ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome by Invitae

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 970
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446 0.99509
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_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87913
NM_000089.4(COL1A2):c.936+14C>T rs42518 0.81710
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_004370.6(COL12A1):c.5525-132A>G rs1332778 0.71264
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644 0.65175
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.2952+11A>T rs4240707 0.51337
NM_000093.5(COL5A1):c.2430+20C>T rs3124932 0.36473
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_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_000093.5(COL5A1):c.1569+16A>G rs12685946 0.29746
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.29412
NM_000089.4(COL1A2):c.1665+15A>G rs421587 0.28734
NM_001128225.3(SLC39A13):c.301+20C>T rs755555 0.27982
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_001128225.3(SLC39A13):c.573G>A (p.Ala191=) rs2293576 0.25113
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.3529C>T (p.Pro1177Ser) rs1054480 0.23682
NM_000090.4(COL3A1):c.1978-11C>T rs13306272 0.23521
NM_013352.4(DSE):c.74C>T (p.Thr25Ile) rs10485183 0.23388
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641 0.21622
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_014244.5(ADAMTS2):c.1630-18T>C rs2303638 0.20408
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_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_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_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
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_004370.6(COL12A1):c.1892-8_1892-6del rs199713791 0.10881
NM_000093.5(COL5A1):c.3745-18G>A rs45556931 0.10766
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp) rs12085009 0.10007
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_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_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539 0.06734
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
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_014244.5(ADAMTS2):c.2291-8A>G rs140401199 0.04871
NM_013352.4(DSE):c.1926= (p.Asn642=) rs560644 0.04562
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
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_013352.4(DSE):c.101C>T (p.Pro34Leu) rs35548455 0.04141
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261 0.03924
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312 0.03908
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808 0.03556
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_014244.5(ADAMTS2):c.2959-16G>A rs6863024 0.03326
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_013352.4(DSE):c.844A>G (p.Ile282Val) rs34994230 0.02817
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_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_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000302.4(PLOD1):c.1329-20G>A rs78527487 0.02519
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=) rs35429515 0.02487
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959 0.02433
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
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_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_004370.6(COL12A1):c.5225G>A (p.Arg1742His) rs79830915 0.02025
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_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01840
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_000089.4(COL1A2):c.82-12A>G rs143689469 0.01736
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_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.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.5068-7T>C rs113256540 0.01472
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_013352.4(DSE):c.1118+15G>A rs116330739 0.01381
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.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_004370.6(COL12A1):c.6198A>C (p.Pro2066=) rs34619869 0.01132
NM_000090.4(COL3A1):c.3525+19del rs138061246 0.01120
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_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323 0.00928
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_000090.4(COL3A1):c.80-16C>T rs28763875 0.00914
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
NM_000393.5(COL5A2):c.2661+20G>A rs79623676 0.00876
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
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_014244.5(ADAMTS2):c.1644A>G (p.Gly548=) rs61731454 0.00766
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=) rs73806887 0.00764
NM_000302.4(PLOD1):c.302+15G>A rs140227667 0.00760
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
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_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
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_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
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_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684 0.00560
NM_013352.4(DSE):c.114C>T (p.Ala38=) rs36061922 0.00553
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
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_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_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_000393.5(COL5A2):c.2716-4C>T rs111644889 0.00479
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_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_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422 0.00420
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala) rs77654847 0.00419
NM_000089.4(COL1A2):c.2349+16G>C rs112603291 0.00405
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
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_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474 0.00324
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_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
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_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_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_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_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_007255.3(B4GALT7):c.414-20G>A rs138092105 0.00252
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_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_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088 0.00224
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279 0.00221
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
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_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_130468.4(CHST14):c.288G>A (p.Arg96=) rs371684007 0.00195
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_080605.4(B3GALT6):c.909G>A (p.Glu303=) rs368507303 0.00190
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064 0.00184
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_014244.5(ADAMTS2):c.689-18G>A rs202114393 0.00177
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_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.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_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_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817 0.00140
NM_014244.5(ADAMTS2):c.1512G>A (p.Thr504=) rs141369064 0.00135
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.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=) rs138436047 0.00116
NM_000089.4(COL1A2):c.582T>G (p.Ala194=) rs144540908 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.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_130468.4(CHST14):c.807T>C (p.Asp269=) rs139229738 0.00104
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_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_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_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 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_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_007255.3(B4GALT7):c.51-14C>T rs202024448 0.00079
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_007255.3(B4GALT7):c.723+20G>A rs199543624 0.00074
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_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_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916 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_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_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_000093.5(COL5A1):c.2700+16C>T rs371771646 0.00056
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_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725 0.00050
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_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
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_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_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 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_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00032
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_000393.5(COL5A2):c.2230-16T>A rs375334470 0.00031
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
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_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_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_000093.5(COL5A1):c.5371-17G>A rs376639668 0.00025
NM_000089.4(COL1A2):c.892-13C>G rs200532328 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_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val) rs138068984 0.00022
NM_000089.4(COL1A2):c.981C>T (p.Arg327=) rs141762645 0.00021
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) rs375631252 0.00021
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007 0.00020
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_017946.4(FKBP14):c.349+15G>A rs201366617 0.00019
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097 0.00018
NM_000089.4(COL1A2):c.1353T>A (p.Gly451=) rs545459178 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_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr) rs370143255 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_000089.4(COL1A2):c.226-6C>A rs199616511 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_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.409G>A (p.Val137Ile) rs145757313 0.00013
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=) rs180961776 0.00013
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln) rs200590188 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_000393.5(COL5A2):c.1977+12T>G rs202204374 0.00011
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863 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_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_004370.6(COL12A1):c.732G>A (p.Val244=) rs200141559 0.00010
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137 0.00010
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.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 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_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.684G>A (p.Ser228=) rs139705205 0.00008
NM_017946.4(FKBP14):c.246G>A (p.Leu82=) rs188844900 0.00008
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.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_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln) rs370549168 0.00007
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_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000090.4(COL3A1):c.898-5T>C rs535434618 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.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_007255.3(B4GALT7):c.432C>T (p.Leu144=) rs369974140 0.00006
NM_130468.4(CHST14):c.567G>A (p.Val189=) rs758319940 0.00006
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.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_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.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.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.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_000089.4(COL1A2):c.694-15T>C rs779799840 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.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.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_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.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_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_000090.4(COL3A1):c.1509+7A>C rs201740954 0.00001
NM_000090.4(COL3A1):c.80-13A>C rs566189676 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.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_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_000089.4(COL1A2):c.1863+6dup
NM_000089.4(COL1A2):c.2079+15dup
NM_000089.4(COL1A2):c.2133+12C>A rs554520173
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
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.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.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.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.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.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.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.1970C>A (p.Pro657Gln)
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu) 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.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>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.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.76+22del
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.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_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_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.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[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_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151

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