ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6734
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HGVS dbSNP gnomAD frequency
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582 0.15534
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.104-441G>T rs1800012 0.13897
NM_001367624.2(ZNF469):c.*845T>C rs7187709 0.13371
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
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_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.1569+15C>T rs62574081 0.07860
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_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_000393.5(COL5A2):c.*1165G>A rs13914 0.04890
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_018699.4(PRDM5):c.849G>A (p.Gln283=) rs17051264 0.03566
NM_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_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_004370.6(COL12A1):c.4001-10G>A rs73749974 0.02617
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_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959 0.02433
NM_018699.4(PRDM5):c.660G>A (p.Gln220=) rs74320998 0.02419
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_000093.5(COL5A1):c.*1642G>A rs116053626 0.02360
NM_000093.5(COL5A1):c.*1922G>A rs74979726 0.02332
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_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_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_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_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_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_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
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_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_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_001365276.2(TNXB):c.10607-19C>A rs773540524 0.01008
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_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
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_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
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_001365276.2(TNXB):c.113G>A (p.Arg38Gln) rs149502087 0.00876
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
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_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile) rs6910390 0.00842
NM_000393.5(COL5A2):c.-34C>T rs114102476 0.00807
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_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.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=) rs73806887 0.00764
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_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=) rs137930753 0.00731
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val) rs79330641 0.00719
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_014244.5(ADAMTS2):c.*816C>T rs116130524 0.00690
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.*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_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile) rs17207902 0.00594
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=) rs112581362 0.00587
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_000393.5(COL5A2):c.*798A>G rs116775405 0.00567
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000093.5(COL5A1):c.*269C>T rs372857096 0.00557
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_001365276.2(TNXB):c.10018G>A (p.Gly3340Ser) rs61737606 0.00542
NM_001365276.2(TNXB):c.12378C>T (p.Asp4126=) rs11755562 0.00531
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_001365276.2(TNXB):c.9072C>T (p.His3024=) rs61729739 0.00518
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.2769+19A>T rs111609220 0.00481
NM_000393.5(COL5A2):c.*1852T>C rs116255986 0.00479
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_000093.5(COL5A1):c.-382C>G rs555826102 0.00465
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His) rs150598363 0.00461
NM_001365276.2(TNXB):c.5746A>G (p.Thr1916Ala) rs17207916 0.00455
NM_014244.5(ADAMTS2):c.*977G>A rs138084603 0.00451
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_001367624.2(ZNF469):c.327G>A (p.Ala109=) rs192479136 0.00424
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_014244.5(ADAMTS2):c.*2587T>C rs140304884 0.00414
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_000393.5(COL5A2):c.*1076G>A rs114123906 0.00382
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
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_004370.6(COL12A1):c.4000+5G>A rs181257320 0.00349
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442 0.00334
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_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_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_001365276.2(TNXB):c.2385A>G (p.Thr795=) rs185461070 0.00300
NM_018699.4(PRDM5):c.1632G>A (p.Pro544=) rs116026637 0.00299
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_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp) rs199519673 0.00279
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838 0.00278
NM_004370.6(COL12A1):c.6068-14T>A rs189714891 0.00278
NM_001365276.2(TNXB):c.12058+15G>A rs762839811 0.00275
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_001365276.2(TNXB):c.10368C>T (p.Thr3456=) rs116701346 0.00261
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
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_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=) rs61746872 0.00237
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr) rs756508366 0.00233
NM_001367624.2(ZNF469):c.3773C>A (p.Ala1258Glu) rs141255631 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088 0.00224
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
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_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00217
NM_001365276.2(TNXB):c.909C>G (p.Gly303=) rs111244635 0.00214
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220 0.00214
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_004370.6(COL12A1):c.1892-7T>A rs779185109 0.00210
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
NM_000093.5(COL5A1):c.*58C>T rs56259444 0.00207
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu) rs568623476 0.00202
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly) rs147227015 0.00193
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000393.5(COL5A2):c.-50C>T rs183260194 0.00192
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu) rs76389306 0.00188
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_013352.4(DSE):c.2651G>A (p.Arg884Gln) rs35363262 0.00180
NM_001365276.2(TNXB):c.4444G>A (p.Val1482Met) rs61740336 0.00179
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys) rs200668806 0.00179
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_014244.5(ADAMTS2):c.689-18G>A rs202114393 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_017946.4(FKBP14):c.330C>T (p.Gly110=) rs148034796 0.00173
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00172
NM_001367624.2(ZNF469):c.1953G>A (p.Pro651=) rs564837770 0.00170
NM_001365276.2(TNXB):c.2811C>A (p.Thr937=) rs140665128 0.00166
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile) rs79632685 0.00162
NM_001365276.2(TNXB):c.7633C>T (p.Pro2545Ser) rs201415015 0.00162
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=) rs201266825 0.00159
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys) rs140975523 0.00153
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892 0.00150
NM_014244.5(ADAMTS2):c.*2141G>T rs77882118 0.00149
NM_000093.5(COL5A1):c.*2429T>C rs56031840 0.00148
NM_017946.4(FKBP14):c.375G>C (p.Leu125=) rs143268242 0.00148
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246 0.00147
NM_000090.4(COL3A1):c.*923A>T rs146222772 0.00146
NM_001367624.2(ZNF469):c.1913C>T (p.Pro638Leu) rs572690908 0.00146
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239 0.00141
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817 0.00140
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00140
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr) rs142409885 0.00139
NM_001365276.2(TNXB):c.10046-4C>T rs41267134 0.00138
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078 0.00131
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_000393.5(COL5A2):c.3039+15C>T rs114619770 0.00125
NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln) rs202113575 0.00125
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131 0.00125
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 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_004370.6(COL12A1):c.743T>C (p.Ile248Thr) rs199673248 0.00118
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781 0.00116
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val) rs139653501 0.00113
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu) rs892958562 0.00109
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_001128225.3(SLC39A13):c.416-13C>T rs373723938 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_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=) rs191234581 0.00106
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_001128225.3(SLC39A13):c.406G>A (p.Ala136Thr) rs141246142 0.00105
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=) rs199727625 0.00104
NM_130468.4(CHST14):c.807T>C (p.Asp269=) rs139229738 0.00104
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=) rs376379111 0.00103
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=) rs144797464 0.00103
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763 0.00101
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_014244.5(ADAMTS2):c.2958+4C>T rs375345961 0.00100
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303 0.00096
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150 0.00092
NM_014244.5(ADAMTS2):c.2865C>T (p.His955=) rs752790963 0.00092
NM_000093.5(COL5A1):c.*1343A>G rs77145856 0.00088
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) rs139788610 0.00087
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) rs149616140 0.00087
NM_001128225.3(SLC39A13):c.646-7T>C rs140597965 0.00087
NM_000302.4(PLOD1):c.843+17G>C rs201244598 0.00086
NM_001365276.2(TNXB):c.7866C>T (p.Thr2622=) rs4711284 0.00086
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732 0.00086
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_004370.6(COL12A1):c.4958-7A>C rs1332779 0.00083
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_014244.5(ADAMTS2):c.*1573A>C rs560216364 0.00080
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
NM_000302.4(PLOD1):c.776G>A (p.Arg259His) rs144226170 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_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_001365276.2(TNXB):c.10713C>T (p.Ser3571=) rs758424441 0.00072
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met) rs148810173 0.00072
NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179 0.00070
NM_001367624.2(ZNF469):c.4599A>C (p.Thr1533=) rs142246629 0.00070
NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val) rs200070902 0.00070
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681 0.00069
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=) rs573582117 0.00068
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595 0.00067
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.1883G>A (p.Arg628His) rs140621260 0.00066
NM_000093.5(COL5A1):c.3115-14G>A rs368945793 0.00065
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_001367624.2(ZNF469):c.1406G>C (p.Ser469Thr) rs770926082 0.00063
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly) rs189762594 0.00063
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val) rs76704342 0.00063
NM_014244.5(ADAMTS2):c.732C>T (p.Gly244=) rs143069972 0.00063
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
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_001365276.2(TNXB):c.9663G>A (p.Val3221=) rs2242569 0.00061
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys) rs200693552 0.00061
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218 0.00061
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) rs201547600 0.00061
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln) rs184878358 0.00060
NM_003238.6(TGFB2):c.-5A>T rs200702935 0.00060
NM_000090.4(COL3A1):c.3202-14del rs767971610 0.00059
NM_001365276.2(TNXB):c.7492+8G>A rs191329297 0.00059
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
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_001365276.2(TNXB):c.6972G>A (p.Thr2324=) rs202133293 0.00058
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) rs771000169 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 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_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840 0.00054
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met) rs147008954 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=) rs150079799 0.00054
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00054
NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu) rs575866552 0.00053
NM_001365276.2(TNXB):c.8680G>A (p.Glu2894Lys) rs181699780 0.00053
NM_014244.5(ADAMTS2):c.984C>T (p.Ser328=) rs149253571 0.00053
NM_000302.4(PLOD1):c.1473T>C (p.Asp491=) rs139165192 0.00052
NM_000302.4(PLOD1):c.1584+17C>T rs200962113 0.00052
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_000089.4(COL1A2):c.595-16A>G rs143041120 0.00051
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853 0.00051
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=) rs374962362 0.00051
NM_013352.4(DSE):c.1173G>A (p.Leu391=) rs146663575 0.00051
NM_013352.4(DSE):c.1653G>A (p.Leu551=) rs147124340 0.00051
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_001365276.2(TNXB):c.7954G>A (p.Glu2652Lys) rs202211608 0.00050
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=) rs775513309 0.00050
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_004370.6(COL12A1):c.7950+18T>G rs141529820 0.00049
