.00086
|
NM_000093.5(COL5A1):c.*187C>T
|
rs565085023
|
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_014244.5(ADAMTS2):c.*2598A>G
|
rs371733200
|
0.00083
|
NM_001365276.2(TNXB):c.11227G>A (p.Asp3743Asn)
|
rs1254121532
|
0.00082
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn)
|
rs867530230
|
0.00081
|
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)
|
rs551591362
|
0.00080
|
NM_014244.5(ADAMTS2):c.*1573A>C
|
rs560216364
|
0.00080
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
NM_018699.3(PRDM5):c.-234C>T
|
rs111704622
|
0.00077
|
NM_000393.5(COL5A2):c.*848T>C
|
rs72902303
|
0.00076
|
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)
|
rs75542756
|
0.00076
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000093.5(COL5A1):c.*865T>A
|
rs910306671
|
0.00073
|
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu)
|
rs183760368
|
0.00073
|
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln)
|
rs200153921
|
0.00073
|
NM_014244.5(ADAMTS2):c.*183T>C
|
rs184732586
|
0.00073
|
NM_018699.3(PRDM5):c.-172C>T
|
rs558723351
|
0.00072
|
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp)
|
rs146228268
|
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_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg)
|
rs772817384
|
0.00068
|
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=)
|
rs573582117
|
0.00068
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
NM_000093.5(COL5A1):c.252C>T (p.Ser84=)
|
rs151293601
|
0.00066
|
NM_014244.5(ADAMTS2):c.*1919T>G
|
rs574968586
|
0.00066
|
NM_014244.5(ADAMTS2):c.*707A>G
|
rs149592164
|
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_001367624.2(ZNF469):c.*1071A>T
|
rs536887736
|
0.00065
|
NM_000093.5(COL5A1):c.-364G>C
|
rs780212970
|
0.00064
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
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_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg)
|
rs150539264
|
0.00061
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_014244.5(ADAMTS2):c.*524G>A
|
rs565021011
|
0.00061
|
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)
|
rs141348218
|
0.00061
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
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.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_000093.5(COL5A1):c.*2485G>A
|
rs146334187
|
0.00057
|
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)
|
rs142313124
|
0.00057
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
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_014244.5(ADAMTS2):c.1083T>C (p.Asp361=)
|
rs150079799
|
0.00054
|
NM_014244.5(ADAMTS2):c.*288G>A
|
rs59090242
|
0.00053
|
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly)
|
rs536054902
|
0.00052
|
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)
|
rs273585636
|
0.00052
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)
|
rs34781844
|
0.00050
|
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=)
|
rs775513309
|
0.00050
|
NM_001367624.2(ZNF469):c.5577G>A (p.Pro1859=)
|
rs764487066
|
0.00049
|
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln)
|
rs117222015
|
0.00048
|
NM_014244.5(ADAMTS2):c.*813G>C
|
rs577299266
|
0.00046
|
NM_000088.4(COL1A1):c.*981G>C
|
rs574167621
|
0.00045
|
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=)
|
rs763826959
|
0.00045
|
NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr)
|
rs557997233
|
0.00045
|
NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=)
|
rs149391669
|
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_014244.5(ADAMTS2):c.2892C>T (p.Pro964=)
|
rs546361762
|
0.00044
|
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp)
|
rs575820215
|
0.00043
|
NM_000093.5(COL5A1):c.*42C>G
|
rs374547961
|
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_000393.5(COL5A2):c.-96G>T
|
rs28384400
|
0.00040
|
NM_014244.5(ADAMTS2):c.-13C>A
|
rs886060499
|
0.00040
|
NM_014244.5(ADAMTS2):c.2085+11A>G
|
rs139255728
|
0.00040
|
NM_000088.4(COL1A1):c.-66G>A
|
rs565562045
|
0.00039
|
NM_000093.5(COL5A1):c.*55G>A
|
rs533831376
|
0.00039
|
NM_000088.4(COL1A1):c.462C>T (p.Gly154=)
|
rs41317351
|
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.*904A>C
|
rs778818824
|
0.00038
|
NM_018699.4(PRDM5):c.743+14G>A
|
rs185567213
|
0.00038
|
NM_000093.5(COL5A1):c.*424A>G
|
rs574355137
|
0.00037
|
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=)
|
rs138251296
|
0.00037
|
NM_000088.4(COL1A1):c.*1087C>T
|
rs557843360
|
0.00036
|
NM_000090.4(COL3A1):c.*467T>A
|
rs886055341
|
0.00036
|
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
|
rs140952583
|
0.00036
|
NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn)
|
rs373777402
|
0.00036
|
NM_014244.5(ADAMTS2):c.*2397G>A
|
rs117141618
|
0.00036
|
NM_018699.4(PRDM5):c.1189-14T>C
|
rs375296023
|
0.00036
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
NM_014244.5(ADAMTS2):c.*2595C>T
|
rs188054405
|
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_000088.4(COL1A1):c.*631G>A
|
rs569577942
|
0.00033
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
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_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr)
|
rs201540905
|
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.3591C>T (p.Asp1197=)
|
rs370349155
|
0.00031
|
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)
|
rs142114921
|
0.00031
|
NM_000393.5(COL5A2):c.98-13T>A
|
rs376487446
|
0.00031
|
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=)
|
rs371897217
|
0.00031
|
NM_000088.4(COL1A1):c.1768-8C>T
|
rs193922142
|
0.00030
|
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp)
|
rs149124387
|
0.00030
|
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)
|
rs141661592
|
0.00030
|
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His)
|
rs142515463
|
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.1923+8T>C
|
rs191193125
|
0.00029
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg)
|
rs559625962
|
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.3474+7C>T
|
rs550497696
|
0.00028
|
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu)
|
rs562264117
|
0.00028
|
NM_018699.4(PRDM5):c.1031-15T>C
|
rs201474353
|
0.00028
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)
|
rs142544320
|
0.00026
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_014244.5(ADAMTS2):c.*1797C>T
|
rs553329835
|
0.00026
|
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)
|
rs372103269
|
0.00026
|
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)
|
rs150670521
|
0.00025
|
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser)
|
rs370608825
|
0.00024
|
NM_000089.4(COL1A2):c.892-13C>G
|
rs200532328