NM_000052.7(ATP7A):c.3801+6T>C rs181665434 0.00048
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015 0.00048
NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=) rs148934769 0.00047
NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=) rs190855421 0.00047
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=) rs200124872 0.00047
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001128225.3(SLC39A13):c.696C>T (p.His232=) rs371961000 0.00046
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=) rs111683983 0.00045
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr) rs565765056 0.00045
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869 0.00045
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 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_000302.4(PLOD1):c.579+17G>A rs181015965 0.00043
NM_004370.6(COL12A1):c.597A>G (p.Gln199=) rs368715192 0.00043
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681 0.00042
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 0.00042
NM_000093.5(COL5A1):c.*42C>G rs374547961 0.00041
NM_000093.5(COL5A1):c.2089-9C>T rs181246690 0.00041
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285 0.00041
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=) rs138357977 0.00040
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000393.5(COL5A2):c.-96G>T rs28384400 0.00040
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449 0.00040
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030 0.00039
NM_001365276.2(TNXB):c.8468-1G>A rs200718357 0.00039
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=) rs200496785 0.00039
NM_004370.6(COL12A1):c.1892-7_1892-6del rs1491398037 0.00039
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=) rs190018580 0.00039
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) rs762279651 0.00039
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000093.5(COL5A1):c.3690+6T>A rs375998368 0.00038
NM_000302.4(PLOD1):c.1756-13C>T rs370882934 0.00038
NM_003238.6(TGFB2):c.588C>T (p.Gly196=) rs192335285 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_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_014244.5(ADAMTS2):c.*2397G>A rs117141618 0.00036
NM_014244.5(ADAMTS2):c.525C>T (p.Cys175=) rs140167371 0.00036
NM_080605.4(B3GALT6):c.585G>T (p.Gly195=) rs562616873 0.00036
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg) rs185171880 0.00035
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000093.5(COL5A1):c.4814C>T (p.Ala1605Val) rs145175057 0.00034
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000302.4(PLOD1):c.1707G>A (p.Leu569=) rs139468110 0.00034
NM_001999.4(FBN2):c.3087C>T (p.Val1029=) rs777392642 0.00034
NM_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637 0.00034
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=) rs778572930 0.00034
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_004370.6(COL12A1):c.3954A>T (p.Ala1318=) rs200346099 0.00033
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784 0.00033
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277 0.00033
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
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_001734.5(C1S):c.979G>C (p.Val327Leu) rs2239170 0.00032
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.1876-10C>T rs370308401 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.2230-16T>A rs375334470 0.00031
NM_000393.5(COL5A2):c.852G>A (p.Pro284=) rs150092345 0.00031
NM_000393.5(COL5A2):c.98-13T>A rs376487446 0.00031
NM_001365276.2(TNXB):c.7995G>A (p.Gly2665=) rs374115665 0.00031
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=) rs371897217 0.00031
NM_001367624.2(ZNF469):c.4507C>G (p.Leu1503Val) rs139043003 0.00031
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 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_000088.4(COL1A1):c.2414C>T (p.Pro805Leu) rs145307365 0.00029
NM_000089.4(COL1A2):c.138A>C (p.Pro46=) rs148639088 0.00029
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000302.4(PLOD1):c.1471-9C>G rs376476977 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_001128225.3(SLC39A13):c.415+17G>A rs375059400 0.00029
NM_001128225.3(SLC39A13):c.792C>T (p.Gly264=) rs141753455 0.00029
NM_013352.4(DSE):c.1004G>A (p.Arg335His) rs371480627 0.00029
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=) rs368078922 0.00029
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=) rs41317725 0.00028
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_007255.3(B4GALT7):c.564G>A (p.Pro188=) rs115756833 0.00028
NM_014244.5(ADAMTS2):c.1383-15G>A rs373540125 0.00028
NM_017946.4(FKBP14):c.350-8C>T rs368867118 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_014244.5(ADAMTS2):c.2290+13G>A rs368267104 0.00027
NM_014244.5(ADAMTS2):c.2958+7A>G rs377461767 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_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg) rs183149417 0.00026
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=) rs200570792 0.00026
NM_004370.6(COL12A1):c.6256C>A (p.Gln2086Lys) rs562076616 0.00026
NM_014244.5(ADAMTS2):c.*1797C>T rs553329835 0.00026
NM_014244.5(ADAMTS2):c.3012C>T (p.Thr1004=) rs571054777 0.00026
NM_014244.5(ADAMTS2):c.588G>A (p.Lys196=) rs142721501 0.00026
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_014244.5(ADAMTS2):c.770C>A (p.Ala257Glu) rs370679548 0.00026
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_001128225.3(SLC39A13):c.1011C>T (p.Leu337=) rs113058610 0.00025
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_000089.4(COL1A2):c.639+19A>T rs183516726 0.00024
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) rs147058179 0.00024
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000393.5(COL5A2):c.1433A>T (p.Glu478Val) rs559110283 0.00024
NM_001365276.2(TNXB):c.2485G>A (p.Gly829Ser) rs147172260 0.00024
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=) rs747982811 0.00024
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 0.00024
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000093.5(COL5A1):c.*145G>A rs181323324 0.00023
NM_000302.4(PLOD1):c.1471-8C>T rs201661871 0.00023
NM_001365276.2(TNXB):c.9040T>C (p.Cys3014Arg) rs2857007 0.00023
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=) rs750681115 0.00023
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866 0.00023
NM_007255.3(B4GALT7):c.867T>C (p.Thr289=) rs201616836 0.00023
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=) rs145016043 0.00023
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=) rs140031713 0.00022
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765 0.00022
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00022
NM_001365276.2(TNXB):c.12058+6T>G rs761600175 0.00022
NM_004370.6(COL12A1):c.1892-7_1892-6insC rs34433354 0.00022
NM_004370.6(COL12A1):c.4815G>A (p.Glu1605=) rs567079114 0.00022
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=) rs370691983 0.00022
NM_004370.6(COL12A1):c.823+20T>C rs534530101 0.00022
NM_007255.3(B4GALT7):c.222C>G (p.Ala74=) rs200218920 0.00022
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415 0.00022
NM_014244.5(ADAMTS2):c.759G>A (p.Ser253=) rs374180760 0.00022
NM_130468.4(CHST14):c.993C>A (p.Ala331=) rs138273557 0.00022
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
NM_000089.4(COL1A2):c.1329G>A (p.Glu443=) rs146206917 0.00021
NM_000090.4(COL3A1):c.799-11A>T rs200148262 0.00021
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.1774-7C>A rs371941850 0.00021
NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro) rs768691969 0.00021
NM_000093.5(COL5A1):c.921C>T (p.Pro307=) rs144335980 0.00021
NM_000302.4(PLOD1):c.303-16G>A rs369132980 0.00021
NM_001365276.2(TNXB):c.2366G>A (p.Gly789Glu) rs367834992 0.00021
NM_001365276.2(TNXB):c.7906A>G (p.Met2636Val) rs369180703 0.00021
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877 0.00021
NM_004370.6(COL12A1):c.4452T>C (p.Asp1484=) rs202092920 0.00021
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala) rs200034130 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_014244.5(ADAMTS2):c.2271C>T (p.Asp757=) rs137875904 0.00021
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766 0.00021
NM_014244.5(ADAMTS2):c.3552G>A (p.Pro1184=) rs185794582 0.00021
NM_014244.5(ADAMTS2):c.3624C>T (p.Leu1208=) rs139420412 0.00021
NM_000089.4(COL1A2):c.2754C>T (p.Asn918=) rs375719762 0.00020
NM_000093.5(COL5A1):c.999C>T (p.Val333=) rs138702819 0.00020
NM_000393.5(COL5A2):c.2338-6T>C rs375291199 0.00020
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=) rs765470622 0.00019
NM_000089.4(COL1A2):c.873C>T (p.Ser291=) rs770128801 0.00019
NM_000093.5(COL5A1):c.2844+20G>A rs200916696 0.00019
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser) rs139116598 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met) rs145093766 0.00019
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000302.4(PLOD1):c.411G>A (p.Arg137=) rs151122664 0.00019
NM_000393.5(COL5A2):c.3885G>A (p.Thr1295=) rs375110673 0.00019
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366 0.00019
NM_001367624.2(ZNF469):c.5675G>A (p.Arg1892Lys) rs528085780 0.00019
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) rs766410344 0.00019
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=) rs147111006 0.00019
NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn) rs185615367 0.00019
NM_013352.4(DSE):c.450G>A (p.Pro150=) rs773416085 0.00019
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723 0.00019
NM_000089.4(COL1A2):c.1474A>G (p.Ile492Val) rs776551401 0.00018
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000093.5(COL5A1):c.2799+11G>A rs377322092 0.00018
NM_000093.5(COL5A1):c.3185G>A (p.Arg1062Gln) rs771807198 0.00018
NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr) rs150083065 0.00018
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516 0.00018
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848 0.00018
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_004370.6(COL12A1):c.5251+14T>C rs188210409 0.00018
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408 0.00018
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425 0.00018
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn) rs374717566 0.00018
NM_014244.5(ADAMTS2):c.912C>T (p.Asp304=) rs147197558 0.00018
NM_130468.4(CHST14):c.471G>A (p.Val157=) rs200761477 0.00018
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) rs779774302 0.00017
NM_000093.5(COL5A1):c.279G>A (p.Ala93=) rs145090868 0.00017
NM_000093.5(COL5A1):c.417C>T (p.Leu139=) rs138687282 0.00017
NM_000093.5(COL5A1):c.5137-8C>T rs374377228 0.00017
NM_000302.4(PLOD1):c.579+10A>G rs538255620 0.00017
NM_000393.5(COL5A2):c.2884C>A (p.Pro962Thr) rs754018138 0.00017
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=) rs377413592 0.00017
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_013352.4(DSE):c.2727T>C (p.Ile909=) rs199742443 0.00017
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317 0.00017
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000089.4(COL1A2):c.132+20T>C rs767408109 0.00016
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=) rs141091206 0.00016
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) rs112164939 0.00016
NM_000093.5(COL5A1):c.1569+20G>A rs200690483 0.00016
NM_000093.5(COL5A1):c.2287-16T>G rs201161949 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.2117C>T (p.Pro706Leu) rs146175905 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000393.5(COL5A2):c.288T>C (p.Cys96=) rs577308799 0.00016
NM_000393.5(COL5A2):c.961-14T>C rs199880428 0.00016
NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=) rs375764263 0.00016
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln) rs367630003 0.00016
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val) rs201657576 0.00016
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=) rs181007051 0.00016
NM_007255.3(B4GALT7):c.498G>A (p.Leu166=) rs140848441 0.00016
NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu) rs200732558 0.00016
NM_013352.4(DSE):c.1221T>A (p.Pro407=) rs140103226 0.00016
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000093.5(COL5A1):c.4954+16G>A rs370938164 0.00015
NM_000302.4(PLOD1):c.1689G>A (p.Glu563=) rs139230801 0.00015
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866 0.00015
NM_004370.6(COL12A1):c.3443+16G>A rs371060233 0.00015
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396 0.00015
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr) rs199654252 0.00015
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664 0.00015
NM_013352.4(DSE):c.910+20G>A rs376761852 0.00015
NM_014244.5(ADAMTS2):c.2617+19del rs753157368 0.00015
NM_000089.4(COL1A2):c.1252-17T>G rs774667135 0.00014
NM_000089.4(COL1A2):c.2836-17C>T rs370073620 0.00014
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=) rs369434464 0.00014
NM_000090.4(COL3A1):c.1348-18A>G rs115062076 0.00014
NM_000090.4(COL3A1):c.3040-18T>G rs369590025 0.00014
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122 0.00014
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu) rs140943202 0.00014
NM_000093.5(COL5A1):c.2089-8G>A rs368595229 0.00014
NM_000093.5(COL5A1):c.3114+12G>C rs528913410 0.00014
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) rs371821655 0.00014
NM_000093.5(COL5A1):c.36G>C (p.Ala12=) rs1029930975 0.00014
NM_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=) rs200073020 0.00014
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_000302.4(PLOD1):c.2028+17C>T rs373318413 0.00014
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser) rs376971803 0.00014
NM_001128225.3(SLC39A13):c.416-12C>T rs199512587 0.00014
NM_001365276.2(TNXB):c.7417C>T (p.Arg2473Cys) rs373029180 0.00014
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636 0.00014
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=) rs368930149 0.00014
NM_004370.6(COL12A1):c.6048C>T (p.Ser2016=) rs369770672 0.00014
NM_004370.6(COL12A1):c.8469+14T>C rs370535727 0.00014
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His) rs57396313 0.00014
NM_013352.4(DSE):c.240C>T (p.Ser80=) rs143347973 0.00014