|
0.00024
|
NM_000090.4(COL3A1):c.*622T>C
|
rs572369155
|
0.00024
|
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met)
|
rs367796431
|
0.00024
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_000093.5(COL5A1):c.*145G>A
|
rs181323324
|
0.00023
|
NM_018699.4(PRDM5):c.-61G>C
|
rs556802821
|
0.00023
|
NM_000093.5(COL5A1):c.-139G>T
|
rs886063672
|
0.00022
|
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)
|
rs557361751
|
0.00022
|
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)
|
rs273585633
|
0.00022
|
NM_014244.5(ADAMTS2):c.*2302C>T
|
rs564480935
|
0.00022
|
NM_014244.5(ADAMTS2):c.*2440G>A
|
rs546192004
|
0.00022
|
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)
|
rs200210415
|
0.00022
|
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys)
|
rs201325904
|
0.00022
|
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)
|
rs1800211
|
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_000393.4(COL5A2):c.-176T>A
|
rs570350400
|
0.00021
|
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)
|
rs568197988
|
0.00021
|
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala)
|
rs201390756
|
0.00021
|
NM_000088.4(COL1A1):c.957+10C>A
|
rs376179885
|
0.00020
|
NM_001367624.2(ZNF469):c.*617C>T
|
rs886052422
|
0.00020
|
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg)
|
rs557636016
|
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.*2294A>T
|
rs571153134
|
0.00019
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)
|
rs763409574
|
0.00019
|
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met)
|
rs748526375
|
0.00019
|
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=)
|
rs199664723
|
0.00019
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=)
|
rs148229627
|
0.00018
|
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)
|
rs201215425
|
0.00018
|
NM_000088.4(COL1A1):c.*120T>C
|
rs773014749
|
0.00017
|
NM_000088.4(COL1A1):c.3815-12G>T
|
rs201066018
|
0.00017
|
NM_000302.4(PLOD1):c.579+10A>G
|
rs538255620
|
0.00017
|
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)
|
rs79606317
|
0.00017
|
NM_000088.4(COL1A1):c.*202A>G
|
rs564917505
|
0.00016
|
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)
|
rs375914028
|
0.00016
|
NM_000088.4(COL1A1):c.1615-14C>T
|
rs190098788
|
0.00016
|
NM_000089.3(COL1A2):c.-428G>A
|
rs753974789
|
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.*1734G>A
|
rs886063688
|
0.00016
|
NM_000093.5(COL5A1):c.*1845A>G
|
rs553877631
|
0.00016
|
NM_000093.5(COL5A1):c.*1848C>G
|
rs886063692
|
0.00016
|
NM_000093.5(COL5A1):c.*2175G>A
|
rs781775180
|
0.00016
|
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)
|
rs368551709
|
0.00016
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
NM_000393.5(COL5A2):c.263C>A (p.Pro88His)
|
rs149877855
|
0.00016
|
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser)
|
rs187453092
|
0.00016
|
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)
|
rs200982805
|
0.00016
|
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=)
|
rs139249329
|
0.00016
|
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val)
|
rs147924545
|
0.00015
|
NM_000302.4(PLOD1):c.897G>A (p.Pro299=)
|
rs199946373
|
0.00015
|
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu)
|
rs552311966
|
0.00015
|
NM_014244.5(ADAMTS2):c.*2064A>G
|
rs759155545
|
0.00015
|
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_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)
|
rs201167346
|
0.00014
|
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=)
|
rs776387246
|
0.00013
|
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)
|
rs767525556
|
0.00013
|
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_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)
|
rs748345448
|
0.00013
|
NM_000302.4(PLOD1):c.303C>T (p.Ser101=)
|
rs147980436
|
0.00013
|
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met)
|
rs151127652
|
0.00013
|
NM_001367624.2(ZNF469):c.4892G>A (p.Gly1631Glu)
|
rs755244502
|
0.00013
|
NM_001367624.2(ZNF469):c.7497G>A (p.Pro2499=)
|
rs768288160
|
0.00013
|
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys)
|
rs578166707
|
0.00013
|
NM_014244.5(ADAMTS2):c.*222C>T
|
rs886060488
|
0.00013
|
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys)
|
rs17667857
|
0.00013
|
NM_000089.4(COL1A2):c.*545A>G
|
rs761806166
|
0.00012
|
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_000302.4(PLOD1):c.1182G>C (p.Arg394=)
|
rs144439284
|
0.00012
|
NM_001367624.2(ZNF469):c.*218G>A
|
rs137889724
|
0.00012
|
NM_001367624.2(ZNF469):c.*285C>T
|
rs35994806
|
0.00012
|
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr)
|
rs766878740
|
0.00012
|
NM_014244.5(ADAMTS2):c.*2420A>G
|
rs376369089
|
0.00012
|
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=)
|
rs369654932
|
0.00012
|
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=)
|
rs780314895
|
0.00012
|
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr)
|
rs376820857
|
0.00012
|
NM_000088.4(COL1A1):c.2613+13C>T
|
rs368380161
|
0.00011
|
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp)
|
rs151171179
|
0.00011
|
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)
|
rs202068380
|
0.00011
|
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu)
|
rs150543864
|
0.00011
|
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu)
|
rs373838193
|
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.2493C>T (p.Ile831=)
|
rs199630108
|
0.00011
|
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)
|
rs147398633
|
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.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000393.5(COL5A2):c.1977+12T>G
|
rs202204374
|
0.00011
|
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)
|
rs201486858
|
0.00011
|
NM_001367624.2(ZNF469):c.*216G>A
|
rs146964491
|
0.00011
|
NM_001367624.2(ZNF469):c.10740C>T (p.Asn3580=)
|
rs527707590
|
0.00011
|
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu)
|
rs754458926
|
0.00011
|
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys)
|
rs757657013
|
0.00011
|
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)
|
rs529250336
|
0.00011
|
NM_001367624.2(ZNF469):c.951C>T (p.Ala317=)
|
rs561239255
|
0.00011
|
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys)
|
rs371099308
|
0.00011
|
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=)
|
rs150535792
|
0.00011
|
NM_014244.5(ADAMTS2):c.562G>C (p.Glu188Gln)
|
rs146064587
|
0.00011
|
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala)
|
rs202197821
|
0.00011
|
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe)
|
rs199602365
|
0.00011
|
NM_000088.4(COL1A1):c.*1384_*1387del
|
rs886053139
|
0.00010
|
NM_000088.4(COL1A1):c.*502C>T
|
rs1004356084
|
0.00010
|
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=)
|
rs148362963
|
0.00010
|
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=)
|
rs375673185
|
0.00010
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=)
|
rs576332528
|
0.00010
|
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)
|
rs148006741
|
0.00010
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
NM_000393.5(COL5A2):c.403-3T>C
|
rs369733690
|
0.00010
|
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=)
|
rs569036398
|
0.00010
|
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu)
|
rs886052413
|
0.00010
|
NM_014244.5(ADAMTS2):c.*2147C>T
|
rs886060484
|
0.00010
|
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)
|
rs147259971
|
0.00010
|
NM_018699.4(PRDM5):c.*154A>T
|
rs181244989
|
0.00010
|
NM_000088.4(COL1A1):c.*342C>A
|
rs1253268385
|
0.00009
|
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)
|
rs138557594
|
0.00009
|
NM_000090.4(COL3A1):c.-101G>A
|
rs41265577
|
0.00009
|
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn)
|
rs147663769
|
0.00009
|
NM_000093.5(COL5A1):c.*1887G>A
|
rs886063693
|
0.00009
|
NM_000093.5(COL5A1):c.*2410C>G
|
rs886063694
|
0.00009
|
NM_000093.5(COL5A1):c.*608G>A
|
rs537858864
|
0.00009
|
NM_000093.5(COL5A1):c.*68C>T
|
rs886063679
|
0.00009
|
NM_000093.5(COL5A1):c.2331+15C>T
|
rs369093559
|
0.00009
|
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)
|
rs199735010
|
0.00009
|
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=)
|
rs764683617
|
0.00009
|
NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu)
|
rs368305377
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000302.4(PLOD1):c.*721T>G
|
rs142707437
|
0.00009
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=)
|
rs201999965
|
0.00009
|
NM_000393.5(COL5A2):c.*126A>G
|
rs755412373
|
0.00009
|
NM_001367624.2(ZNF469):c.*492G>A
|
rs190108769
|
0.00009
|
NM_001367624.2(ZNF469):c.5145G>A (p.Arg1715=)
|
rs577775261
|
0.00009
|
NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=)
|
rs533072680
|
0.00009
|
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=)
|
rs147796327
|
0.00009
|
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)
|
rs369699409
|
0.00008
|
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)
|
rs575285203
|
0.00008
|
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)
|
rs773985005
|
0.00008
|
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met)
|
rs201220311
|
0.00008
|
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=)
|
rs767372665
|
0.00008
|
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)
|
rs760946138
|
0.00008
|
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu)
|
rs769853271
|
0.00008
|
NM_001367624.2(ZNF469):c.609C>A (p.Pro203=)
|
rs886052390
|
0.00008
|
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser)
|
rs759032227
|
0.00008
|
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg)
|
rs886052412
|
0.00008
|
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln)
|
rs764531239
|
0.00008
|
NM_001367624.2(ZNF469):c.942G>A (p.Pro314=)
|
rs767588443
|
0.00008
|
NM_000089.4(COL1A2):c.*131G>T
|
rs777448399
|
0.00007
|
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser)
|
rs199732595
|
0.00007
|
NM_000089.4(COL1A2):c.2025+9A>G
|
rs368837694
|
0.00007
|
NM_000090.4(COL3A1):c.*72A>G
|
rs928894236
|
0.00007
|
NM_000093.5(COL5A1):c.-4C>G
|
rs769694875
|
0.00007
|
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=)
|
rs758336822
|
0.00007
|
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=)
|
rs564398230
|
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_000393.5(COL5A2):c.*1961T>C
|
rs886055346
|
0.00007
|
NM_000393.5(COL5A2):c.*401A>C
|
rs886055352
|
0.00007
|
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)
|
rs527433112
|
0.00007
|
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro)
|
rs370402083
|
0.00007
|
NM_001367624.2(ZNF469):c.6075G>A (p.Ala2025=)
|
rs373300146
|
0.00007
|
NM_001367624.2(ZNF469):c.9894C>T (p.Asp3298=)
|
rs551298094
|
0.00007
|
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)
|
rs188566209
|
0.00007
|
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=)
|
rs769689633
|
0.00007
|
NM_000088.4(COL1A1):c.*21G>C
|
rs201085309
|
0.00006
|
NM_000088.4(COL1A1):c.*714C>T
|
rs567392981
|
0.00006
|
NM_000088.4(COL1A1):c.1155+12C>T
|
rs774034198
|
0.00006
|
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn)
|
rs372215246
|
0.00006
|
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr)
|
rs150803124
|
0.00006
|
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr)
|
rs769571473
|
0.00006
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000088.4(COL1A1):c.528C>T (p.Ser176=)
|
rs748856187
|
0.00006
|
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu)
|
rs763409550
|
0.00006
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr)
|
rs201746779
|
0.00006
|
NM_000089.4(COL1A2):c.671G>A (p.Arg224His)
|
rs771139732
|
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.3231A>G (p.Glu1077=)
|
rs376248130
|
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.761C>T (p.Ser254Leu)
|
rs144844792
|
0.00006
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
NM_000302.4(PLOD1):c.*128A>G
|
rs927504122
|
0.00006
|
NM_000302.4(PLOD1):c.*528G>A
|
rs886045215
|
0.00006
|
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser)
|
rs149737825
|
0.00006
|
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu)
|
rs772448543
|
0.00006
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
NM_000393.5(COL5A2):c.4114-11T>C
|
rs587780908
|
0.00006
|
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln)
|
rs775672255
|
0.00006
|
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn)
|
rs749179728
|
0.00006
|
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr)
|
rs545662898
|
0.00006
|
NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=)
|
rs866760637
|
0.00006
|
NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=)
|
rs762487170
|
0.00006
|
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys)
|
rs762301873
|
0.00006
|
NM_014244.5(ADAMTS2):c.*550G>A
|
rs753995152
|
0.00006
|
NM_014244.5(ADAMTS2):c.638G>A (p.Arg213His)
|
rs369215593
|
0.00006
|
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter)
|
rs137853146
|
0.00006
|
NM_018699.4(PRDM5):c.*176T>C
|
rs558671397
|
0.00006
|
NM_000088.4(COL1A1):c.*1151C>T
|
rs536196631
|
0.00005
|
NM_000088.4(COL1A1):c.*1205C>G
|
rs551536386
|
0.00005
|
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp)
|
rs151256720
|
0.00005
|
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)
|
rs926855674
|
0.00005
|