NM_014244.5(ADAMTS2):c.161C>T (p.Ala54Val) rs368221089 0.00014
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00014
NM_014244.5(ADAMTS2):c.2290+16G>A rs377081338 0.00014
NM_014244.5(ADAMTS2):c.975+8C>T rs369740542 0.00014
NM_017946.4(FKBP14):c.525G>T (p.Val175=) rs747381671 0.00014
NM_130468.4(CHST14):c.765C>T (p.Gly255=) rs148053059 0.00014
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_000090.4(COL3A1):c.2733T>C (p.Thr911=) rs138961881 0.00013
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr) rs201220788 0.00013
NM_000093.5(COL5A1):c.1476C>T (p.Val492=) rs141093527 0.00013
NM_000093.5(COL5A1):c.1720-12A>C rs372891725 0.00013
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.2332-16T>A rs369948898 0.00013
NM_000093.5(COL5A1):c.2845-17C>A rs368737278 0.00013
NM_000093.5(COL5A1):c.3576C>A (p.Gly1192=) rs141676973 0.00013
NM_000093.5(COL5A1):c.4290C>T (p.Ala1430=) rs368011067 0.00013
NM_000093.5(COL5A1):c.502A>G (p.Ile168Val) rs112858705 0.00013
NM_000302.4(PLOD1):c.644-11C>T rs375303994 0.00013
NM_000302.4(PLOD1):c.843+10C>T rs149399201 0.00013
NM_000302.4(PLOD1):c.853C>T (p.Leu285=) rs370663808 0.00013
NM_000302.4(PLOD1):c.975+14G>A rs371184529 0.00013
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala) rs542643688 0.00013
NM_000393.5(COL5A2):c.228C>T (p.Cys76=) rs564136480 0.00013
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715 0.00013
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00013
NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=) rs140844921 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys) rs377223474 0.00013
NM_004370.6(COL12A1):c.4001-11C>T rs374279219 0.00013
NM_004370.6(COL12A1):c.7809C>T (p.Asp2603=) rs376582053 0.00013
NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=) rs61754844 0.00013
NM_014244.5(ADAMTS2):c.651G>A (p.Thr217=) rs138580383 0.00013
NM_000088.4(COL1A1):c.2973T>C (p.Ser991=) rs568904847 0.00012
NM_000089.4(COL1A2):c.1972-9T>C rs372800013 0.00012
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=) rs370034518 0.00012
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=) rs146837092 0.00012
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=) rs201871481 0.00012
NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=) rs767284056 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_000302.4(PLOD1):c.2181C>T (p.Pro727=) rs140741046 0.00012
NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=) rs761030884 0.00012
NM_001999.4(FBN2):c.2469C>T (p.Asn823=) rs770997817 0.00012
NM_004370.6(COL12A1):c.1891+4A>G rs148292262 0.00012
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg) rs199692759 0.00012
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala) rs777544552 0.00012
NM_007255.3(B4GALT7):c.717G>C (p.Gly239=) rs149805079 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_080605.4(B3GALT6):c.477C>T (p.Ser159=) rs370430307 0.00012
NM_080605.4(B3GALT6):c.582G>T (p.Pro194=) rs532162467 0.00012
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu) rs202068380 0.00011
NM_000089.4(COL1A2):c.2782-19T>G rs193922164 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.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr) rs146195310 0.00011
NM_000093.5(COL5A1):c.3750C>G (p.Pro1250=) rs192806271 0.00011
NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=) rs143794669 0.00011
NM_000093.5(COL5A1):c.4433C>T (p.Pro1478Leu) rs377062537 0.00011
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633 0.00011
NM_000093.5(COL5A1):c.4910G>A (p.Arg1637His) rs199998065 0.00011
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00011
NM_000302.4(PLOD1):c.1608C>T (p.His536=) rs138289419 0.00011
NM_000302.4(PLOD1):c.678G>A (p.Val226=) rs371007185 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.2634A>G (p.Gln878=) rs370304175 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His) rs139264859 0.00011
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184 0.00011
NM_000393.5(COL5A2):c.906+9A>G rs761662868 0.00011
NM_001365276.2(TNXB):c.12210+5G>A rs4959085 0.00011
NM_004370.6(COL12A1):c.1883A>G (p.Lys628Arg) rs752689011 0.00011
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn) rs558571598 0.00011
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00011
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=) rs369646700 0.00011
NM_013352.4(DSE):c.1383T>A (p.Ala461=) rs200485959 0.00011
NM_013352.4(DSE):c.516A>G (p.Thr172=) rs200780195 0.00011
NM_013352.4(DSE):c.645G>A (p.Thr215=) rs370613241 0.00011
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=) rs150535792 0.00011
NM_018699.4(PRDM5):c.1282+9C>T rs79915407 0.00011
NM_000088.4(COL1A1):c.3465C>T (p.Leu1155=) rs368746726 0.00010
NM_000089.4(COL1A2):c.1770A>G (p.Glu590=) rs138019868 0.00010
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=) rs148362963 0.00010
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=) rs745413783 0.00010
NM_000089.4(COL1A2):c.486+15A>G rs193922171 0.00010
NM_000090.4(COL3A1):c.120G>A (p.Ala40=) rs138115610 0.00010
NM_000090.4(COL3A1):c.1707T>C (p.Ser569=) rs141542949 0.00010
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=) rs375673185 0.00010
NM_000090.4(COL3A1):c.3525+19G>A rs781061046 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.1428C>T (p.Pro476=) rs745633063 0.00010
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000093.5(COL5A1):c.2391C>T (p.Ala797=) rs142347159 0.00010
NM_000093.5(COL5A1):c.3936C>T (p.Gly1312=) rs367804791 0.00010
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) rs148006741 0.00010
NM_000393.5(COL5A2):c.3039+7A>G rs369227715 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_000393.5(COL5A2):c.4470C>T (p.Gly1490=) rs142895373 0.00010
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=) rs569036398 0.00010
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_004370.6(COL12A1):c.1050T>C (p.Val350=) rs372113789 0.00010
NM_004370.6(COL12A1):c.1164G>A (p.Thr388=) rs373522815 0.00010
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys) rs530680231 0.00010
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=) rs190984968 0.00010
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala) rs376189614 0.00010
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_014244.5(ADAMTS2):c.1605C>T (p.Asp535=) rs765566532 0.00010
NM_014244.5(ADAMTS2):c.2085+8C>A rs199825726 0.00010
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137 0.00010
NM_014244.5(ADAMTS2):c.814C>T (p.Leu272=) rs531768193 0.00010
NM_080605.4(B3GALT6):c.16C>A (p.Arg6=) rs397514722 0.00010
NM_130468.4(CHST14):c.58C>T (p.Arg20Trp) rs577809616 0.00010
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000089.4(COL1A2):c.1720-13A>C rs755024426 0.00009
NM_000089.4(COL1A2):c.3186T>G (p.Ala1062=) rs930277720 0.00009
NM_000089.4(COL1A2):c.739-4T>G rs373527410 0.00009
NM_000090.4(COL3A1):c.1701G>A (p.Gly567=) rs765802289 0.00009
NM_000090.4(COL3A1):c.3256-12A>G rs763415324 0.00009
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769 0.00009
NM_000093.5(COL5A1):c.*608G>A rs537858864 0.00009
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000093.5(COL5A1):c.1570-7C>T rs566717644 0.00009
NM_000093.5(COL5A1):c.1935+12C>T rs368245632 0.00009
NM_000093.5(COL5A1):c.2844+19C>T rs370610276 0.00009
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys) rs369126350 0.00009
NM_000093.5(COL5A1):c.3007-19A>G rs370503113 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.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.3870A>G (p.Ala1290=) rs541963919 0.00009
NM_000093.5(COL5A1):c.4068+7G>A rs587780905 0.00009
NM_000093.5(COL5A1):c.5370+13C>T rs368524277 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000393.5(COL5A2):c.2715+11T>C rs371363636 0.00009
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570 0.00009
NM_000393.5(COL5A2):c.570G>A (p.Pro190=) rs139666335 0.00009
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_001128225.3(SLC39A13):c.919+14G>A rs377290130 0.00009
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099 0.00009
NM_004370.6(COL12A1):c.3099T>C (p.His1033=) rs751065518 0.00009
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala) rs528319887 0.00009
NM_004370.6(COL12A1):c.5069C>T (p.Ala1690Val) rs763883662 0.00009
NM_004370.6(COL12A1):c.5466C>T (p.Thr1822=) rs373978519 0.00009
NM_004370.6(COL12A1):c.7302C>T (p.Asp2434=) rs372068116 0.00009
NM_004370.6(COL12A1):c.8100+16T>A rs201476445 0.00009
NM_004370.6(COL12A1):c.8523+18G>C rs202002189 0.00009
NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser) rs200375837 0.00009
NM_004370.6(COL12A1):c.8856C>T (p.Ser2952=) rs375760724 0.00009
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=) rs372857848 0.00009
NM_007255.3(B4GALT7):c.828+10G>A rs766078359 0.00009
NM_007255.3(B4GALT7):c.909C>T (p.Gly303=) rs557374282 0.00009
NM_013352.4(DSE):c.2601C>T (p.Tyr867=) rs535021192 0.00009
NM_014244.5(ADAMTS2):c.1775+18C>A rs199809828 0.00009
NM_014244.5(ADAMTS2):c.3088+15G>A rs910578729 0.00009
NM_014244.5(ADAMTS2):c.969T>C (p.Tyr323=) rs374590440 0.00009
NM_017946.4(FKBP14):c.197+16C>T rs375347830 0.00009
NM_080605.4(B3GALT6):c.324C>A (p.Ala108=) rs764859016 0.00009
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His) rs773985005 0.00008
NM_000089.4(COL1A2):c.3954+19T>C rs369698720 0.00008
NM_000090.4(COL3A1):c.1050+6C>T rs528634384 0.00008
NM_000090.4(COL3A1):c.1977+10G>A rs768976215 0.00008
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=) rs771034601 0.00008
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311 0.00008
NM_000093.5(COL5A1):c.3852+9C>T rs548696863 0.00008
NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala) rs556167410 0.00008
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=) rs767372665 0.00008
NM_000093.5(COL5A1):c.5137-7C>T rs376750863 0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000302.4(PLOD1):c.643+15C>T rs376661744 0.00008
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138 0.00008
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339 0.00008
NM_001128225.3(SLC39A13):c.621C>T (p.Leu207=) rs775396957 0.00008
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu) rs769853271 0.00008
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met) rs201657256 0.00008
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met) rs200698641 0.00008
NM_004370.6(COL12A1):c.3069C>T (p.Val1023=) rs746395625 0.00008
NM_004370.6(COL12A1):c.3417C>T (p.Asp1139=) rs755878864 0.00008
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met) rs200108494 0.00008
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp) rs754228661 0.00008
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr) rs181711422 0.00008
NM_013352.4(DSE):c.1860C>T (p.Asp620=) rs376227527 0.00008
NM_014244.5(ADAMTS2):c.2086-5A>C rs770697326 0.00008
NM_014244.5(ADAMTS2):c.513G>T (p.Ala171=) rs369983319 0.00008
NM_018699.4(PRDM5):c.300+17C>T rs376707809 0.00008
NM_130468.4(CHST14):c.151G>C (p.Val51Leu) rs199749498 0.00008
NM_000088.4(COL1A1):c.3532-3C>T rs369283493 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_000089.4(COL1A2):c.855G>C (p.Val285=) rs185254570 0.00007
NM_000090.4(COL3A1):c.2277C>T (p.Gly759=) rs763343051 0.00007
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=) rs147250987 0.00007
NM_000090.4(COL3A1):c.952-7T>A rs371250417 0.00007
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=) rs758336822 0.00007
NM_000093.5(COL5A1):c.3115-10C>T rs1018752469 0.00007
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) rs564398230 0.00007
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629 0.00007
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306 0.00007
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) rs147434147 0.00007
NM_000093.5(COL5A1):c.5223C>T (p.Asn1741=) rs144081161 0.00007
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=) rs142886387 0.00007
NM_000302.4(PLOD1):c.1218G>A (p.Pro406=) rs754812888 0.00007
NM_000302.4(PLOD1):c.1903-5T>A rs776128914 0.00007
NM_000302.4(PLOD1):c.579+16C>T rs552192756 0.00007
NM_000393.5(COL5A2):c.2770-6T>C rs770409954 0.00007
NM_000393.5(COL5A2):c.2931+18G>A rs369992922 0.00007
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059 0.00007
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337 0.00007
NM_000393.5(COL5A2):c.4354-20A>G rs568113641 0.00007
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=) rs368234550 0.00007
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112 0.00007
NM_001128225.3(SLC39A13):c.948G>A (p.Thr316=) rs531462966 0.00007
NM_001365276.2(TNXB):c.6819C>T (p.Pro2273=) rs374172438 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_004370.6(COL12A1):c.1134C>T (p.His378=) rs376523503 0.00007
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu) rs376514006 0.00007
NM_004370.6(COL12A1):c.4288-12T>A rs377491153 0.00007
NM_004370.6(COL12A1):c.4644C>T (p.Val1548=) rs747738369 0.00007
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu) rs373011926 0.00007
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815 0.00007
NM_007255.3(B4GALT7):c.522C>T (p.Asp174=) rs775207945 0.00007
NM_007255.3(B4GALT7):c.561C>T (p.Ser187=) rs767559423 0.00007
NM_013352.4(DSE):c.1005T>A (p.Arg335=) rs375802351 0.00007
NM_014244.5(ADAMTS2):c.1133-19G>A rs537699455 0.00007
NM_014244.5(ADAMTS2):c.1239-12C>T rs772989447 0.00007
NM_014244.5(ADAMTS2):c.2052C>T (p.Asp684=) rs370799965 0.00007
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209 0.00007
NM_014244.5(ADAMTS2):c.2469G>A (p.Val823=) rs182103023 0.00007
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=) rs769689633 0.00007
NM_014244.5(ADAMTS2):c.663C>T (p.Leu221=) rs143757086 0.00007
NM_017946.4(FKBP14):c.350-5G>A rs763069544 0.00007
NM_080605.4(B3GALT6):c.508C>T (p.Leu170=) rs759484127 0.00007
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225 0.00007
NM_000088.4(COL1A1):c.*21G>C rs201085309 0.00006
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) rs748856187 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_000089.4(COL1A2):c.1036-9G>A rs202024467 0.00006