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.3369C>T (p.Gly1123=)
|
rs546229885
|
0.00005
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=)
|
rs370774253
|
0.00005
|
NM_000393.5(COL5A2):c.3201+14C>T
|
rs368713290
|
0.00005
|
NM_001367624.2(ZNF469):c.11052G>A (p.Ser3684=)
|
rs780722176
|
0.00005
|
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu)
|
rs752770883
|
0.00005
|
NM_014244.5(ADAMTS2):c.1349G>A (p.Arg450His)
|
rs752634323
|
0.00005
|
NM_014244.5(ADAMTS2):c.3367C>T (p.Leu1123Phe)
|
rs201343773
|
0.00005
|
NM_018699.4(PRDM5):c.1623+8T>C
|
rs201965676
|
0.00005
|
NM_000088.4(COL1A1):c.*285C>A
|
rs990020766
|
0.00004
|
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)
|
rs372029024
|
0.00004
|
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)
|
rs781491172
|
0.00004
|
NM_000088.4(COL1A1):c.3630C>T (p.His1210=)
|
rs745320719
|
0.00004
|
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)
|
rs371904584
|
0.00004
|
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr)
|
rs755610740
|
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_000093.5(COL5A1):c.*1788G>A
|
rs886063690
|
0.00004
|
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser)
|
rs150837465
|
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.4818C>T (p.Asp1606=)
|
rs190912679
|
0.00004
|
NM_000302.3(PLOD1):c.-64C>G
|
rs886045195
|
0.00004
|
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln)
|
rs750100311
|
0.00004
|
NM_000302.4(PLOD1):c.1584+10G>A
|
rs756917169
|
0.00004
|
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys)
|
rs576416937
|
0.00004
|
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser)
|
rs772861343
|
0.00004
|
NM_000302.4(PLOD1):c.614G>A (p.Arg205His)
|
rs536503346
|
0.00004
|
NM_000393.5(COL5A2):c.*211T>A
|
rs776264833
|
0.00004
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)
|
rs540573303
|
0.00004
|
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys)
|
rs762894872
|
0.00004
|
NM_001367624.2(ZNF469):c.1719C>T (p.His573=)
|
rs552893295
|
0.00004
|
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser)
|
rs557351664
|
0.00004
|
NM_001367624.2(ZNF469):c.6846C>T (p.Ala2282=)
|
rs748097865
|
0.00004
|
NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys)
|
rs540443650
|
0.00004
|
NM_001367624.2(ZNF469):c.81G>A (p.Pro27=)
|
rs534464702
|
0.00004
|
NM_014244.5(ADAMTS2):c.*2035G>A
|
rs1022911243
|
0.00004
|
NM_014244.5(ADAMTS2):c.*2511C>A
|
rs1265598763
|
0.00004
|
NM_014244.5(ADAMTS2):c.*985C>T
|
rs187198149
|
0.00004
|
NM_014244.5(ADAMTS2):c.1031G>A (p.Arg344His)
|
rs201162234
|
0.00004
|
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=)
|
rs752737484
|
0.00004
|
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=)
|
rs372661052
|
0.00004
|
NM_014244.5(ADAMTS2):c.2751-15G>A
|
rs376602983
|
0.00004
|
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=)
|
rs753246905
|
0.00004
|
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg)
|
rs376856341
|
0.00004
|
NM_014244.5(ADAMTS2):c.859G>A (p.Val287Ile)
|
rs148737005
|
0.00004
|
NM_000088.4(COL1A1):c.*1265C>T
|
rs567249120
|
0.00003
|
NM_000088.4(COL1A1):c.*682C>T
|
rs77720683
|
0.00003
|
NM_000088.4(COL1A1):c.*733G>A
|
rs886053148
|
0.00003
|
NM_000088.4(COL1A1):c.*795C>T
|
rs886053147
|
0.00003
|
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)
|
rs765154255
|
0.00003
|
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys)
|
rs775106436
|
0.00003
|
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys)
|
rs753683126
|
0.00003
|
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)
|
rs756297543
|
0.00003
|
NM_000089.4(COL1A2):c.*584A>T
|
rs1469558350
|
0.00003
|
NM_000089.4(COL1A2):c.*601A>G
|
rs1031022615
|
0.00003
|
NM_000089.4(COL1A2):c.1870C>G (p.Pro624Ala)
|
rs886062517
|
0.00003
|
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His)
|
rs200357942
|
0.00003
|
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala)
|
rs761465504
|
0.00003
|
NM_000090.4(COL3A1):c.*406A>G
|
rs770571552
|
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_000090.4(COL3A1):c.3576C>T (p.Ala1192=)
|
rs574331101
|
0.00003
|
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg)
|
rs778419091
|
0.00003
|
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala)
|
rs535363331
|
0.00003
|
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr)
|
rs575535171
|
0.00003
|
NM_000093.5(COL5A1):c.2386-6G>A
|
rs373383768
|
0.00003
|
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr)
|
rs759464073
|
0.00003
|
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)
|
rs769115550
|
0.00003
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
NM_000302.4(PLOD1):c.*148C>G
|
rs886045211
|
0.00003
|
NM_000302.4(PLOD1):c.-39G>T
|
rs769995450
|
0.00003
|
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu)
|
rs775321665
|
0.00003
|
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)
|
rs372579008
|
0.00003
|
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys)
|
rs146092290
|
0.00003
|
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu)
|
rs557317492
|
0.00003
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val)
|
rs554232128
|
0.00003
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu)
|
rs753383064
|
0.00003
|
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile)
|
rs762653511
|
0.00003
|
NM_001365276.2(TNXB):c.7546G>A (p.Ala2516Thr)
|
rs1478498254
|
0.00003
|
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg)
|
rs886052421
|
0.00003
|
NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=)
|
rs886052392
|
0.00003
|
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr)
|
rs886052393
|
0.00003
|
NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu)
|
rs768864900
|
0.00003
|
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=)
|
rs574024256
|
0.00003
|
NM_001367624.2(ZNF469):c.9784G>T (p.Ala3262Ser)
|
rs886052418
|
0.00003
|
NM_014244.5(ADAMTS2):c.*2270C>T
|
rs886060483
|
0.00003
|
NM_014244.5(ADAMTS2):c.*2589T>G
|
rs886060482
|
0.00003
|
NM_014244.5(ADAMTS2):c.*2724A>G
|
rs886060481
|
0.00003
|
NM_014244.5(ADAMTS2):c.*843G>A
|
rs778909760
|
0.00003
|
NM_018699.4(PRDM5):c.650+5G>A
|
rs754469516
|
0.00003
|
NM_000088.4(COL1A1):c.*251dup
|
rs886053154
|
0.00002
|
NM_000088.4(COL1A1):c.*93A>G
|
rs367971695
|
0.00002
|
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)
|
rs543735501
|
0.00002
|
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser)
|
rs756337302
|
0.00002
|
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)
|
rs757759451
|
0.00002
|
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn)
|
rs754149044
|
0.00002
|
NM_000090.4(COL3A1):c.*89G>A
|
rs886055335
|
0.00002
|
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=)
|
rs41264441
|
0.00002
|
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=)
|
rs766750333
|
0.00002
|
NM_000090.4(COL3A1):c.432C>T (p.Cys144=)
|
rs539430522
|
0.00002
|
NM_000093.5(COL5A1):c.*1787G>A
|
rs886063689
|
0.00002
|
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=)
|
rs148094039
|
0.00002
|
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser)
|
rs766839110
|
0.00002
|
NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=)
|
rs748000980
|
0.00002
|
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe)
|
rs762625123
|
0.00002
|
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=)
|
rs745918663
|
0.00002
|
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile)
|
rs863223460
|
0.00002
|
NM_000093.5(COL5A1):c.4955-13C>T
|
rs770897242
|
0.00002
|
NM_000302.4(PLOD1):c.1902+9G>T
|
rs200395169
|
0.00002
|
NM_000302.4(PLOD1):c.302+5G>A
|
rs749607584
|
0.00002
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
NM_000302.4(PLOD1):c.844-6G>T
|
rs767068264
|
0.00002
|
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser)
|
rs372904150
|
0.00002
|
NM_000393.5(COL5A2):c.2661+13G>T
|
rs534626192
|
0.00002
|
NM_000393.5(COL5A2):c.3040-8T>C
|
rs886055355
|
0.00002
|
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser)
|
rs773168254
|
0.00002
|
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)
|
rs377049803
|
0.00002
|
NM_000393.5(COL5A2):c.906+10A>T
|
rs776578452
|
0.00002
|
NM_001367624.2(ZNF469):c.*499A>G
|
rs537339757
|
0.00002
|
NM_001367624.2(ZNF469):c.*792A>G
|
rs886052424
|
0.00002
|
NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=)
|
rs768501538
|
0.00002
|
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)
|
rs781096189
|
0.00002
|
NM_001367624.2(ZNF469):c.5010C>A (p.Ala1670=)
|
rs766852564
|
0.00002
|
NM_001367624.2(ZNF469):c.9705G>A (p.Ala3235=)
|
rs757816736
|
0.00002
|
NM_014244.5(ADAMTS2):c.*1411G>A
|
rs1222087934
|
0.00002
|
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=)
|
rs150587776
|
0.00002
|
NM_014244.5(ADAMTS2):c.2903G>A (p.Arg968Gln)
|
rs777490675
|
0.00002
|
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=)
|
rs886060490
|
0.00002
|
NM_000088.4(COL1A1):c.*194G>A
|
rs886053158
|
0.00001
|
NM_000088.4(COL1A1):c.*837G>A
|
rs564977858
|
0.00001
|
NM_000088.4(COL1A1):c.-115G>A
|
rs886053164
|
0.00001
|
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.1492G>A (p.Ala498Thr)
|
rs1051473344
|
0.00001
|
NM_000088.4(COL1A1):c.1669-10C>A
|
rs886053162
|
0.00001
|
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=)
|
rs746453576
|
0.00001
|
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)
|
rs372044347
|
0.00001
|
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)
|
rs746671446
|
0.00001
|
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)
|
rs199514372
|
0.00001
|
NM_000088.4(COL1A1):c.3815-10C>T
|
rs770568983
|
0.00001
|
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)
|
rs763025405
|
0.00001
|
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile)
|
rs367952133
|
0.00001
|
NM_000089.3(COL1A2):c.-188C>T
|
rs886062512
|
0.00001
|
NM_000089.4(COL1A2):c.*193C>T
|
rs1025438678
|
0.00001
|
NM_000089.4(COL1A2):c.*465G>T
|
rs937283468
|
0.00001
|
NM_000089.4(COL1A2):c.*814A>G
|
rs1584334060
|
0.00001
|
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=)
|
rs748961276
|
0.00001
|
NM_000089.4(COL1A2):c.1611+9T>A
|
rs200333208
|
0.00001
|
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=)
|
rs1394933873
|
0.00001
|
NM_000089.4(COL1A2):c.1971+5G>A
|
rs375027186
|
0.00001
|
NM_000089.4(COL1A2):c.279+12T>C
|
rs751199493
|
0.00001
|
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)
|
rs538844573
|
0.00001
|
NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=)
|
rs1792349319
|
0.00001
|
NM_000089.4(COL1A2):c.384T>A (p.Pro128=)
|
rs767043956
|
0.00001
|
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro)
|
rs757449082
|
0.00001
|
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=)
|
rs781599112
|
0.00001
|
NM_000089.4(COL1A2):c.693+12C>A
|
rs767990110
|
0.00001
|
NM_000089.4(COL1A2):c.81+8A>C
|
rs765118884
|
0.00001
|
NM_000090.4(COL3A1):c.*643G>A
|
rs1688748242
|
0.00001
|
NM_000090.4(COL3A1):c.*740A>T
|
rs1005052846
|
0.00001
|
NM_000090.4(COL3A1):c.*818T>C
|
rs886055344
|
0.00001
|
NM_000090.4(COL3A1):c.1509+7A>C
|
rs201740954
|
0.00001
|
NM_000090.4(COL3A1):c.183C>T (p.Leu61=)
|
rs753474870
|
0.00001
|
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr)
|
rs1296092212
|
0.00001
|
NM_000090.4(COL3A1):c.267A>G (p.Pro89=)
|
rs998965783
|
0.00001
|
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu)
|
rs780260944
|
0.00001
|
NM_000090.4(COL3A1):c.3298C>T (p.Arg1100Cys)
|
rs755321924
|
0.00001
|
NM_000090.4(COL3A1):c.333+15T>C
|
rs764678861
|
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.*589G>A
|
rs886063682
|
0.00001
|
NM_000093.5(COL5A1):c.*596A>G
|
rs775044518
|
0.00001
|
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)
|
rs561440698
|
0.00001
|
NM_000093.5(COL5A1):c.1332+4dup
|
rs886063674
|
0.00001
|
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu)
|
rs201875250
|
0.00001
|
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=)
|
rs756096066
|
0.00001
|
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=)
|
rs886063677
|
0.00001
|
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr)
|
rs776748227
|
0.00001
|
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=)
|
rs886063678
|
0.00001
|
NM_000302.4(PLOD1):c.-58G>A
|
rs552712043
|
0.00001
|
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His)
|
rs199567720
|
0.00001
|
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=)
|
rs142934642
|
0.00001
|
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg)
|
rs1221992885
|
0.00001
|
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=)
|
rs140513387
|
0.00001
|
NM_000302.4(PLOD1):c.742-9C>G
|
rs771746998
|
0.00001
|
NM_000302.4(PLOD1):c.948A>G (p.Lys316=)
|
rs746354303
|
0.00001
|
NM_000393.5(COL5A2):c.*1460A>T
|
rs886055349
|
0.00001
|
NM_000393.5(COL5A2):c.*1970T>G
|
rs548360577
|
0.00001
|
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu)
|
rs575864379
|
0.00001
|
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=)
|
rs201299226
|
0.00001
|
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=)
|
rs756259584
|
0.00001
|
NM_000393.5(COL5A2):c.302G>A (p.Gly101Glu)
|
rs777070552
|
0.00001
|
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys)
|
rs539362640
|
0.00001
|
NM_000393.5(COL5A2):c.3363+2T>C
|
rs1559076442
|
0.00001
|
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys)
|
rs886055354
|
0.00001
|