NM_000089.4(COL1A2):c.1086G>A (p.Glu362=) rs200284501 0.00006
NM_000089.4(COL1A2):c.1566A>G (p.Pro522=) rs749869789 0.00006
NM_000089.4(COL1A2):c.2250C>T (p.Asn750=) rs372783567 0.00006
NM_000089.4(COL1A2):c.2796C>T (p.Asn932=) rs757671800 0.00006
NM_000089.4(COL1A2):c.2943+12A>T rs544894904 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000089.4(COL1A2):c.81+15T>C rs758384218 0.00006
NM_000090.4(COL3A1):c.1128C>T (p.His376=) rs771015742 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.2355C>T (p.Pro785=) rs148901664 0.00006
NM_000090.4(COL3A1):c.2688C>T (p.Ser896=) rs112723105 0.00006
NM_000090.4(COL3A1):c.2824-5A>T rs373994011 0.00006
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=) rs367872728 0.00006
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=) rs200917999 0.00006
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=) rs148918486 0.00006
NM_000090.4(COL3A1):c.3418-12A>G rs373367218 0.00006
NM_000090.4(COL3A1):c.3993C>T (p.Ser1331=) rs750815694 0.00006
NM_000090.4(COL3A1):c.546C>T (p.Pro182=) rs754584062 0.00006
NM_000090.4(COL3A1):c.744+11A>G rs375977001 0.00006
NM_000090.4(COL3A1):c.873C>T (p.Gly291=) rs138569287 0.00006
NM_000093.5(COL5A1):c.*2090C>T rs578207933 0.00006
NM_000093.5(COL5A1):c.1409C>T (p.Pro470Leu) rs746905443 0.00006
NM_000093.5(COL5A1):c.1668A>G (p.Ala556=) rs750022273 0.00006
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) rs371345820 0.00006
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970 0.00006
NM_000093.5(COL5A1):c.2646+14G>A rs200583777 0.00006
NM_000093.5(COL5A1):c.2655T>C (p.Ile885=) rs746323129 0.00006
NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=) rs767002656 0.00006
NM_000093.5(COL5A1):c.3205-18C>G rs199557977 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=) rs145134399 0.00006
NM_000093.5(COL5A1):c.3510G>A (p.Lys1170=) rs543950268 0.00006
NM_000093.5(COL5A1):c.3600G>A (p.Pro1200=) rs187345008 0.00006
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=) rs150591401 0.00006
NM_000093.5(COL5A1):c.3906+11G>A rs372939968 0.00006
NM_000093.5(COL5A1):c.3906+14C>T rs377136680 0.00006
NM_000093.5(COL5A1):c.408C>T (p.Pro136=) rs376435758 0.00006
NM_000093.5(COL5A1):c.447G>A (p.Pro149=) rs200290973 0.00006
NM_000093.5(COL5A1):c.4764C>T (p.Asp1588=) rs144672706 0.00006
NM_000093.5(COL5A1):c.753C>T (p.Thr251=) rs374813957 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.1651-8C>T rs191817164 0.00006
NM_000302.4(PLOD1):c.276G>A (p.Glu92=) rs768169776 0.00006
NM_000302.4(PLOD1):c.534C>T (p.Ser178=) rs113384442 0.00006
NM_000302.4(PLOD1):c.77-7T>C rs371488160 0.00006
NM_000302.4(PLOD1):c.936C>T (p.His312=) rs374787907 0.00006
NM_000393.5(COL5A2):c.1617+9G>T rs186490845 0.00006
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=) rs773332771 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.2854C>T (p.Arg952Cys) rs199530997 0.00006
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 0.00006
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000393.5(COL5A2):c.3969A>C (p.Ala1323=) rs1131429 0.00006
NM_000393.5(COL5A2):c.4114-11T>C rs587780908 0.00006
NM_000393.5(COL5A2):c.735T>G (p.Pro245=) rs148851552 0.00006
NM_000393.5(COL5A2):c.906+14A>G rs768645507 0.00006
NM_000393.5(COL5A2):c.985A>G (p.Met329Val) rs140785678 0.00006
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046 0.00006
NM_001128225.3(SLC39A13):c.1038G>A (p.Pro346=) rs772924353 0.00006
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu) rs542593908 0.00006
NM_001128225.3(SLC39A13):c.786+8C>T rs572017658 0.00006
NM_001734.5(C1S):c.124A>G (p.Ile42Val) rs781944012 0.00006
NM_001734.5(C1S):c.622T>C (p.Leu208=) rs144205018 0.00006
NM_004370.6(COL12A1):c.1574A>T (p.Tyr525Phe) rs756100330 0.00006
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe) rs376517147 0.00006
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met) rs149832668 0.00006
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile) rs368113790 0.00006
NM_004370.6(COL12A1):c.2658G>A (p.Leu886=) rs376957850 0.00006
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val) rs200819563 0.00006
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=) rs201270183 0.00006
NM_004370.6(COL12A1):c.3279C>G (p.Leu1093=) rs536622585 0.00006
NM_004370.6(COL12A1):c.3714T>C (p.Ile1238=) rs752068052 0.00006
NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr) rs41269309 0.00006
NM_004370.6(COL12A1):c.4518A>G (p.Ser1506=) rs201039857 0.00006
NM_004370.6(COL12A1):c.525G>A (p.Glu175=) rs199736979 0.00006
NM_004370.6(COL12A1):c.5478G>C (p.Leu1826=) rs201965731 0.00006
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His) rs770194625 0.00006
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=) rs144223578 0.00006
NM_004370.6(COL12A1):c.5799G>A (p.Met1933Ile) rs372482618 0.00006
NM_004370.6(COL12A1):c.5857C>T (p.Arg1953Cys) rs777948762 0.00006
NM_004370.6(COL12A1):c.6073C>T (p.Arg2025Cys) rs534778154 0.00006
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His) rs34336755 0.00006
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr) rs576888932 0.00006
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=) rs1035643006 0.00006
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala) rs758182752 0.00006
NM_004370.6(COL12A1):c.7215G>A (p.Lys2405=) rs568748031 0.00006
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp) rs769219928 0.00006
NM_004370.6(COL12A1):c.7520-17A>G rs770500462 0.00006
NM_004370.6(COL12A1):c.7558+16T>C rs754091668 0.00006
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=) rs763305624 0.00006
NM_007255.3(B4GALT7):c.315C>T (p.Phe105=) rs150487733 0.00006
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp) rs147617631 0.00006
NM_007255.3(B4GALT7):c.723+13G>A rs775276570 0.00006
NM_013352.4(DSE):c.1419C>T (p.Tyr473=) rs374010235 0.00006
NM_013352.4(DSE):c.600A>G (p.Gln200=) rs150006874 0.00006
NM_014244.5(ADAMTS2):c.1239-5C>T rs767804420 0.00006
NM_014244.5(ADAMTS2):c.1414G>A (p.Ala472Thr) rs546681307 0.00006
NM_014244.5(ADAMTS2):c.1524C>A (p.Thr508=) rs778841966 0.00006
NM_014244.5(ADAMTS2):c.2085+17C>T rs200253382 0.00006
NM_014244.5(ADAMTS2):c.2709C>T (p.Ala903=) rs763792775 0.00006
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr) rs375191740 0.00006
NM_014244.5(ADAMTS2):c.723C>T (p.Arg241=) rs373732340 0.00006
NM_014244.5(ADAMTS2):c.747C>T (p.His249=) rs755476647 0.00006
NM_014244.5(ADAMTS2):c.75G>C (p.Pro25=) rs965841596 0.00006
NM_080605.4(B3GALT6):c.768G>A (p.Arg256=) rs779285702 0.00006
NM_130468.4(CHST14):c.447C>T (p.Phe149=) rs761965484 0.00006
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000089.4(COL1A2):c.1521C>T (p.Asn507=) rs747938841 0.00005
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp) rs151256720 0.00005
NM_000089.4(COL1A2):c.2388T>C (p.Gly796=) rs370623514 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_000090.4(COL3A1):c.1150-20T>C rs377676752 0.00005
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000090.4(COL3A1):c.2241C>T (p.Gly747=) rs745440847 0.00005
NM_000090.4(COL3A1):c.2553+7T>C rs951182466 0.00005
NM_000093.5(COL5A1):c.*302C>G rs376087882 0.00005
NM_000093.5(COL5A1):c.1165-8C>T rs770303209 0.00005
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) rs376478864 0.00005
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=) rs372082908 0.00005
NM_000093.5(COL5A1):c.2034+18G>C rs200055343 0.00005
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=) rs368590323 0.00005
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) rs377123592 0.00005
NM_000093.5(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761 0.00005
NM_000093.5(COL5A1):c.2502C>T (p.Pro834=) rs144775947 0.00005
NM_000093.5(COL5A1):c.2593-15T>C rs747677530 0.00005
NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=) rs774035950 0.00005
NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=) rs546229885 0.00005
NM_000093.5(COL5A1):c.4068+11A>G rs371926479 0.00005
NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=) rs537406193 0.00005
NM_000093.5(COL5A1):c.4609-18G>A rs759466196 0.00005
NM_000093.5(COL5A1):c.4645-16T>C rs373762865 0.00005
NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=) rs147904867 0.00005
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=) rs372971566 0.00005
NM_000302.4(PLOD1):c.1071G>A (p.Ala357=) rs374036329 0.00005
NM_000302.4(PLOD1):c.1470+14G>A rs761691961 0.00005
NM_000302.4(PLOD1):c.870C>T (p.Val290=) rs373082170 0.00005
NM_000393.5(COL5A2):c.1005+10C>T rs767297800 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_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372 0.00005
NM_000393.5(COL5A2):c.3309+16A>G rs369424272 0.00005
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817 0.00005
NM_001367624.2(ZNF469):c.4947G>A (p.Ala1649=) rs770986542 0.00005
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly) rs374757163 0.00005
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=) rs199994914 0.00005
NM_004370.6(COL12A1):c.1892-6A>T rs60109744 0.00005
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp) rs758146130 0.00005
NM_004370.6(COL12A1):c.2610G>A (p.Leu870=) rs377030726 0.00005
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=) rs374531525 0.00005
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr) rs201996851 0.00005
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys) rs575168916 0.00005
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His) rs191996302 0.00005
NM_004370.6(COL12A1):c.384C>T (p.Thr128=) rs200378966 0.00005
NM_004370.6(COL12A1):c.4288-5C>T rs544779989 0.00005
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys) rs200870100 0.00005
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=) rs554342070 0.00005
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val) rs367980407 0.00005
NM_004370.6(COL12A1):c.9072C>A (p.Gly3024=) rs572512247 0.00005
NM_007255.3(B4GALT7):c.600C>T (p.Val200=) rs148615542 0.00005
NM_007255.3(B4GALT7):c.66C>T (p.Ser22=) rs774814337 0.00005
NM_007255.3(B4GALT7):c.723+7T>C rs376100460 0.00005
NM_014244.5(ADAMTS2):c.1209G>A (p.Ala403=) rs142967783 0.00005
NM_014244.5(ADAMTS2):c.291C>T (p.Phe97=) rs462009 0.00005
NM_014244.5(ADAMTS2):c.3178+7G>A rs774767519 0.00005
NM_014244.5(ADAMTS2):c.3573A>G (p.Arg1191=) rs540177122 0.00005
NM_014244.5(ADAMTS2):c.535-20C>T rs565768078 0.00005
NM_017946.4(FKBP14):c.350-6C>T rs375827354 0.00005
NM_080605.4(B3GALT6):c.859C>T (p.Leu287=) rs766907387 0.00005
NM_130468.4(CHST14):c.1119G>A (p.Ala373=) rs149555952 0.00005
NM_000088.4(COL1A1):c.299-9G>T rs373041336 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000089.4(COL1A2):c.2481A>C (p.Pro827=) rs142310831 0.00004
NM_000089.4(COL1A2):c.3106-19T>G rs779002473 0.00004
NM_000089.4(COL1A2):c.3114T>C (p.His1038=) rs974267627 0.00004
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro) rs767399660 0.00004
NM_000089.4(COL1A2):c.3268-9C>T rs763122023 0.00004
NM_000089.4(COL1A2):c.3337G>A (p.Asp1113Asn) rs760490617 0.00004
NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=) rs936707370 0.00004
NM_000089.4(COL1A2):c.3600C>T (p.Gly1200=) rs777362679 0.00004
NM_000089.4(COL1A2):c.70+8C>T rs982206007 0.00004
NM_000089.4(COL1A2):c.71-7T>C rs774842422 0.00004
NM_000089.4(COL1A2):c.909C>T (p.Asn303=) rs985639597 0.00004
NM_000090.4(COL3A1):c.1071G>C (p.Gly357=) rs373908002 0.00004
NM_000090.4(COL3A1):c.1348-13T>C rs753505868 0.00004
NM_000090.4(COL3A1):c.1743C>T (p.Pro581=) rs140229974 0.00004
NM_000090.4(COL3A1):c.2121+18C>A rs587780904 0.00004
NM_000090.4(COL3A1):c.2802G>A (p.Ser934=) rs113870310 0.00004
NM_000090.4(COL3A1):c.2931+8T>C rs949146538 0.00004
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=) rs756680770 0.00004
NM_000090.4(COL3A1):c.3202-17G>A rs769789431 0.00004
NM_000090.4(COL3A1):c.898-20A>G rs368279636 0.00004
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser) rs150837465 0.00004
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038 0.00004
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.1372C>T (p.Pro458Ser) rs537950589 0.00004
NM_000093.5(COL5A1):c.1527C>T (p.Ala509=) rs746510456 0.00004
NM_000093.5(COL5A1):c.219C>T (p.Val73=) rs774691915 0.00004
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=) rs367755808 0.00004
NM_000093.5(COL5A1):c.2398A>G (p.Ile800Val) rs146870918 0.00004
NM_000093.5(COL5A1):c.2485-10T>C rs369553063 0.00004
NM_000093.5(COL5A1):c.2592+17G>A rs750947144 0.00004
NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=) rs770802769 0.00004
NM_000093.5(COL5A1):c.4044C>T (p.Gly1348=) rs369945188 0.00004
NM_000093.5(COL5A1):c.4123-20G>A rs751725995 0.00004
NM_000093.5(COL5A1):c.4155A>G (p.Pro1385=) rs1476164063 0.00004
NM_000093.5(COL5A1):c.4231-19G>T rs1002531122 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.4521C>T (p.Gly1507=) rs552985514 0.00004
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=) rs367711669 0.00004
NM_000093.5(COL5A1):c.4740A>G (p.Ala1580=) rs999637196 0.00004
NM_000093.5(COL5A1):c.476A>G (p.Asn159Ser) rs551016059 0.00004
NM_000093.5(COL5A1):c.4785C>T (p.Asp1595=) rs149981025 0.00004
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=) rs199637893 0.00004
NM_000093.5(COL5A1):c.4804G>A (p.Val1602Met) rs201771867 0.00004
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=) rs190912679 0.00004
NM_000093.5(COL5A1):c.4974T>C (p.Pro1658=) rs759203958 0.00004
NM_000093.5(COL5A1):c.5205C>T (p.Ser1735=) rs747118500 0.00004
NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029 0.00004
NM_000093.5(COL5A1):c.5361C>T (p.Asp1787=) rs776090002 0.00004
NM_000093.5(COL5A1):c.5499G>A (p.Pro1833=) rs765397184 0.00004
NM_000093.5(COL5A1):c.945G>A (p.Thr315=) rs149123775 0.00004
NM_000302.4(PLOD1):c.1026C>T (p.Ser342=) rs140159343 0.00004
NM_000302.4(PLOD1):c.1302C>T (p.Tyr434=) rs759448456 0.00004
NM_000302.4(PLOD1):c.1471-18C>T rs368968576 0.00004
NM_000302.4(PLOD1):c.1584+10G>A rs756917169 0.00004
NM_000302.4(PLOD1):c.1629G>C (p.Leu543=) rs764355890 0.00004
NM_000302.4(PLOD1):c.243G>A (p.Leu81=) rs371574381 0.00004
NM_000302.4(PLOD1):c.30G>C (p.Leu10=) rs886039113 0.00004
NM_000302.4(PLOD1):c.438C>T (p.Ser146=) rs765725567 0.00004
NM_000302.4(PLOD1):c.742-5G>A rs746658625 0.00004
NM_000302.4(PLOD1):c.930G>A (p.Arg310=) rs751800110 0.00004
NM_000393.5(COL5A2):c.1005+11G>A rs371296580 0.00004
NM_000393.5(COL5A2):c.1105-18T>C rs930742709 0.00004
NM_000393.5(COL5A2):c.2292G>A (p.Pro764=) rs751503520 0.00004
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060 0.00004
NM_000393.5(COL5A2):c.3525+9del rs1279747855 0.00004
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys) rs745845130 0.00004
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=) rs201460445 0.00004
NM_000393.5(COL5A2):c.3613G>A (p.Val1205Ile) rs377660244 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.3669G>A (p.Pro1223=) rs760353505 0.00004
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=) rs199904322 0.00004
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=) rs754605516 0.00004
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu) rs374225489 0.00004
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His) rs150931608 0.00004
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608 0.00004
NM_000393.5(COL5A2):c.4453A>C (p.Thr1485Pro) rs11553463 0.00004
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=) rs371225266 0.00004
NM_000393.5(COL5A2):c.567+7T>C rs755666206 0.00004
NM_000393.5(COL5A2):c.744+18A>G rs373820975 0.00004
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303 0.00004
NM_000393.5(COL5A2):c.907-5C>A rs756538217 0.00004
NM_001128225.3(SLC39A13):c.1041-15G>A rs762412348 0.00004
NM_001128225.3(SLC39A13):c.132G>A (p.Thr44=) rs201425631 0.00004
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=) rs753665968 0.00004
NM_001128225.3(SLC39A13):c.336C>T (p.Phe112=) rs751302246 0.00004
NM_001128225.3(SLC39A13):c.381C>T (p.Pro127=) rs780281875 0.00004
NM_001128225.3(SLC39A13):c.432C>T (p.Ser144=) rs755503604 0.00004
NM_001128225.3(SLC39A13):c.570C>T (p.Ala190=) rs767677018 0.00004
NM_001128225.3(SLC39A13):c.651C>T (p.Ser217=) rs752707598 0.00004
NM_001128225.3(SLC39A13):c.919+7G>A rs752106866 0.00004
NM_001128225.3(SLC39A13):c.919+9G>A rs767725133 0.00004
NM_001128225.3(SLC39A13):c.933C>T (p.Pro311=) rs374590960 0.00004
NM_001128225.3(SLC39A13):c.934G>A (p.Ala312Thr) rs749499150 0.00004
NM_001128225.3(SLC39A13):c.972C>T (p.Thr324=) rs774905397 0.00004
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=) rs751378266 0.00004
NM_003238.6(TGFB2):c.555C>T (p.Ile185=) rs760740958 0.00004
NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser) rs370379561 0.00004
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln) rs757252832 0.00004
NM_004370.6(COL12A1):c.1683G>A (p.Ala561=) rs371148798 0.00004
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His) rs756803766 0.00004
NM_004370.6(COL12A1):c.1877C>T (p.Ala626Val) rs369924790 0.00004
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly) rs774882851 0.00004
NM_004370.6(COL12A1):c.2064C>T (p.Leu688=) rs746946822 0.00004
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=) rs776302292 0.00004
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser) rs370256196 0.00004
NM_004370.6(COL12A1):c.2499T>C (p.Ser833=) rs1013417237 0.00004
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu) rs201662983 0.00004
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met) rs572007088 0.00004
NM_004370.6(COL12A1):c.2637C>T (p.Tyr879=) rs191863996 0.00004
NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly) rs1180402350 0.00004
NM_004370.6(COL12A1):c.2799C>T (p.Arg933=) rs372499120 0.00004
NM_004370.6(COL12A1):c.2885T>C (p.Ile962Thr) rs746982506 0.00004
NM_004370.6(COL12A1):c.3021A>G (p.Glu1007=) rs368940290 0.00004
NM_004370.6(COL12A1):c.3080G>A (p.Arg1027His) rs79863717 0.00004
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala) rs375221786 0.00004
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=) rs371282637 0.00004
NM_004370.6(COL12A1):c.456A>G (p.Gly152=) rs761930862 0.00004
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp) rs370360673 0.00004
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His) rs180718181 0.00004
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518 0.00004
NM_004370.6(COL12A1):c.4963G>A (p.Val1655Met) rs749368197 0.00004
NM_004370.6(COL12A1):c.5098-13C>T rs186255379 0.00004
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser) rs201810535 0.00004
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser) rs373020081 0.00004
NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val) rs753254039 0.00004
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=) rs371016672 0.00004
NM_004370.6(COL12A1):c.5388G>A (p.Glu1796=) rs1479706901 0.00004
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.5425G>A (p.Val1809Ile) rs757737726 0.00004
NM_004370.6(COL12A1):c.546T>C (p.Val182=) rs764254293 0.00004
NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=) rs747217911 0.00004
NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys) rs201372309 0.00004
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys) rs775862147 0.00004
NM_004370.6(COL12A1):c.588G>A (p.Gln196=) rs748928908 0.00004
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=) rs376241836 0.00004
NM_004370.6(COL12A1):c.633A>G (p.Pro211=) rs541648868 0.00004
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=) rs553575841 0.00004
NM_004370.6(COL12A1):c.6607+8A>G rs781751102 0.00004
NM_004370.6(COL12A1):c.6608-4G>A rs374995108 0.00004
NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg) rs1053454286 0.00004
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val) rs752850582 0.00004
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp) rs368686970 0.00004
NM_004370.6(COL12A1):c.7005G>C (p.Gly2335=) rs760111437 0.00004
NM_004370.6(COL12A1):c.7086+14C>T rs778933089 0.00004
NM_004370.6(COL12A1):c.7107C>T (p.Ser2369=) rs754178898 0.00004
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met) rs183898615 0.00004
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly) rs202109365 0.00004
NM_004370.6(COL12A1):c.7801G>T (p.Asp2601Tyr) rs757556640 0.00004
NM_004370.6(COL12A1):c.794G>A (p.Arg265His) rs778155362 0.00004
NM_004370.6(COL12A1):c.7950+20T>G rs752468536 0.00004
NM_004370.6(COL12A1):c.8277T>A (p.Gly2759=) rs187901672 0.00004
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=) rs761216954 0.00004
NM_004370.6(COL12A1):c.8469+10T>C rs375332527 0.00004
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu) rs369360559 0.00004
NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu) rs751638930 0.00004
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser) rs746453262 0.00004
NM_007255.3(B4GALT7):c.225C>T (p.Cys75=) rs780427259 0.00004
NM_007255.3(B4GALT7):c.51-13G>A rs1405020049 0.00004
NM_007255.3(B4GALT7):c.603C>T (p.Gly201=) rs374198956 0.00004
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys) rs201489289 0.00004
NM_013352.4(DSE):c.120C>T (p.Tyr40=) rs75392879 0.00004
NM_013352.4(DSE):c.1737C>T (p.Pro579=) rs765462761 0.00004
NM_013352.4(DSE):c.730C>T (p.Leu244=) rs1041865456 0.00004
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=) rs1402048390 0.00004
NM_014244.5(ADAMTS2):c.1062G>A (p.Thr354=) rs745324060 0.00004
NM_014244.5(ADAMTS2):c.1254C>T (p.His418=) rs758041605 0.00004
NM_014244.5(ADAMTS2):c.1383-8C>T rs748944006 0.00004
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=) rs142275705 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.2403C>T (p.Asp801=) rs374315892 0.00004
NM_014244.5(ADAMTS2):c.2618-18C>T rs753080133 0.00004
NM_014244.5(ADAMTS2):c.2628C>T (p.Phe876=) rs371021469 0.00004
NM_014244.5(ADAMTS2):c.2697G>A (p.Ser899=) rs570418931 0.00004
NM_014244.5(ADAMTS2):c.2751-15G>A rs376602983 0.00004
NM_014244.5(ADAMTS2):c.2959-12C>G rs773920252 0.00004
NM_014244.5(ADAMTS2):c.3027C>T (p.Phe1009=) rs766033559 0.00004
NM_014244.5(ADAMTS2):c.3345C>T (p.Asp1115=) rs375463371 0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905 0.00004
NM_014244.5(ADAMTS2):c.846C>T (p.His282=) rs150860515 0.00004
NM_014244.5(ADAMTS2):c.960C>T (p.Leu320=) rs147007079 0.00004
NM_014244.5(ADAMTS2):c.976-10C>A rs973000351 0.00004
NM_080605.4(B3GALT6):c.10C>T (p.Leu4=) rs928368471 0.00004
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=) rs547484259 0.00004
NM_130468.4(CHST14):c.111G>C (p.Pro37=) rs746603977 0.00004
NM_130468.4(CHST14):c.315G>A (p.Arg105=) rs903042632 0.00004
NM_130468.4(CHST14):c.891C>G (p.Gly297=) rs772809123 0.00004
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile) rs550867796 0.00003
NM_000089.4(COL1A2):c.1422C>T (p.Asp474=) rs766360064 0.00003
NM_000089.4(COL1A2):c.150A>C (p.Pro50=) rs369695645 0.00003
NM_000089.4(COL1A2):c.2403+7A>G rs751913918 0.00003
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=) rs751960243 0.00003
NM_000089.4(COL1A2):c.2943+20T>C rs777594155 0.00003
NM_000089.4(COL1A2):c.3200G>A (p.Arg1067His) rs530026906 0.00003
NM_000089.4(COL1A2):c.3526+10G>T rs779375338 0.00003
NM_000089.4(COL1A2):c.3712-11A>G rs748154668 0.00003
NM_000089.4(COL1A2):c.81+10A>G rs750283092 0.00003
NM_000090.4(COL3A1):c.1176T>C (p.Pro392=) rs778702019 0.00003
NM_000090.4(COL3A1):c.1584C>T (p.Gly528=) rs946270867 0.00003
NM_000090.4(COL3A1):c.1816-4T>C rs765128089 0.00003
NM_000090.4(COL3A1):c.2274T>C (p.Asp758=) rs1060503872 0.00003
NM_000090.4(COL3A1):c.2446-10T>C rs1060500195 0.00003
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) rs794727586 0.00003
NM_000090.4(COL3A1):c.2608-19A>C rs372917900 0.00003
NM_000090.4(COL3A1):c.2709G>A (p.Gly903=) rs1057524521 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.39C>T (p.Leu13=) rs1343634872 0.00003
NM_000090.4(COL3A1):c.447+13C>T rs751726448 0.00003
NM_000090.4(COL3A1):c.708C>T (p.Pro236=) rs775390389 0.00003
NM_000090.4(COL3A1):c.853-7T>C rs377063305 0.00003
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr) rs762108965 0.00003
NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=) rs373846823 0.00003
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331 0.00003
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=) rs529255491 0.00003
NM_000093.5(COL5A1):c.1827+11C>T rs374795810 0.00003
NM_000093.5(COL5A1):c.192G>A (p.Thr64=) rs746717050 0.00003
NM_000093.5(COL5A1):c.2079C>T (p.Pro693=) rs186098435 0.00003
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu) rs779540528 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.2430+7C>A rs569413440 0.00003
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys) rs762336160 0.00003
NM_000093.5(COL5A1):c.2706C>T (p.Thr902=) rs781027757 0.00003
NM_000093.5(COL5A1):c.2899-13G>T rs761096695 0.00003
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=) rs760754491 0.00003
NM_000093.5(COL5A1):c.3529-4G>A rs779064113 0.00003
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=) rs766961124 0.00003
NM_000093.5(COL5A1):c.3745-17T>C rs376808101 0.00003
NM_000093.5(COL5A1):c.3786T>G (p.Ala1262=) rs1233949819 0.00003
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=) rs773909152 0.00003
NM_000093.5(COL5A1):c.4069-16G>A rs201267375 0.00003
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=) rs759256816 0.00003
NM_000093.5(COL5A1):c.4392+8A>G rs764596365 0.00003
NM_000093.5(COL5A1):c.4719C>T (p.Ile1573=) rs966533667 0.00003
NM_000093.5(COL5A1):c.4836C>T (p.Phe1612=) rs183904215 0.00003
NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=) rs760426595 0.00003
NM_000093.5(COL5A1):c.513C>T (p.Ser171=) rs754997436 0.00003
NM_000093.5(COL5A1):c.5262C>T (p.Asp1754=) rs771317760 0.00003
NM_000093.5(COL5A1):c.5371-15C>T rs369764872 0.00003
NM_000093.5(COL5A1):c.603C>T (p.Ile201=) rs747624923 0.00003
NM_000093.5(COL5A1):c.615C>A (p.Ile205=) rs201286195 0.00003
NM_000093.5(COL5A1):c.654+11G>A rs750385038 0.00003
NM_000093.5(COL5A1):c.735C>T (p.Asp245=) rs746769184 0.00003
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873 0.00003
NM_000302.4(PLOD1):c.1110G>A (p.Arg370=) rs148644646 0.00003
NM_000302.4(PLOD1):c.1152C>T (p.Asp384=) rs771685198 0.00003
NM_000302.4(PLOD1):c.1194A>G (p.Gln398=) rs755978483 0.00003
NM_000302.4(PLOD1):c.1197G>A (p.Gln399=) rs753853335 0.00003
NM_000302.4(PLOD1):c.1293C>T (p.Ser431=) rs776976856 0.00003
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008 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.336G>A (p.Glu112=) rs746999816 0.00003
NM_000302.4(PLOD1):c.684G>A (p.Ala228=) rs183225496 0.00003
NM_000302.4(PLOD1):c.774G>A (p.Pro258=) rs753994916 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000393.5(COL5A2):c.1006-8G>A rs200405052 0.00003
NM_000393.5(COL5A2):c.1059+8T>C rs200968159 0.00003
NM_000393.5(COL5A2):c.1159-7C>A rs377321742 0.00003
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285 0.00003
NM_000393.5(COL5A2):c.1869+17A>G rs776780834 0.00003
NM_000393.5(COL5A2):c.1923+11A>G rs368776400 0.00003
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys) rs201961021 0.00003
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127 0.00003
NM_000393.5(COL5A2):c.3148-15C>T rs901541312 0.00003
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064 0.00003
NM_000393.5(COL5A2):c.3717C>T (p.His1239=) rs769790821 0.00003
NM_000393.5(COL5A2):c.3768G>A (p.Ala1256=) rs767144730 0.00003
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His) rs747653593 0.00003
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930 0.00003
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser) rs145755198 0.00003
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser) rs1436390158 0.00003
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511 0.00003
NM_000393.5(COL5A2):c.4408G>A (p.Ala1470Thr) rs753194366 0.00003
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) rs767252151 0.00003
NM_000393.5(COL5A2):c.537G>A (p.Pro179=) rs762891893 0.00003
NM_000393.5(COL5A2):c.602A>C (p.Lys201Thr) rs758156613 0.00003
NM_000393.5(COL5A2):c.691-4G>A rs767803370 0.00003
NM_000393.5(COL5A2):c.697G>A (p.Ala233Thr) rs148005959 0.00003
NM_001128225.3(SLC39A13):c.183C>T (p.Ser61=) rs768720700 0.00003
NM_001128225.3(SLC39A13):c.405C>T (p.Ser135=) rs371063274 0.00003
NM_001128225.3(SLC39A13):c.627C>T (p.Ala209=) rs768982611 0.00003