NM_000393.5(COL5A2):c.3633+12A>G
|
rs886055353
|
0.00001
|
NM_000393.5(COL5A2):c.3633+14G>T
|
rs776087725
|
0.00001
|
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met)
|
rs762902468
|
0.00001
|
NM_000393.5(COL5A2):c.799-7C>A
|
rs879227018
|
0.00001
|
NM_001367624.2(ZNF469):c.*649C>G
|
rs561472955
|
0.00001
|
NM_001367624.2(ZNF469):c.*664C>T
|
rs886052423
|
0.00001
|
NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn)
|
rs568820656
|
0.00001
|
NM_001367624.2(ZNF469):c.1547G>C (p.Gly516Ala)
|
rs753160761
|
0.00001
|
NM_001367624.2(ZNF469):c.2361C>G (p.His787Gln)
|
rs886052395
|
0.00001
|
NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=)
|
rs767431034
|
0.00001
|
NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=)
|
rs886052398
|
0.00001
|
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser)
|
rs886052399
|
0.00001
|
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=)
|
rs756703220
|
0.00001
|
NM_001367624.2(ZNF469):c.3485G>T (p.Arg1162Leu)
|
rs886052402
|
0.00001
|
NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly)
|
rs886052389
|
0.00001
|
NM_001367624.2(ZNF469):c.6480C>T (p.Pro2160=)
|
rs370190101
|
0.00001
|
NM_001367624.2(ZNF469):c.6665T>C (p.Leu2222Pro)
|
rs78213929
|
0.00001
|
NM_001367624.2(ZNF469):c.7111G>A (p.Gly2371Arg)
|
rs886052408
|
0.00001
|
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys)
|
rs886052409
|
0.00001
|
NM_001367624.2(ZNF469):c.7720C>T (p.His2574Tyr)
|
rs886052410
|
0.00001
|
NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=)
|
rs766581620
|
0.00001
|
NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=)
|
rs886052416
|
0.00001
|
NM_001367624.2(ZNF469):c.9279G>T (p.Glu3093Asp)
|
rs886052417
|
0.00001
|
NM_014244.5(ADAMTS2):c.*174G>A
|
rs1057408727
|
0.00001
|
NM_014244.5(ADAMTS2):c.*1777T>C
|
rs1351159498
|
0.00001
|
NM_014244.5(ADAMTS2):c.*1941C>T
|
rs886060485
|
0.00001
|
NM_014244.5(ADAMTS2):c.*518G>T
|
rs1762600191
|
0.00001
|
NM_014244.5(ADAMTS2):c.*615T>C
|
rs1762599095
|
0.00001
|
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn)
|
rs763890617
|
0.00001
|
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=)
|
rs374288519
|
0.00001
|
NM_014244.5(ADAMTS2):c.2290+15C>T
|
rs764259203
|
0.00001
|
NM_014244.5(ADAMTS2):c.2594C>T (p.Pro865Leu)
|
rs372549560
|
0.00001
|
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=)
|
rs370747086
|
0.00001
|
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=)
|
rs151261888
|
0.00001
|
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=)
|
rs557019144
|
0.00001
|
NM_014244.5(ADAMTS2):c.2914C>T (p.Arg972Cys)
|
rs867846785
|
0.00001
|
NM_014244.5(ADAMTS2):c.2958+14C>T
|
rs755961602
|
0.00001
|
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser)
|
rs142429109
|
0.00001
|
NM_014244.5(ADAMTS2):c.3089-7C>A
|
rs760424301
|
0.00001
|
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=)
|
rs777279065
|
0.00001
|
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val)
|
rs756807336
|
0.00001
|
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=)
|
rs886060495
|
0.00001
|
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=)
|
rs751895494
|
0.00001
|
NM_018699.3(PRDM5):c.-133T>C
|
rs886059046
|
0.00001
|
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg)
|
rs371617787
|
0.00001
|
NM_018699.4(PRDM5):c.650+7A>G
|
rs751182540
|
0.00001
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
NM_000088.4(COL1A1):c.*1007_*1008del
|
rs886053144
|
|
NM_000088.4(COL1A1):c.*1026TG[1]
|
rs878983048
|
|
NM_000088.4(COL1A1):c.*1026_*1028del
|
rs751268781
|
|
NM_000088.4(COL1A1):c.*1027G>T
|
rs200882287
|
|
NM_000088.4(COL1A1):c.*1027del
|
rs878912123
|
|
NM_000088.4(COL1A1):c.*1029_*1031del
|
rs886053143
|
|
NM_000088.4(COL1A1):c.*1030_*1031del
|
rs886053142
|
|
NM_000088.4(COL1A1):c.*1045del
|
rs886053141
|
|
NM_000088.4(COL1A1):c.*1316C>G
|
rs967567610
|
|
NM_000088.4(COL1A1):c.*1324A>G
|
rs886053140
|
|
NM_000088.4(COL1A1):c.*215del
|
rs886053157
|
|
NM_000088.4(COL1A1):c.*242_*244dup
|
rs56302025
|
|
NM_000088.4(COL1A1):c.*243_*244dup
|
rs56302025
|
|
NM_000088.4(COL1A1):c.*245_*246dup
|
rs886053155
|
|
NM_000088.4(COL1A1):c.*245del
|
rs886053156
|
|
NM_000088.4(COL1A1):c.*255dup
|
rs886053153
|
|
NM_000088.4(COL1A1):c.*257_*258dup
|
rs886053152
|
|
NM_000088.4(COL1A1):c.*258dup
|
rs886053152
|
|
NM_000088.4(COL1A1):c.*259_*260insAT
|
rs886053151
|
|
NM_000088.4(COL1A1):c.*356T>A
|
rs1906365029
|
|
NM_000088.4(COL1A1):c.*437A>C
|
rs886053150
|
|
NM_000088.4(COL1A1):c.*623G>A
|
rs886053149
|
|
NM_000088.4(COL1A1):c.*681_*682insAGCA
|
rs3840870
|
|
NM_000088.4(COL1A1):c.*73C>A
|
rs1906402899
|
|
NM_000088.4(COL1A1):c.*815A>G
|
rs886053146
|
|
NM_000088.4(COL1A1):c.*88T>A
|
rs1061237
|
|
NM_000088.4(COL1A1):c.*88T>C
|
rs1061237
|
|
NM_000088.4(COL1A1):c.*998_*999del
|
rs886053145
|
|
NM_000088.4(COL1A1):c.-78_-77delinsAA
|
rs886053163
|
|
NM_000088.4(COL1A1):c.-98G>A
|
rs574683904
|
|
NM_000088.4(COL1A1):c.-98G>C
|
rs574683904
|
|
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=)
|
rs762086114
|
|
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly)
|
rs886053161
|
|
NM_000088.4(COL1A1):c.1983+9G>T
|
rs201091992
|
|
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)
|
rs561374961
|
|
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)
|
rs1423591325
|
|
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)
|
rs775095655
|
|
NM_000088.4(COL1A1):c.3099+7T>G
|
rs201682029
|
|
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=)
|
rs886053160
|
|
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His)
|
rs886053159
|
|
NM_000088.4(COL1A1):c.804+15A>C
|
rs148110802
|
|
NM_000088.4(COL1A1):c.957+15C>T
|
rs779096006
|
|
NM_000089.3(COL1A2):c.-150G>C
|
rs1584310114
|
|
NM_000089.3(COL1A2):c.-152G>A
|
rs769123288
|
|
NM_000089.3(COL1A2):c.-194C>T
|
rs1180929889
|
|
NM_000089.3(COL1A2):c.-204T>G
|
rs908653050
|
|
NM_000089.3(COL1A2):c.-264C>A
|
rs182924222
|
|
NM_000089.3(COL1A2):c.-365A>G
|
rs886062511
|
|
NM_000089.3(COL1A2):c.-397A>T
|
rs1791544304
|
|
NM_000089.3(COL1A2):c.-418G>A
|
rs939882798
|
|
NM_000089.4(COL1A2):c.*329A>G
|
rs1235561698
|
|
NM_000089.4(COL1A2):c.*469A>G
|
rs1792387263
|
|
NM_000089.4(COL1A2):c.*561T>C
|
rs1792389230
|
|
NM_000089.4(COL1A2):c.*618T>C
|
rs557107553
|
|
NM_000089.4(COL1A2):c.*638C>T
|
rs1792391514
|
|
NM_000089.4(COL1A2):c.*654_*655insGTTGTCC
|
rs3917
|
|
NM_000089.4(COL1A2):c.-87C>T
|
rs886062513
|
|
NM_000089.4(COL1A2):c.1036-14G>T
|
rs114322680
|
|
NM_000089.4(COL1A2):c.114A>G (p.Arg38=)
|
rs1462108134
|
|
NM_000089.4(COL1A2):c.1186C>T (p.Pro396Ser)
|
rs886062515
|
|
NM_000089.4(COL1A2):c.1252-6del
|
rs886062516
|
|
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=)