NM_001128225.3(SLC39A13):c.736-18C>T rs761758087 0.00003
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=) rs574024256 0.00003
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=) rs371397121 0.00003
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607 0.00003
NM_004370.6(COL12A1):c.1256T>C (p.Met419Thr) rs201085951 0.00003
NM_004370.6(COL12A1):c.1298G>A (p.Arg433His) rs775010013 0.00003
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=) rs780442166 0.00003
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr) rs1235556906 0.00003
NM_004370.6(COL12A1):c.2028T>C (p.Thr676=) rs1318149393 0.00003
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=) rs780620827 0.00003
NM_004370.6(COL12A1):c.2165-8T>C rs909913796 0.00003
NM_004370.6(COL12A1):c.2261G>A (p.Arg754Gln) rs377480187 0.00003
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile) rs375704787 0.00003
NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg) rs1357325121 0.00003
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg) rs762817385 0.00003
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys) rs373637483 0.00003
NM_004370.6(COL12A1):c.3566-8C>A rs201709757 0.00003
NM_004370.6(COL12A1):c.3780G>C (p.Lys1260Asn) rs767422633 0.00003
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser) rs774035582 0.00003
NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys) rs978290681 0.00003
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His) rs200125060 0.00003
NM_004370.6(COL12A1):c.4223C>T (p.Pro1408Leu) rs773936793 0.00003
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly) rs201651899 0.00003
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His) rs751419788 0.00003
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met) rs373216375 0.00003
NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile) rs373826197 0.00003
NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His) rs373006852 0.00003
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys) rs780206104 0.00003
NM_004370.6(COL12A1):c.492T>C (p.Ala164=) rs748734386 0.00003
NM_004370.6(COL12A1):c.5394+10T>A rs890398079 0.00003
NM_004370.6(COL12A1):c.552C>T (p.Tyr184=) rs372356221 0.00003
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val) rs565471668 0.00003
NM_004370.6(COL12A1):c.5746G>A (p.Val1916Ile) rs778672810 0.00003
NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His) rs751986784 0.00003
NM_004370.6(COL12A1):c.5793A>G (p.Thr1931=) rs199632288 0.00003
NM_004370.6(COL12A1):c.6141T>C (p.His2047=) rs773648194 0.00003
NM_004370.6(COL12A1):c.6200T>C (p.Ile2067Thr) rs755180015 0.00003
NM_004370.6(COL12A1):c.6332G>A (p.Gly2111Glu) rs771019349 0.00003
NM_004370.6(COL12A1):c.6947-6T>C rs200538799 0.00003
NM_004370.6(COL12A1):c.7677G>A (p.Ala2559=) rs373585140 0.00003
NM_004370.6(COL12A1):c.7734G>A (p.Thr2578=) rs368616942 0.00003
NM_004370.6(COL12A1):c.8390A>G (p.Asn2797Ser) rs766046177 0.00003
NM_004370.6(COL12A1):c.8578-4G>A rs780000164 0.00003
NM_004370.6(COL12A1):c.8655A>C (p.Pro2885=) rs751804493 0.00003
NM_004370.6(COL12A1):c.8686-5A>T rs749754621 0.00003
NM_004370.6(COL12A1):c.8799T>C (p.Asp2933=) rs768543325 0.00003
NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=) rs375094592 0.00003
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=) rs757106110 0.00003
NM_007255.3(B4GALT7):c.273C>T (p.Gly91=) rs375667092 0.00003
NM_007255.3(B4GALT7):c.517C>T (p.Leu173=) rs373068387 0.00003
NM_007255.3(B4GALT7):c.829-14C>G rs199973542 0.00003
NM_013352.4(DSE):c.1140G>A (p.Ser380=) rs756171586 0.00003
NM_013352.4(DSE):c.136C>T (p.Leu46=) rs754023509 0.00003
NM_013352.4(DSE):c.753G>A (p.Thr251=) rs769250716 0.00003
NM_014244.5(ADAMTS2):c.1185C>T (p.Asn395=) rs779543980 0.00003
NM_014244.5(ADAMTS2):c.1323C>T (p.Ala441=) rs781602081 0.00003
NM_014244.5(ADAMTS2):c.1641A>G (p.Lys547=) rs776592829 0.00003
NM_014244.5(ADAMTS2):c.1902C>T (p.Phe634=) rs769205569 0.00003
NM_014244.5(ADAMTS2):c.2034G>A (p.Thr678=) rs139943837 0.00003
NM_014244.5(ADAMTS2):c.2451C>T (p.Thr817=) rs138564815 0.00003
NM_014244.5(ADAMTS2):c.2618-20G>A rs756658312 0.00003
NM_014244.5(ADAMTS2):c.2721G>A (p.Ala907=) rs373304304 0.00003
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=) rs768390657 0.00003
NM_014244.5(ADAMTS2):c.2943C>T (p.Ala981=) rs139382256 0.00003
NM_014244.5(ADAMTS2):c.3045G>A (p.Glu1015=) rs776489447 0.00003
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=) rs766731589 0.00003
NM_014244.5(ADAMTS2):c.600G>A (p.Ala200=) rs761444202 0.00003
NM_014244.5(ADAMTS2):c.891+9G>A rs749508251 0.00003
NM_014244.5(ADAMTS2):c.976-8C>T rs745799902 0.00003
NM_080605.4(B3GALT6):c.147C>A (p.Pro49=) rs1204837935 0.00003
NM_080605.4(B3GALT6):c.175C>T (p.Leu59=) rs963500907 0.00003
NM_080605.4(B3GALT6):c.576C>T (p.Val192=) rs762952410 0.00003
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu) rs782602356 0.00002
NM_000089.4(COL1A2):c.1036-10T>C rs1363231522 0.00002
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=) rs753455668 0.00002
NM_000089.4(COL1A2):c.1359T>C (p.Pro453=) rs768981392 0.00002
NM_000089.4(COL1A2):c.2382G>A (p.Arg794=) rs754562962 0.00002
NM_000089.4(COL1A2):c.2673+10T>A rs747098214 0.00002
NM_000089.4(COL1A2):c.2782-20T>C rs369687449 0.00002
NM_000089.4(COL1A2):c.280-8C>T rs371996944 0.00002
NM_000089.4(COL1A2):c.3108T>C (p.Gly1036=) rs768992682 0.00002
NM_000089.4(COL1A2):c.3261C>T (p.Gly1087=) rs142518265 0.00002
NM_000089.4(COL1A2):c.3852C>A (p.Gly1284=) rs663 0.00002
NM_000089.4(COL1A2):c.639+20T>C rs771890345 0.00002
NM_000089.4(COL1A2):c.657T>G (p.Pro219=) rs771837515 0.00002
NM_000089.4(COL1A2):c.679G>A (p.Ala227Thr) rs375401215 0.00002
NM_000089.4(COL1A2):c.693+7G>T rs759896464 0.00002
NM_000089.4(COL1A2):c.694-19C>T rs758082806 0.00002
NM_000090.4(COL3A1):c.1023C>T (p.Ala341=) rs373392096 0.00002
NM_000090.4(COL3A1):c.1464T>C (p.Pro488=) rs377706172 0.00002
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=) rs759650260 0.00002
NM_000090.4(COL3A1):c.1746T>C (p.Gly582=) rs1373257114 0.00002
NM_000090.4(COL3A1):c.1860A>T (p.Pro620=) rs141128796 0.00002
NM_000090.4(COL3A1):c.186C>T (p.Cys62=) rs764749176 0.00002
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=) rs746947080 0.00002
NM_000090.4(COL3A1):c.2187A>G (p.Gly729=) rs772997837 0.00002
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser) rs771671892 0.00002
NM_000090.4(COL3A1):c.2394T>C (p.Gly798=) rs886038982 0.00002
NM_000090.4(COL3A1):c.2608-10C>T rs1217009146 0.00002
NM_000090.4(COL3A1):c.2823+20T>A rs577105300 0.00002
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=) rs41264441 0.00002
NM_000090.4(COL3A1):c.300T>C (p.Asn100=) rs776373729 0.00002
NM_000090.4(COL3A1):c.3057T>C (p.Asp1019=) rs151192026 0.00002
NM_000090.4(COL3A1):c.3069C>A (p.Gly1023=) rs778417073 0.00002
NM_000090.4(COL3A1):c.3411C>T (p.Gly1137=) rs776330422 0.00002
NM_000090.4(COL3A1):c.3444T>C (p.Pro1148=) rs776077444 0.00002
NM_000090.4(COL3A1):c.3526-16G>A rs373856456 0.00002
NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val) rs148387626 0.00002
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333 0.00002
NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=) rs113753099 0.00002
NM_000090.4(COL3A1):c.4176G>A (p.Leu1392=) rs758221289 0.00002
NM_000090.4(COL3A1):c.432C>T (p.Cys144=) rs539430522 0.00002
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=) rs376207711 0.00002
NM_000090.4(COL3A1):c.4341T>C (p.Tyr1447=) rs773400185 0.00002
NM_000090.4(COL3A1):c.528+9A>T rs746532251 0.00002
NM_000090.4(COL3A1):c.582+12C>T rs41272799 0.00002
NM_000090.4(COL3A1):c.690+15C>T rs374426800 0.00002
NM_000090.4(COL3A1):c.691-8C>G rs749433733 0.00002
NM_000090.4(COL3A1):c.696A>G (p.Glu232=) rs193922177 0.00002
NM_000090.4(COL3A1):c.804C>T (p.Phe268=) rs267599121 0.00002
NM_000090.4(COL3A1):c.969C>T (p.Asp323=) rs779278835 0.00002
NM_000093.5(COL5A1):c.1122C>T (p.Ala374=) rs758640551 0.00002
NM_000093.5(COL5A1):c.1284G>A (p.Ser428=) rs745575705 0.00002
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=) rs373460629 0.00002
NM_000093.5(COL5A1):c.1332+20C>T rs935688642 0.00002
NM_000093.5(COL5A1):c.1431+10C>T rs1176378428 0.00002
NM_000093.5(COL5A1):c.1431+11G>A rs768116740 0.00002
NM_000093.5(COL5A1):c.1508G>A (p.Arg503His) rs146716315 0.00002
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln) rs375762619 0.00002
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=) rs148094039 0.00002
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=) rs761257919 0.00002
NM_000093.5(COL5A1):c.1827+16G>A rs745897562 0.00002
NM_000093.5(COL5A1):c.1882-20C>G rs774254944 0.00002
NM_000093.5(COL5A1):c.1899C>T (p.Asp633=) rs757951119 0.00002
NM_000093.5(COL5A1):c.2088+15C>T rs896840592 0.00002
NM_000093.5(COL5A1):c.2133+18C>T rs751486483 0.00002
NM_000093.5(COL5A1):c.217G>A (p.Val73Ile) rs148793863 0.00002
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser) rs766839110 0.00002
NM_000093.5(COL5A1):c.2508C>T (p.Pro836=) rs373285312 0.00002
NM_000093.5(COL5A1):c.2526T>C (p.Pro842=) rs763634004 0.00002
NM_000093.5(COL5A1):c.2601C>T (p.Leu867=) rs767014646 0.00002
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317 0.00002
NM_000093.5(COL5A1):c.2646+18T>A rs754790166 0.00002
NM_000093.5(COL5A1):c.2694C>T (p.Gly898=) rs139394549 0.00002
NM_000093.5(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577 0.00002
NM_000093.5(COL5A1):c.2715G>A (p.Lys905=) rs533217850 0.00002
NM_000093.5(COL5A1):c.2808C>T (p.Ser936=) rs142849628 0.00002
NM_000093.5(COL5A1):c.2895C>G (p.Pro965=) rs765189446 0.00002
NM_000093.5(COL5A1):c.2952+9C>T rs955068180 0.00002
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys) rs780601499 0.00002
NM_000093.5(COL5A1):c.3041G>A (p.Arg1014His) rs754184016 0.00002
NM_000093.5(COL5A1):c.3258+7C>A rs750710374 0.00002
NM_000093.5(COL5A1):c.3366+18T>C rs751538872 0.00002
NM_000093.5(COL5A1):c.3483C>T (p.Ile1161=) rs576483507 0.00002
NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=) rs748000980 0.00002
NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=) rs377422775 0.00002
NM_000093.5(COL5A1):c.3774A>G (p.Gly1258=) rs938941709 0.00002
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe) rs762625123 0.00002
NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser) rs769814019 0.00002
NM_000093.5(COL5A1):c.3906+7G>A rs200333878 0.00002
NM_000093.5(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173 0.00002
NM_000093.5(COL5A1):c.3975C>T (p.Pro1325=) rs951777673 0.00002
NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=) rs145101509 0.00002
NM_000093.5(COL5A1):c.420C>T (p.Tyr140=) rs540553997 0.00002
NM_000093.5(COL5A1):c.4319G>A (p.Arg1440Gln) rs758650140 0.00002
NM_000093.5(COL5A1):c.4378C>A (p.Pro1460Thr) rs773125713 0.00002
NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu) rs773728118 0.00002
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His) rs373653069 0.00002
NM_000093.5(COL5A1):c.4608+19C>T rs200797820 0.00002
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460 0.00002
NM_000093.5(COL5A1):c.4703C>T (p.Pro1568Leu) rs780846555 0.00002
NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=) rs370009851 0.00002
NM_000093.5(COL5A1):c.4940C>T (p.Pro1647Leu) rs140669047 0.00002
NM_000093.5(COL5A1):c.4955-13C>T rs770897242 0.00002
NM_000093.5(COL5A1):c.5029G>A (p.Gly1677Arg) rs768184058 0.00002
NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=) rs371875408 0.00002
NM_000093.5(COL5A1):c.5193G>A (p.Leu1731=) rs751537287 0.00002
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser) rs747231282 0.00002
NM_000093.5(COL5A1):c.526A>C (p.Asn176His) rs369396868 0.00002
NM_000093.5(COL5A1):c.5281G>A (p.Asp1761Asn) rs773055539 0.00002
NM_000093.5(COL5A1):c.528T>C (p.Asn176=) rs769674770 0.00002
NM_000093.5(COL5A1):c.5310C>T (p.Asn1770=) rs764817290 0.00002
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His) rs746104317 0.00002
NM_000093.5(COL5A1):c.5371-8T>C rs1352923765 0.00002
NM_000093.5(COL5A1):c.5436C>T (p.Ile1812=) rs140744620 0.00002
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met) rs755914340 0.00002
NM_000093.5(COL5A1):c.5460C>T (p.Phe1820=) rs768460206 0.00002
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908 0.00002
NM_000093.5(COL5A1):c.655-16G>A rs371301230 0.00002
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=) rs755056846 0.00002
NM_000302.4(PLOD1):c.1202+7C>T rs1264171984 0.00002
NM_000302.4(PLOD1):c.1554C>T (p.Asn518=) rs759491848 0.00002
NM_000302.4(PLOD1):c.1651-10C>T rs755961387 0.00002
NM_000302.4(PLOD1):c.1902+9G>T rs200395169 0.00002
NM_000302.4(PLOD1):c.2013C>T (p.Val671=) rs541261242 0.00002
NM_000302.4(PLOD1):c.466+12G>T rs774213935 0.00002
NM_000302.4(PLOD1):c.570G>A (p.Pro190=) rs776173072 0.00002
NM_000302.4(PLOD1):c.742-6C>T rs569632202 0.00002
NM_000302.4(PLOD1):c.834G>A (p.Lys278=) rs557353959 0.00002
NM_000302.4(PLOD1):c.861G>A (p.Thr287=) rs747570972 0.00002
NM_000302.4(PLOD1):c.882C>T (p.Ile294=) rs747668784 0.00002
NM_000302.4(PLOD1):c.939C>T (p.Tyr313=) rs1411565422 0.00002
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338 0.00002
NM_000393.5(COL5A2):c.1564-8A>T rs776187028 0.00002
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser) rs200205564 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000393.5(COL5A2):c.1716+13C>G rs779517028 0.00002
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=) rs765364009 0.00002
NM_000393.5(COL5A2):c.2446-17T>G rs774566945 0.00002
NM_000393.5(COL5A2):c.2550C>A (p.Pro850=) rs375877757 0.00002
NM_000393.5(COL5A2):c.2661+13G>T rs534626192 0.00002
NM_000393.5(COL5A2):c.2662-13T>G rs764874823 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=) rs1060504380 0.00002
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945 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.3325A>G (p.Ile1109Val) rs766499543 0.00002
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803 0.00002
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646 0.00002
NM_000393.5(COL5A2):c.3363+18G>T rs1465568437 0.00002
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro) rs144890303 0.00002
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser) rs780899667 0.00002
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175 0.00002
NM_000393.5(COL5A2):c.3792G>A (p.Thr1264=) rs773058827 0.00002
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly) rs555111281 0.00002
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys) rs1247714244 0.00002
NM_000393.5(COL5A2):c.4114-14C>G rs777751790 0.00002
NM_000393.5(COL5A2):c.4251G>A (p.Lys1417=) rs965891508 0.00002
NM_000393.5(COL5A2):c.4346C>A (p.Thr1449Asn) rs550723518 0.00002
NM_000393.5(COL5A2):c.44T>C (p.Ile15Thr) rs369394572 0.00002
NM_000393.5(COL5A2):c.568-11C>T rs375129913 0.00002
NM_000393.5(COL5A2):c.799-6A>G rs111586240 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) rs782313331 0.00002
NM_001128225.3(SLC39A13):c.1041-5C>G rs765891564 0.00002
NM_001128225.3(SLC39A13):c.302-7C>G rs746687344 0.00002
NM_001128225.3(SLC39A13):c.615C>T (p.Pro205=) rs147495812 0.00002
NM_001128225.3(SLC39A13):c.795C>T (p.Asp265=) rs762829962 0.00002
NM_001999.4(FBN2):c.6G>C (p.Gly2=) rs746567292 0.00002
NM_004370.6(COL12A1):c.1023T>C (p.Ile341=) rs747827698 0.00002
NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe) rs565496900 0.00002
NM_004370.6(COL12A1):c.1429G>A (p.Val477Ile) rs759237307 0.00002
NM_004370.6(COL12A1):c.1458G>A (p.Arg486=) rs560103397 0.00002
NM_004370.6(COL12A1):c.1716T>C (p.Phe572=) rs781239880 0.00002
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys) rs764727126 0.00002
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=) rs201511621 0.00002
NM_004370.6(COL12A1):c.191-11T>C rs765124645 0.00002
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) rs764241362 0.00002
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala) rs755046298 0.00002
NM_004370.6(COL12A1):c.2046G>C (p.Ser682=) rs1039108581 0.00002
NM_004370.6(COL12A1):c.2099A>G (p.Asn700Ser) rs752941721 0.00002
NM_004370.6(COL12A1):c.227C>T (p.Thr76Ile) rs746079159 0.00002
NM_004370.6(COL12A1):c.2418A>G (p.Gly806=) rs776558080 0.00002
NM_004370.6(COL12A1):c.2445G>A (p.Gly815=) rs201021998 0.00002
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala) rs770324764 0.00002
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg) rs761818931 0.00002
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr) rs373583477 0.00002
NM_004370.6(COL12A1):c.2679C>T (p.Asp893=) rs747852589 0.00002
NM_004370.6(COL12A1):c.2706T>G (p.Leu902=) rs765497889 0.00002
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483 0.00002
NM_004370.6(COL12A1):c.3033A>C (p.Thr1011=) rs1424598359 0.00002
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu) rs374540275 0.00002
NM_004370.6(COL12A1):c.3270T>C (p.Pro1090=) rs765327402 0.00002
NM_004370.6(COL12A1):c.3836-19C>G rs762897672 0.00002
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914 0.00002
NM_004370.6(COL12A1):c.3919A>G (p.Ile1307Val) rs749722543 0.00002
NM_004370.6(COL12A1):c.3937C>A (p.Gln1313Lys) rs780568012 0.00002
NM_004370.6(COL12A1):c.4105G>T (p.Asp1369Tyr) rs778970645 0.00002
NM_004370.6(COL12A1):c.4148-4G>A rs146899194 0.00002
NM_004370.6(COL12A1):c.4241G>A (p.Arg1414Gln) rs769711983 0.00002
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His) rs1033545876 0.00002
NM_004370.6(COL12A1):c.4356C>T (p.Val1452=) rs765983584 0.00002
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser) rs1453508139 0.00002
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg) rs771110521 0.00002
NM_004370.6(COL12A1):c.465T>C (p.Asn155=) rs777308349 0.00002
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr) rs772069524 0.00002
NM_004370.6(COL12A1):c.4833G>A (p.Glu1611=) rs369793258 0.00002
NM_004370.6(COL12A1):c.4856C>G (p.Thr1619Ser) rs757815790 0.00002
NM_004370.6(COL12A1):c.4905T>A (p.Ser1635=) rs1262898971 0.00002
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu) rs779002973 0.00002
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys) rs368481619 0.00002
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser) rs752550335 0.00002
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu) rs776561287 0.00002
NM_004370.6(COL12A1):c.5295A>T (p.Thr1765=) rs570972516 0.00002
NM_004370.6(COL12A1):c.5445A>T (p.Pro1815=) rs1249793538 0.00002
NM_004370.6(COL12A1):c.5524+16G>C rs755749812 0.00002
NM_004370.6(COL12A1):c.5625G>A (p.Lys1875=) rs768333048 0.00002
NM_004370.6(COL12A1):c.5646A>T (p.Ala1882=) rs774390819 0.00002
NM_004370.6(COL12A1):c.5673C>G (p.Ile1891Met) rs750550229 0.00002
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg) rs764600940 0.00002
NM_004370.6(COL12A1):c.5850C>T (p.Leu1950=) rs779833436 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.5937+13G>T rs769986889 0.00002
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=) rs200777154 0.00002
NM_004370.6(COL12A1):c.6199A>G (p.Ile2067Val) rs376192452 0.00002
NM_004370.6(COL12A1):c.6394T>C (p.Phe2132Leu) rs769755656 0.00002
NM_004370.6(COL12A1):c.6460+20A>G rs751297089 0.00002
NM_004370.6(COL12A1):c.6597A>G (p.Gln2199=) rs1442019750 0.00002
NM_004370.6(COL12A1):c.6810C>T (p.Val2270=) rs1384590633 0.00002
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176 0.00002
NM_004370.6(COL12A1):c.7087-14A>G rs779399089 0.00002
NM_004370.6(COL12A1):c.7131G>A (p.Lys2377=) rs1344927209 0.00002
NM_004370.6(COL12A1):c.7428T>C (p.Ser2476=) rs777334909 0.00002
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg) rs199633490 0.00002
NM_004370.6(COL12A1):c.7524T>C (p.Cys2508=) rs755597191 0.00002
NM_004370.6(COL12A1):c.8130C>T (p.Cys2710=) rs1768550709 0.00002
NM_004370.6(COL12A1):c.823+10G>A rs1233608917 0.00002
NM_004370.6(COL12A1):c.8238T>C (p.Val2746=) rs555905349 0.00002
NM_004370.6(COL12A1):c.8523+11T>C rs370728186 0.00002
NM_004370.6(COL12A1):c.8523+16C>T rs751486526 0.00002
NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser) rs1226171594 0.00002
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=) rs372700355 0.00002
NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln) rs759065663 0.00002
NM_004370.6(COL12A1):c.8745G>A (p.Leu2915=) rs749317169 0.00002
NM_004370.6(COL12A1):c.8830C>G (p.Pro2944Ala) rs778365596 0.00002
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=) rs767339128 0.00002
NM_004370.6(COL12A1):c.8937A>G (p.Glu2979=) rs372365979 0.00002
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_004370.6(COL12A1):c.9048C>T (p.Ser3016=) rs374037516 0.00002
NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln) rs749005420 0.00002
NM_004370.6(COL12A1):c.971T>G (p.Leu324Arg) rs762612450 0.00002
NM_007255.3(B4GALT7):c.136C>T (p.Leu46=) rs748963969 0.00002
NM_007255.3(B4GALT7):c.468G>A (p.Thr156=) rs775059052 0.00002
NM_013352.4(DSE):c.189G>A (p.Ser63=) rs953029145 0.00002
NM_013352.4(DSE):c.2184G>A (p.Lys728=) rs150939596 0.00002
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly) rs199731077 0.00002
NM_013352.4(DSE):c.2661A>G (p.Thr887=) rs762839207 0.00002
NM_013352.4(DSE):c.2850C>T (p.Tyr950=) rs751986225 0.00002
NM_013352.4(DSE):c.780G>A (p.Ala260=) rs765697282 0.00002
NM_014244.5(ADAMTS2):c.1080C>T (p.His360=) rs777406209 0.00002
NM_014244.5(ADAMTS2):c.1086C>T (p.His362=) rs140784888 0.00002
NM_014244.5(ADAMTS2):c.1382+20C>A rs1057524448 0.00002
NM_014244.5(ADAMTS2):c.140-7G>T rs759954552 0.00002
NM_014244.5(ADAMTS2):c.1632T>C (p.His544=) rs1343776477 0.00002
NM_014244.5(ADAMTS2):c.1707G>A (p.Pro569=) rs749970172 0.00002
NM_014244.5(ADAMTS2):c.2025T>C (p.His675=) rs769344433 0.00002
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=) rs150587776 0.00002
NM_014244.5(ADAMTS2):c.2184G>A (p.Thr728=) rs770111550 0.00002
NM_014244.5(ADAMTS2):c.2343G>A (p.Val781=) rs774384325 0.00002
NM_014244.5(ADAMTS2):c.237G>A (p.Thr79=) rs753133442 0.00002
NM_014244.5(ADAMTS2):c.2397C>T (p.Asp799=) rs753746822 0.00002
NM_014244.5(ADAMTS2):c.241A>C (p.Arg81=) rs936171876 0.00002
NM_014244.5(ADAMTS2):c.2592T>G (p.Ser864=) rs776605625 0.00002
NM_014244.5(ADAMTS2):c.2751-5G>C rs751090751 0.00002
NM_014244.5(ADAMTS2):c.3009C>G (p.Arg1003=) rs1294025373 0.00002
NM_014244.5(ADAMTS2):c.3339C>T (p.His1113=) rs780346183 0.00002
NM_014244.5(ADAMTS2):c.339C>T (p.Val113=) rs143877087 0.00002
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=) rs886060490 0.00002
NM_014244.5(ADAMTS2):c.534+11A>C rs768717695 0.00002
NM_014244.5(ADAMTS2):c.535-5C>T rs772473736 0.00002
NM_014244.5(ADAMTS2):c.678C>G (p.Ala226=) rs766547415 0.00002
NM_014244.5(ADAMTS2):c.690G>A (p.Gly230=) rs138176208 0.00002
NM_014244.5(ADAMTS2):c.804C>T (p.Ile268=) rs200868191 0.00002
NM_017946.4(FKBP14):c.39C>T (p.Phe13=) rs371838963 0.00002
NM_080605.4(B3GALT6):c.252C>T (p.Arg84=) rs933332160 0.00002
NM_080605.4(B3GALT6):c.750G>A (p.Ala250=) rs1200418637 0.00002
NM_080605.4(B3GALT6):c.7C>T (p.Leu3=) rs981250392 0.00002
NM_130468.4(CHST14):c.252C>T (p.Arg84=) rs1377145039 0.00002
NM_130468.4(CHST14):c.861G>A (p.Gln287=) rs772452727 0.00002
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=) rs370529603 0.00001
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) rs766461654 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 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_000089.4(COL1A2):c.1071C>T (p.Ser357=) rs752193830 0.00001
NM_000089.4(COL1A2):c.1113T>C (p.Pro371=) rs547506739 0.00001
NM_000089.4(COL1A2):c.1146C>T (p.Gly382=) rs1397328517 0.00001
NM_000089.4(COL1A2):c.1197+14G>A rs756968679 0.00001
NM_000089.4(COL1A2):c.1198-12A>G rs1292046736 0.00001
NM_000089.4(COL1A2):c.1198-16A>T rs984345878 0.00001
NM_000089.4(COL1A2):c.1198-8T>C rs769888724 0.00001
NM_000089.4(COL1A2):c.1245C>T (p.Gly415=) rs752359132 0.00001
NM_000089.4(COL1A2):c.132+7A>G rs751380636 0.00001
NM_000089.4(COL1A2):c.1350+14T>A rs377624499 0.00001
NM_000089.4(COL1A2):c.1377C>T (p.Ile459=) rs770230919 0.00001
NM_000089.4(COL1A2):c.1419C>T (p.Ile473=) rs543815305 0.00001
NM_000089.4(COL1A2):c.1503+11C>T rs538640615 0.00001
NM_000089.4(COL1A2):c.1503+13A>G rs759564451 0.00001
NM_000089.4(COL1A2):c.1504-19T>G rs746631924 0.00001
NM_000089.4(COL1A2):c.1563T>C (p.Ala521=) rs765688776 0.00001
NM_000089.4(COL1A2):c.1611+9T>A rs200333208 0.00001
NM_000089.4(COL1A2):c.1666-17T>C rs758247671 0.00001
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=) rs1394933873 0.00001
NM_000089.4(COL1A2):c.1719+15T>C rs746176634 0.00001
NM_000089.4(COL1A2):c.1761A>G (p.Pro587=) rs746150563 0.00001
NM_000089.4(COL1A2):c.1764+13T>G rs780458719 0.00001
NM_000089.4(COL1A2):c.1773C>T (p.Arg591=) rs774232044 0.00001
NM_000089.4(COL1A2):c.1971+17A>G rs1057524258 0.00001
NM_000089.4(COL1A2):c.1972-7C>T rs776401729 0.00001
NM_000089.4(COL1A2):c.2026-19G>A rs546549922 0.00001
NM_000089.4(COL1A2):c.2079+8T>C rs745913455 0.00001
NM_000089.4(COL1A2):c.2091G>A (p.Gly697=) rs749221597 0.00001
NM_000089.4(COL1A2):c.2151C>T (p.Val717=) rs763380136 0.00001
NM_000089.4(COL1A2):c.2187+8T>C rs763816519 0.00001
NM_000089.4(COL1A2):c.219C>T (p.Leu73=) rs768467735 0.00001
NM_000089.4(COL1A2):c.225+14C>T rs751435484 0.00001
NM_000089.4(COL1A2):c.2295+15C>T rs1359360545 0.00001
NM_000089.4(COL1A2):c.2296-6A>G rs1004706789 0.00001
NM_000089.4(COL1A2):c.2424T>C (p.Gly808=) rs766541855 0.00001
NM_000089.4(COL1A2):c.2565+7G>A rs368445054 0.00001
NM_000089.4(COL1A2):c.2566-19G>A rs754764745 0.00001
NM_000089.4(COL1A2):c.2622T>C (p.Gly874=) rs769128071 0.00001
NM_000089.4(COL1A2):c.2633C>T (p.Ser878Leu) rs773819922 0.00001
NM_000089.4(COL1A2):c.2634G>A (p.Ser878=) rs762339011 0.00001
NM_000089.4(COL1A2):c.2673+8C>T rs760346992 0.00001
NM_000089.4(COL1A2):c.2781+10A>G rs760431398 0.00001
NM_000089.4(COL1A2):c.2781+13C>G rs193922163 0.00001
NM_000089.4(COL1A2):c.279+12T>C rs751199493 0.00001
NM_000089.4(COL1A2):c.280-7T>C rs750868020 0.00001
NM_000089.4(COL1A2):c.2802T>C (p.Gly934=) rs1379123302 0.00001
NM_000089.4(COL1A2):c.2805C>A (p.Pro935=) rs377577833 0.00001
NM_000089.4(COL1A2):c.2823A>G (p.Gln941=) rs1187487060 0.00001
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_000089.4(COL1A2):c.2868C>T (p.Pro956=) rs141516754 0.00001
NM_000089.4(COL1A2):c.2870T>A (p.Val957Asp) rs374347304 0.00001
NM_000089.4(COL1A2):c.2925T>C (p.His975=) rs754497392 0.00001
NM_000089.4(COL1A2):c.2944-4A>T rs143220941 0.00001
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831 0.00001
NM_000089.4(COL1A2):c.2998-4A>G rs1246541197 0.00001
NM_000089.4(COL1A2):c.300C>T (p.Gly100=) rs751107938 0.00001
NM_000089.4(COL1A2):c.3033C>T (p.Pro1011=) rs780036812 0.00001
NM_000089.4(COL1A2):c.3102C>T (p.Ile1034=) rs768455635 0.00001
NM_000089.4(COL1A2):c.3106-5T>C rs374164023 0.00001
NM_000089.4(COL1A2):c.324+15C>T rs371250316 0.00001
NM_000089.4(COL1A2):c.3282C>T (p.Pro1094=) rs753082771 0.00001
NM_000089.4(COL1A2):c.3303A>G (p.Pro1101=) rs889862814 0.00001
NM_000089.4(COL1A2):c.3369C>T (p.Arg1123=) rs1274009584 0.00001
NM_000089.4(COL1A2):c.3414T>C (p.Thr1138=) rs757889815 0.00001
NM_000089.4(COL1A2):c.3711+20C>A rs555027516 0.00001
NM_000089.4(COL1A2):c.3945T>C (p.Asp1315=) rs993519019 0.00001
NM_000089.4(COL1A2):c.3954+8A>G rs747626670 0.00001
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=) rs781599112 0.00001
NM_000089.4(COL1A2):c.426T>G (p.Gly142=) rs750357212 0.00001
NM_000089.4(COL1A2):c.513T>C (p.Pro171=) rs1204358667 0.00001
NM_000089.4(COL1A2):c.540+17C>A rs759527558 0.00001
NM_000089.4(COL1A2):c.541-19A>G rs750692751 0.00001
NM_000089.4(COL1A2):c.60A>C (p.Ala20=) rs779022418 0.00001
NM_000089.4(COL1A2):c.640-16A>G rs539923265 0.00001
NM_000089.4(COL1A2):c.660T>C (p.Gly220=) rs746887380 0.00001
NM_000089.4(COL1A2):c.693+12C>A rs767990110 0.00001
NM_000089.4(COL1A2):c.720G>A (p.Val240=) rs1419697305 0.00001
NM_000089.4(COL1A2):c.726C>T (p.Pro242=) rs761063195 0.00001
NM_000089.4(COL1A2):c.793-20G>T rs770146997 0.00001
NM_000089.4(COL1A2):c.81+18T>A rs1183435820 0.00001
NM_000089.4(COL1A2):c.81+8A>C rs765118884 0.00001
NM_000089.4(COL1A2):c.816C>T (p.Asn272=) rs1465476385 0.00001
NM_000089.4(COL1A2):c.834C>T (p.Pro278=) rs760482884 0.00001
NM_000089.4(COL1A2):c.879C>G (p.Pro293=) rs780283556 0.00001
NM_000089.4(COL1A2):c.891+7A>T rs1017077909 0.00001
NM_000089.4(COL1A2):c.892-20T>G rs750377261 0.00001
NM_000089.4(COL1A2):c.892-5C>T rs778088746 0.00001