|
rs412777
|
|
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=)
|
rs193229878
|
|
NM_000089.4(COL1A2):c.2187+14A>G
|
rs1792135004
|
|
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.2569C>T (p.Pro857Ser)
|
rs150179964
|
|
NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg)
|
rs1437648908
|
|
NM_000089.4(COL1A2):c.3106-11T>C
|
rs1792292305
|
|
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=)
|
rs1800248
|
|
NM_000089.4(COL1A2):c.3211C>A (p.Pro1071Thr)
|
rs886062518
|
|
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser)
|
rs763974489
|
|
NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=)
|
rs548761767
|
|
NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=)
|
rs1792333529
|
|
NM_000089.4(COL1A2):c.3809A>G (p.Tyr1270Cys)
|
rs886062519
|
|
NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe)
|
rs1725653924
|
|
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile)
|
rs886062514
|
|
NM_000089.4(COL1A2):c.71C>G (p.Ser24Cys)
|
rs763546006
|
|
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala)
|
rs1584318648
|
|
NM_000090.4(COL3A1):c.*113C>T
|
rs886055336
|
|
NM_000090.4(COL3A1):c.*317C>A
|
rs886055337
|
|
NM_000090.4(COL3A1):c.*325C>A
|
rs886055338
|
|
NM_000090.4(COL3A1):c.*354C>T
|
rs41265555
|
|
NM_000090.4(COL3A1):c.*370A>G
|
rs886055339
|
|
NM_000090.4(COL3A1):c.*371G>T
|
rs886055340
|
|
NM_000090.4(COL3A1):c.*413T>A
|
rs1027214857
|
|
NM_000090.4(COL3A1):c.*508T>C
|
rs1688745206
|
|
NM_000090.4(COL3A1):c.*600G>T
|
rs1688747004
|
|
NM_000090.4(COL3A1):c.*625C>T
|
rs886055342
|
|
NM_000090.4(COL3A1):c.*692G>A
|
rs886055343
|
|
NM_000090.4(COL3A1):c.*906C>G
|
rs1306575962
|
|
NM_000090.4(COL3A1):c.*947C>T
|
rs886055345
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
NM_000090.4(COL3A1):c.1334C>T (p.Pro445Leu)
|
rs1243746897
|
|
NM_000090.4(COL3A1):c.1348-4del
|
rs758567906
|
|
NM_000090.4(COL3A1):c.1348-4dup
|
rs758567906
|
|
NM_000090.4(COL3A1):c.1509+5A>G
|
rs572863064
|
|
NM_000090.4(COL3A1):c.1662+14T>A
|
rs910613076
|
|
NM_000090.4(COL3A1):c.1762-11T>G
|
rs761637298
|
|
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)
|
rs1801183
|
|
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser)
|
rs886055331
|
|
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=)
|
rs886055332
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=)
|
rs551541918
|
|
NM_000090.4(COL3A1):c.2714C>T (p.Pro905Leu)
|
rs886055333
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
NM_000090.4(COL3A1):c.2749C>T (p.Pro917Ser)
|
rs991559993
|
|
NM_000090.4(COL3A1):c.282+13A>T
|
rs754113375
|
|
NM_000090.4(COL3A1):c.3102T>G (p.Arg1034=)
|
rs1399453028
|
|
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=)
|
rs1576471851
|
|
NM_000090.4(COL3A1):c.3202-5C>T
|
rs1417576506
|
|
NM_000090.4(COL3A1):c.3525+3A>C
|
rs1553509674
|
|
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=)
|
rs560861999
|
|
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly)
|
rs376651720
|
|
NM_000090.4(COL3A1):c.4142A>G (p.Gln1381Arg)
|
rs886055334
|
|
NM_000090.4(COL3A1):c.529-5T>G
|
rs886055329
|
|
NM_000090.4(COL3A1):c.583-7T>C
|
rs886055330
|
|
NM_000093.5(COL5A1):c.*1047_*1049dup
|
rs886063686
|
|
NM_000093.5(COL5A1):c.*1086ATCT[1]
|
rs16399
|
|
NM_000093.5(COL5A1):c.*1653dup
|
rs541530510
|
|
NM_000093.5(COL5A1):c.*173C>T
|
rs886063680
|
|
NM_000093.5(COL5A1):c.*1807G>C
|
rs374715103
|
|
NM_000093.5(COL5A1):c.*1849ACAA[3]
|
rs886063691
|
|
NM_000093.5(COL5A1):c.*2252T>C
|
rs529530286
|
|
NM_000093.5(COL5A1):c.*235C>T
|
rs886063681
|
|
NM_000093.5(COL5A1):c.*700G>C
|
rs750272409
|
|
NM_000093.5(COL5A1):c.*727dup
|
rs1554727609
|
|
NM_000093.5(COL5A1):c.*733C>A
|
rs3196378
|
|
NM_000093.5(COL5A1):c.*865dup
|
rs57599653
|
|
NM_000093.5(COL5A1):c.*866_*867insTAG
|
rs886063684
|
|
NM_000093.5(COL5A1):c.*867_*868insATAGG
|
rs1554727637
|
|
NM_000093.5(COL5A1):c.*870_*873dup
|
rs10628678
|
|
NM_000093.5(COL5A1):c.*948C>G
|
rs142032213
|
|
NM_000093.5(COL5A1):c.-276AGG[7]
|
rs886063671
|
|
NM_000093.5(COL5A1):c.-287G>C
|
rs886063670
|
|
NM_000093.5(COL5A1):c.-357G>T
|
rs886063669
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
NM_000093.5(COL5A1):c.1830T>C (p.Gly610=)
|
rs886063675
|
|
NM_000093.5(COL5A1):c.1989G>C (p.Arg663Ser)
|
rs774093862
|
|
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=)
|
rs750169623
|
|
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=)
|
rs766961124
|
|
NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly)
|
rs886063673
|
|
NM_000093.5(COL5A1):c.3906+15G>C
|
rs370937109
|
|
NM_000093.5(COL5A1):c.431C>A (p.Thr144Lys)
|
rs561761305
|
|
NM_000093.5(COL5A1):c.432G>T (p.Thr144=)
|
rs528963362
|
|
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.514G>T (p.Val172Phe)
|
rs150147262
|
|
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)
|
rs1588615451
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.5371-12C>T
|
rs769740900
|
|
NM_000093.5(COL5A1):c.787-9C>T
|
rs751472921
|
|
NM_000302.4(PLOD1):c.*117A>G
|
rs886045210
|
|
NM_000302.4(PLOD1):c.*276T>C
|
rs886045212
|
|
NM_000302.4(PLOD1):c.*308C>G
|
rs886045213
|
|
NM_000302.4(PLOD1):c.*419C>T
|
rs886045214
|
|
NM_000302.4(PLOD1):c.*461G>T
|
rs1271843257
|
|
NM_000302.4(PLOD1):c.*61T>C
|
rs886045209
|
|
NM_000302.4(PLOD1):c.-61C>T
|
rs566803699
|
|
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe)
|
rs749210400
|
|
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg)
|
rs886045204
|
|
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=)
|
rs565216977
|
|
NM_000302.4(PLOD1):c.169-11T>C
|
rs760584840
|
|
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys)
|
rs771350321
|
|
NM_000302.4(PLOD1):c.1930del (p.Arg644fs)
|
rs1557501741
|
|
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln)
|
rs886045208
|
|
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp)
|
rs886045200
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val)
|
rs886045201
|
|
NM_000302.4(PLOD1):c.577A>C (p.Arg193=)
|
rs569590633
|
|
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter)
|
rs1557490038
|
|
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala)
|
rs777178486
|
|
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu)
|
rs1645756307
|
|
NM_000393.5(COL5A2):c.*1331C>G
|
rs146947961
|
|
NM_000393.5(COL5A2):c.*1465G>T
|
rs886055348
|
|
NM_000393.5(COL5A2):c.*1668C>G
|
rs772852972
|
|
NM_000393.5(COL5A2):c.*1764G>T
|
rs554165132
|
|
NM_000393.5(COL5A2):c.*1894C>A
|
rs886055347
|
|
NM_000393.5(COL5A2):c.*589_*590del
|
rs200554257
|
|
NM_000393.5(COL5A2):c.*590dup
|
rs200554257
|
|
NM_000393.5(COL5A2):c.*694TA[1]
|
rs886055351
|
|
NM_000393.5(COL5A2):c.*716A>G
|
rs886055350
|
|
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=)
|
rs886055357
|
|
NM_000393.5(COL5A2):c.2499+10A>G
|
rs886055356
|
|
NM_000393.5(COL5A2):c.2770-15del
|
rs577038385
|
|
NM_000393.5(COL5A2):c.532C>T (p.His178Tyr)
|
rs886055358
|
|
NM_000393.5(COL5A2):c.552C>T (p.Pro184=)
|
rs548352939
|
|
NM_000393.5(COL5A2):c.744+7G>A
|
rs774993105
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|
NM_001365276.2(TNXB):c.6320C>G (p.Ser2107Cys)
|
rs1554321787
|
|
NM_001367624.2(ZNF469):c.*1323G>A
|
rs780254370
|
|
NM_001367624.2(ZNF469):c.*1348G>A
|
rs886052428
|
|
NM_001367624.2(ZNF469):c.*491T>C
|
rs557906701
|
|
NM_001367624.2(ZNF469):c.*547G>T
|
rs370886541
|
|
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.*879T>C
|
rs886052426
|
|
NM_001367624.2(ZNF469):c.*932A>G
|
rs886052427
|
|
NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met)
|
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.10331G>T (p.Gly3444Val)
|
rs530393871
|
|
NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=)
|
rs763317477
|
|
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.11109G>T (p.Val3703=)
|
rs886052419
|
|
NM_001367624.2(ZNF469):c.11536C>G (p.Arg3846Gly)
|
rs886052420
|
|
NM_001367624.2(ZNF469):c.11822C>T (p.Thr3941Ile)
|
rs766057875
|
|
NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr)
|
rs886052388
|
|
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser)
|
rs755555951
|
|
NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=)
|
rs539996728
|
|
NM_001367624.2(ZNF469):c.1982A>G (p.Tyr661Cys)
|
rs886052394
|
|
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)
|
rs571184307
|
|
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val)
|
rs145186655
|
|
NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val)
|
rs550198026
|
|
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del)
|
rs775423936
|
|
NM_001367624.2(ZNF469):c.2929G>C (p.Gly977Arg)
|
rs770061832
|
|
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del)
|
rs886052397
|
|
NM_001367624.2(ZNF469):c.2986C>A (p.Arg996Ser)
|
rs886052400
|
|
NM_001367624.2(ZNF469):c.3255G>C (p.Glu1085Asp)
|
rs886052401
|
|
NM_001367624.2(ZNF469):c.3776G>A (p.Ser1259Asn)
|
rs886052403
|
|
NM_001367624.2(ZNF469):c.4195C>T (p.His1399Tyr)
|
rs886052404
|
|
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del)
|
rs555544144
|
|
NM_001367624.2(ZNF469):c.5150C>G (p.Pro1717Arg)
|
rs544832628
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
NM_001367624.2(ZNF469):c.5488G>T (p.Ala1830Ser)
|
rs778548266
|
|
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=)
|
rs201666199
|
|
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val)
|
rs886052406
|
|
NM_001367624.2(ZNF469):c.6029G>A (p.Gly2010Glu)
|
rs886052407
|
|
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=)
|
rs12919507
|
|
NM_001367624.2(ZNF469):c.699C>T (p.Asp233=)
|
rs886052391
|
|
NM_001367624.2(ZNF469):c.8003T>C (p.Met2668Thr)
|
rs886052411
|
|
NM_001367624.2(ZNF469):c.8112G>C (p.Glu2704Asp)
|
rs773262065
|
|
NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His)
|
rs142753357
|
|
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu)
|
rs142753357
|
|
NM_001367624.2(ZNF469):c.8974A>C (p.Met2992Leu)
|
rs886052414
|
|
NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=)
|
rs886052415
|
|
NM_014244.5(ADAMTS2):c.*1077A>G
|
rs1011844643
|
|
NM_014244.5(ADAMTS2):c.*1437_*1438del
|
rs375426260
|
|
NM_014244.5(ADAMTS2):c.*1446dup
|
rs151062906
|
|
NM_014244.5(ADAMTS2):c.*1579_*1585del
|
rs539443462
|
|
NM_014244.5(ADAMTS2):c.*1589T>C
|
rs533044375
|
|
NM_014244.5(ADAMTS2):c.*1747A>C
|
rs886060486
|
|
NM_014244.5(ADAMTS2):c.*181C>T
|
rs886060489
|
|
NM_014244.5(ADAMTS2):c.*1837T>G
|
rs1003207022
|
|
NM_014244.5(ADAMTS2):c.*2169G>A
|
rs1762570717
|
|
NM_014244.5(ADAMTS2):c.*2180C>A
|
rs961432521
|
|
NM_014244.5(ADAMTS2):c.*2820C>A
|
rs1381911253
|
|
NM_014244.5(ADAMTS2):c.*2840T>G
|
rs1008909674
|
|
NM_014244.5(ADAMTS2):c.*2923AAC[1]
|
rs886060480
|
|
NM_014244.5(ADAMTS2):c.*2951_*2952delinsAA
|
rs386695575
|
|
NM_014244.5(ADAMTS2):c.*353C>T
|
rs886060487
|
|
NM_014244.5(ADAMTS2):c.*835C>T
|
rs1762596121
|
|
NM_014244.5(ADAMTS2):c.-45T>C
|
rs886060500
|
|
NM_014244.5(ADAMTS2):c.1123G>A (p.Gly375Ser)
|
rs886060494
|
|
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)
|
rs41285549
|
|
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=)
|
rs41285549
|
|
NM_014244.5(ADAMTS2):c.1325C>A (p.Ala442Asp)
|
rs1763419619
|
|
NM_014244.5(ADAMTS2):c.134C>A (p.Pro45His)
|
rs1250691659
|
|
NM_014244.5(ADAMTS2):c.1669A>G (p.Ile557Val)
|
rs1400281876
|
|
NM_014244.5(ADAMTS2):c.1701G>T (p.Trp567Cys)
|
rs2113223246
|
|
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=)
|
rs569510744
|
|
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu)
|
rs200806292
|
|
NM_014244.5(ADAMTS2):c.2036G>T (p.Arg679Leu)
|
rs144554943
|
|
NM_014244.5(ADAMTS2):c.2276C>A (p.Thr759Asn)
|
rs886060493
|
|
NM_014244.5(ADAMTS2):c.2356A>G (p.Lys786Glu)
|
rs979142284
|
|
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=)
|
rs745407557
|
|
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=)
|
rs886060497
|
|
NM_014244.5(ADAMTS2):c.2797A>G (p.Thr933Ala)
|
rs886060492
|
|
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu)
|
rs200309353
|
|
NM_014244.5(ADAMTS2):c.2930G>A (p.Gly977Asp)
|
rs1200659345
|
|
NM_014244.5(ADAMTS2):c.3072G>T (p.Arg1024Ser)
|
rs1762784582
|
|
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=)
|
rs886060491
|
|
NM_014244.5(ADAMTS2):c.3261G>A (p.Lys1087=)
|
rs1762622649
|
|
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=)
|
rs886060496
|
|
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.919T>C (p.Leu307=)
|
rs1764038673
|
|
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu)
|
rs886060498
|
|
NM_018699.3(PRDM5):c.-207G>A
|
rs879793284
|
|
NM_018699.3(PRDM5):c.-245C>G
|
rs886059047
|
|
NM_018699.4(PRDM5):c.*141T>C
|
rs886059040
|
|
NM_018699.4(PRDM5):c.1031-6dup
|
rs35363618
|
|
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr)
|
rs563401372
|
|
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr)
|
rs886059041
|
|
NM_018699.4(PRDM5):c.1538-5T>G
|
rs1744464153
|
|
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=)
|
rs376740879
|
|
NM_018699.4(PRDM5):c.237C>T (p.Ser79=)
|
rs374500219
|
|
NM_018699.4(PRDM5):c.36G>T (p.Leu12=)
|
rs755929725
|
|
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala)
|
rs886059044
|
|
NM_018699.4(PRDM5):c.475+9T>A
|
rs1561379470
|
|
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln)
|
rs886059043
|
|
NM_018699.4(PRDM5):c.650+7A>T
|
rs751182540
|
|
NM_018699.4(PRDM5):c.94-10T>G
|
rs886059045
|
|
NM_018699.4(PRDM5):c.946-9C>T
|
rs886059042
|
|