NM_000089.4(COL1A2):c.942T>C (p.Leu314=) rs780887310 0.00001
NM_000089.4(COL1A2):c.963C>T (p.Pro321=) rs147021092 0.00001
NM_000090.4(COL3A1):c.1050+7_1050+8del rs759415640 0.00001
NM_000090.4(COL3A1):c.1080T>C (p.Gly360=) rs1231189635 0.00001
NM_000090.4(COL3A1):c.1150-19C>T rs1259944548 0.00001
NM_000090.4(COL3A1):c.1150-4T>G rs756350810 0.00001
NM_000090.4(COL3A1):c.1194+9T>C rs1244921213 0.00001
NM_000090.4(COL3A1):c.1197T>C (p.Gly399=) rs892020201 0.00001
NM_000090.4(COL3A1):c.1200C>T (p.Pro400=) rs557759394 0.00001
NM_000090.4(COL3A1):c.1294-8T>C rs1226243055 0.00001
NM_000090.4(COL3A1):c.129T>C (p.Asp43=) rs774591764 0.00001
NM_000090.4(COL3A1):c.1338T>A (p.Arg446=) rs1553507953 0.00001
NM_000090.4(COL3A1):c.1348-4T>C rs756811190 0.00001
NM_000090.4(COL3A1):c.1410T>C (p.Pro470=) rs1010477216 0.00001
NM_000090.4(COL3A1):c.1431G>A (p.Gly477=) rs368765585 0.00001
NM_000090.4(COL3A1):c.1437A>G (p.Pro479=) rs1001916364 0.00001
NM_000090.4(COL3A1):c.1455+12A>G rs752647323 0.00001
NM_000090.4(COL3A1):c.1510-17T>C rs768697971 0.00001
NM_000090.4(COL3A1):c.1524G>A (p.Glu508=) rs761742677 0.00001
NM_000090.4(COL3A1):c.1545A>G (p.Ala515=) rs1250297410 0.00001
NM_000090.4(COL3A1):c.1557A>C (p.Gly519=) rs754318905 0.00001
NM_000090.4(COL3A1):c.1581T>C (p.Asp527=) rs890700564 0.00001
NM_000090.4(COL3A1):c.1716A>C (p.Arg572=) rs751916055 0.00001
NM_000090.4(COL3A1):c.1762-17G>A rs768134782 0.00001
NM_000090.4(COL3A1):c.1815+4C>T rs757154607 0.00001
NM_000090.4(COL3A1):c.1816-6T>G rs1474453319 0.00001
NM_000090.4(COL3A1):c.183C>T (p.Leu61=) rs753474870 0.00001
NM_000090.4(COL3A1):c.1857C>G (p.Pro619=) rs769323072 0.00001
NM_000090.4(COL3A1):c.1870-14T>C rs201315795 0.00001
NM_000090.4(COL3A1):c.1872G>A (p.Gly624=) rs372901096 0.00001
NM_000090.4(COL3A1):c.1893C>T (p.Asp631=) rs1171472504 0.00001
NM_000090.4(COL3A1):c.18A>G (p.Gln6=) rs892404442 0.00001
NM_000090.4(COL3A1):c.1924-4C>T rs755814664 0.00001
NM_000090.4(COL3A1):c.1977+15A>G rs1157414171 0.00001
NM_000090.4(COL3A1):c.1977+19T>C rs1688375431 0.00001
NM_000090.4(COL3A1):c.1978-12C>T rs753526966 0.00001
NM_000090.4(COL3A1):c.1978-13G>A rs763906653 0.00001
NM_000090.4(COL3A1):c.2022+12A>G rs745914997 0.00001
NM_000090.4(COL3A1):c.2023-15A>G rs764932588 0.00001
NM_000090.4(COL3A1):c.2043T>C (p.Gly681=) rs768133491 0.00001
NM_000090.4(COL3A1):c.204C>T (p.Asp68=) rs368299739 0.00001
NM_000090.4(COL3A1):c.2121+10C>T rs763630559 0.00001
NM_000090.4(COL3A1):c.219C>T (p.Asp73=) rs886038228 0.00001
NM_000090.4(COL3A1):c.2230-10T>C rs1311894180 0.00001
NM_000090.4(COL3A1):c.2310T>G (p.Pro770=) rs1321267556 0.00001
NM_000090.4(COL3A1):c.2337+16A>G rs759863835 0.00001
NM_000090.4(COL3A1):c.2481A>G (p.Arg827=) rs1355382847 0.00001
NM_000090.4(COL3A1):c.2511C>A (p.Gly837=) rs1157152697 0.00001
NM_000090.4(COL3A1):c.2565T>C (p.Gly855=) rs774245587 0.00001
NM_000090.4(COL3A1):c.258A>C (p.Ala86=) rs775636888 0.00001
NM_000090.4(COL3A1):c.2607+10G>A rs367789349 0.00001
NM_000090.4(COL3A1):c.267A>G (p.Pro89=) rs998965783 0.00001
NM_000090.4(COL3A1):c.2724G>A (p.Ala908=) rs754015151 0.00001
NM_000090.4(COL3A1):c.2766A>C (p.Pro922=) rs915948354 0.00001
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=) rs915948354 0.00001
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys) rs768671254 0.00001
NM_000090.4(COL3A1):c.2904G>A (p.Arg968=) rs780866547 0.00001
NM_000090.4(COL3A1):c.2931+9A>T rs752325298 0.00001
NM_000090.4(COL3A1):c.3040-12T>C rs757034411 0.00001
NM_000090.4(COL3A1):c.3102T>C (p.Arg1034=) rs1399453028 0.00001
NM_000090.4(COL3A1):c.3114C>T (p.Gly1038=) rs982248094 0.00001
NM_000090.4(COL3A1):c.3202-5C>A rs1417576506 0.00001
NM_000090.4(COL3A1):c.3219T>G (p.Ala1073=) rs767247799 0.00001
NM_000090.4(COL3A1):c.3321A>G (p.Gly1107=) rs1364238191 0.00001
NM_000090.4(COL3A1):c.333+15T>C rs764678861 0.00001
NM_000090.4(COL3A1):c.3345A>G (p.Pro1115=) rs1045040851 0.00001
NM_000090.4(COL3A1):c.3363+9A>G rs1286958692 0.00001
NM_000090.4(COL3A1):c.3364-8C>T rs779073034 0.00001
NM_000090.4(COL3A1):c.3418-15A>G rs754815421 0.00001
NM_000090.4(COL3A1):c.3526-10C>T rs376171095 0.00001
NM_000090.4(COL3A1):c.3606C>T (p.Ala1202=) rs755573602 0.00001
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484 0.00001
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=) rs368556405 0.00001
NM_000090.4(COL3A1):c.3824-11T>G rs766096022 0.00001
NM_000090.4(COL3A1):c.3852A>G (p.Gly1284=) rs1332063006 0.00001
NM_000090.4(COL3A1):c.3859T>C (p.Leu1287=) rs770201950 0.00001
NM_000090.4(COL3A1):c.3963T>C (p.Ala1321=) rs1057523548 0.00001
NM_000090.4(COL3A1):c.3975C>T (p.His1325=) rs1167154450 0.00001
NM_000090.4(COL3A1):c.4011+8A>C rs781175426 0.00001
NM_000090.4(COL3A1):c.405T>C (p.Pro135=) rs777238997 0.00001
NM_000090.4(COL3A1):c.4080C>G (p.Leu1360=) rs771682647 0.00001
NM_000090.4(COL3A1):c.414T>G (p.Pro138=) rs1454063115 0.00001
NM_000090.4(COL3A1):c.4174C>T (p.Leu1392=) rs527694833 0.00001
NM_000090.4(COL3A1):c.4224C>T (p.Phe1408=) rs549672243 0.00001
NM_000090.4(COL3A1):c.4257A>G (p.Lys1419=) rs754723643 0.00001
NM_000090.4(COL3A1):c.4284C>A (p.Val1428=) rs746436515 0.00001
NM_000090.4(COL3A1):c.448-19A>G rs370705517 0.00001
NM_000090.4(COL3A1):c.448-5C>T rs372900736 0.00001
NM_000090.4(COL3A1):c.507C>T (p.Leu169=) rs142437505 0.00001
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr) rs374476865 0.00001
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029 0.00001
NM_000090.4(COL3A1):c.531C>A (p.Gly177=) rs41272797 0.00001
NM_000090.4(COL3A1):c.537A>G (p.Pro179=) rs750191923 0.00001
NM_000090.4(COL3A1):c.567T>C (p.Gly189=) rs946410316 0.00001
NM_000090.4(COL3A1):c.582+16G>A rs775731382 0.00001
NM_000090.4(COL3A1):c.621G>A (p.Gly207=) rs779352711 0.00001
NM_000090.4(COL3A1):c.637-15T>C rs747387258 0.00001
NM_000090.4(COL3A1):c.669A>T (p.Pro223=) rs1034042392 0.00001
NM_000090.4(COL3A1):c.690+9T>C rs370451250 0.00001
NM_000090.4(COL3A1):c.691-9T>C rs777795873 0.00001
NM_000090.4(COL3A1):c.744+15T>C rs755509342 0.00001
NM_000090.4(COL3A1):c.745-7T>C rs776306752 0.00001
NM_000090.4(COL3A1):c.747T>C (p.Gly249=) rs1559054631 0.00001
NM_000090.4(COL3A1):c.759A>G (p.Pro253=) rs376198106 0.00001
NM_000090.4(COL3A1):c.79+10T>C rs747389214 0.00001
NM_000090.4(COL3A1):c.792A>G (p.Gly264=) rs113304344 0.00001
NM_000090.4(COL3A1):c.80-8T>C rs1241543816 0.00001
NM_000090.4(COL3A1):c.819A>G (p.Gly273=) rs761106446 0.00001
NM_000090.4(COL3A1):c.84T>C (p.Val28=) rs752574994 0.00001
NM_000090.4(COL3A1):c.853-20C>G rs773768258 0.00001
NM_000090.4(COL3A1):c.891A>C (p.Gly297=) rs751603655 0.00001
NM_000090.4(COL3A1):c.897+10T>C rs375595216 0.00001
NM_000090.4(COL3A1):c.897+16dup rs748754773 0.00001
NM_000090.4(COL3A1):c.945G>A (p.Gly315=) rs372206736 0.00001
NM_000090.4(COL3A1):c.952-18G>A rs996947690 0.00001
NM_000093.5(COL5A1):c.*1260G>A rs557696379 0.00001
NM_000093.5(COL5A1):c.1005C>T (p.Ile335=) rs761397885 0.00001
NM_000093.5(COL5A1):c.1044G>A (p.Thr348=) rs1246095864 0.00001
NM_000093.5(COL5A1):c.1053G>A (p.Pro351=) rs370018361 0.00001
NM_000093.5(COL5A1):c.1067C>T (p.Thr356Ile) rs777844099 0.00001
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) rs561440698 0.00001
NM_000093.5(COL5A1):c.1119G>A (p.Gly373=) rs1060504528 0.00001
NM_000093.5(COL5A1):c.1131C>T (p.Pro377=) rs747058182 0.00001
NM_000093.5(COL5A1):c.1134C>T (p.Thr378=) rs373594322 0.00001
NM_000093.5(COL5A1):c.1140C>T (p.Thr380=) rs749315207 0.00001
NM_000093.5(COL5A1):c.1157C>T (p.Ser386Phe) rs773041897 0.00001
NM_000093.5(COL5A1):c.1175C>T (p.Pro392Leu) rs1290737803 0.00001
NM_000093.5(COL5A1):c.1229G>A (p.Arg410Gln) rs769244075 0.00001
NM_000093.5(COL5A1):c.1230G>A (p.Arg410=) rs1272170006 0.00001
NM_000093.5(COL5A1):c.1239C>T (p.Asp413=) rs775974461 0.00001
NM_000093.5(COL5A1):c.1251C>T (p.Tyr417=) rs746576822 0.00001
NM_000093.5(COL5A1):c.1272C>A (p.Thr424=) rs758427503 0.00001
NM_000093.5(COL5A1):c.1308G>A (p.Ala436=) rs200959477 0.00001
NM_000093.5(COL5A1):c.1333-7C>T rs767294965 0.00001
NM_000093.5(COL5A1):c.1340G>A (p.Gly447Glu) rs753549769 0.00001
NM_000093.5(COL5A1):c.1389+14C>T rs1219979772 0.00001
NM_000093.5(COL5A1):c.1389+7A>T rs1281999280 0.00001
NM_000093.5(COL5A1):c.1390-18C>T rs1323115421 0.00001
NM_000093.5(COL5A1):c.1401C>T (p.Ile467=) rs1452745305 0.00001
NM_000093.5(COL5A1):c.1431+20C>A rs766773815 0.00001
NM_000093.5(COL5A1):c.1497C>T (p.Gly499=) rs1473955537 0.00001
NM_000093.5(COL5A1):c.1570-10A>T rs530036079 0.00001
NM_000093.5(COL5A1):c.1638G>A (p.Ala546=) rs775508023 0.00001
NM_000093.5(COL5A1):c.1657G>A (p.Ala553Thr) rs761717025 0.00001
NM_000093.5(COL5A1):c.1663-10T>C rs767306262 0.00001
NM_000093.5(COL5A1):c.1674G>A (p.Arg558=) rs746502968 0.00001
NM_000093.5(COL5A1):c.1701A>C (p.Thr567=) rs143647239 0.00001
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.1755G>A (p.Pro585=) rs779658584 0.00001
NM_000093.5(COL5A1):c.1761C>T (p.Asp587=) rs974596853 0.00001
NM_000093.5(COL5A1):c.1797G>A (p.Pro599=) rs201463583 0.00001
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253 0.00001
NM_000093.5(COL5A1):c.186C>T (p.Cys62=) rs778516121 0.00001
NM_000093.5(COL5A1):c.1882-4G>T rs1253885983 0.00001
NM_000093.5(COL5A1):c.1936-10C>T rs779506561 0.00001
NM_000093.5(COL5A1):c.1936-15C>G rs755787951 0.00001
NM_000093.5(COL5A1):c.1989+15G>A rs765969450 0.00001
NM_000093.5(COL5A1):c.198A>C (p.Arg66=) rs1463204835 0.00001
NM_000093.5(COL5A1):c.1990-12T>C rs776163211 0.00001
NM_000093.5(COL5A1):c.1995C>T (p.Asp665=) rs765776659 0.00001
NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys) rs764603796 0.00001
NM_000093.5(COL5A1):c.2019G>T (p.Gly673=) rs139822656 0.00001
NM_000093.5(COL5A1):c.2073T>A (p.Gly691=) rs1037184070 0.00001
NM_000093.5(COL5A1):c.2133+9C>T rs765287192 0.00001
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655 0.00001
NM_000093.5(COL5A1):c.2181C>T (p.Gly727=) rs201298716 0.00001
NM_000093.5(COL5A1):c.2188-8C>T rs369789387 0.00001
NM_000093.5(COL5A1):c.2226A>G (p.Gly742=) rs1338817325 0.00001
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=) rs373617798 0.00001
NM_000093.5(COL5A1):c.2282C>T (p.Pro761Leu) rs150434732 0.00001
NM_000093.5(COL5A1):c.2331+11G>A rs753145256 0.00001
NM_000093.5(COL5A1):c.2343C>T (p.Gly781=) rs1384349031 0.00001
NM_000093.5(COL5A1):c.2382C>T (p.Val794=) rs758190171 0.00001
NM_000093.5(COL5A1):c.2385+15C>T rs937874882 0.00001
NM_000093.5(COL5A1):c.2388G>T (p.Gly796=) rs1432407799 0.00001
NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val) rs745370910 0.00001
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.2485-18C>T rs757531928 0.00001
NM_000093.5(COL5A1):c.2538G>A (p.Lys846=) rs751065864 0.00001
NM_000093.5(COL5A1):c.2580C>A (p.Pro860=) rs762553184 0.00001
NM_000093.5(COL5A1):c.2593-14C>G rs771529245 0.00001
NM_000093.5(COL5A1):c.2646+12C>T rs751662116 0.00001
NM_000093.5(COL5A1):c.2649C>T (p.Gly883=) rs770622608 0.00001
NM_000093.5(COL5A1):c.2701-12C>G rs751422216 0.00001
NM_000093.5(COL5A1):c.2739C>T (p.Gly913=) rs1449725761 0.00001
NM_000093.5(COL5A1):c.2746-5T>C rs777834778 0.00001
NM_000093.5(COL5A1):c.277+10G>T rs774861340 0.00001
NM_000093.5(COL5A1):c.277+20G>C rs772363522 0.00001
NM_000093.5(COL5A1):c.2770C>T (p.Arg924Trp) rs1472700264 0.00001
NM_000093.5(COL5A1):c.2784G>A (p.Gly928=) rs774491536 0.00001
NM_000093.5(COL5A1):c.2800-17del rs1168930103 0.00001
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874 0.00001
NM_000093.5(COL5A1):c.2845-11T>C rs769433136 0.00001
NM_000093.5(COL5A1):c.2845-8G>A rs775063630 0.00001
NM_000093.5(COL5A1):c.2847A>T (p.Gly949=) rs898479012 0.00001
NM_000093.5(COL5A1):c.2880T>G (p.Pro960=) rs560755167 0.00001
NM_000093.5(COL5A1):c.2883A>G (p.Gly961=) rs1244102860 0.00001
NM_000093.5(COL5A1):c.2898+20C>T rs781174331 0.00001
NM_000093.5(COL5A1):c.2907A>G (p.Pro969=) rs1281296909 0.00001
NM_000093.5(COL5A1):c.2967G>A (p.Lys989=) rs1838131061 0.00001
NM_000093.5(COL5A1):c.2985C>T (p.Pro995=) rs768883188 0.00001
NM_000093.5(COL5A1):c.2992G>A (p.Val998Met) rs776676564 0.00001
NM_000093.5(COL5A1):c.3006+11G>A rs749946777 0.00001
NM_000093.5(COL5A1):c.3059C>T (p.Pro1020Leu) rs1001786208 0.00001
NM_000093.5(COL5A1):c.3099A>G (p.Gly1033=) rs1016663584 0.00001
NM_000093.5(COL5A1):c.3120C>T (p.Asp1040=) rs1216403908 0.00001
NM_000093.5(COL5A1):c.3167G>A (p.Arg1056His) rs778769810 0.00001
NM_000093.5(COL5A1):c.3235C>T (p.Pro1079Ser) rs763310793 0.00001
NM_000093.5(COL5A1):c.324C>T (p.Ala108=) rs765929345 0.00001
NM_000093.5(COL5A1):c.3294T>C (p.Ala1098=) rs949276689 0.00001
NM_000093.5(COL5A1):c.3299C>T (p.Pro1100Leu) rs564375308 0.00001
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu) rs139039658 0.00001
NM_000093.5(COL5A1):c.3366+11C>T rs863223438 0.00001
NM_000093.5(COL5A1):c.3367-16C>G rs1166753078 0.00001
NM_000093.5(COL5A1):c.3441C>A (p.Gly1147=) rs755982747 0.00001
NM_000093.5(COL5A1):c.3453C>T (p.Pro1151=) rs753485525 0.00001
NM_000093.5(COL5A1):c.3492G>A (p.Pro1164=) rs774312418 0.00001
NM_000093.5(COL5A1):c.3528+15G>A rs541481267 0.00001
NM_000093.5(COL5A1):c.3529-5C>T rs755227263 0.00001
NM_000093.5(COL5A1):c.354C>T (p.Ser118=) rs748711211 0.00001
NM_000093.5(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832 0.00001
NM_000093.5(COL5A1):c.3582+20G>T rs375930756 0.00001
NM_000093.5(COL5A1):c.363C>T (p.Asn121=) rs369180922 0.00001
NM_000093.5(COL5A1):c.3642T>C (p.Asp1214=) rs1351482667 0.00001
NM_000093.5(COL5A1):c.3654A>G (p.Arg1218=) rs1330978908 0.00001
NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=) rs770392149 0.00001
NM_000093.5(COL5A1):c.3733G>A (p.Val1245Met) rs1435045393 0.00001
NM_000093.5(COL5A1):c.3744+12T>G rs750453604 0.00001
NM_000093.5(COL5A1):c.3745-20T>A rs760842092 0.00001
NM_000093.5(COL5A1):c.3771A>G (p.Arg1257=) rs1042269053 0.00001
NM_000093.5(COL5A1):c.3852+10G>A rs749190469 0.00001
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451 0.00001
NM_000093.5(COL5A1):c.3900C>T (p.Gly1300=) rs879205988 0.00001
NM_000093.5(COL5A1):c.3921A>G (p.Glu1307=) rs1322220087 0.00001
NM_000093.5(COL5A1):c.3933G>A (p.Lys1311=) rs1331038066 0.00001
NM_000093.5(COL5A1):c.3961G>A (p.Gly1321Arg) rs1034436638 0.00001
NM_000093.5(COL5A1):c.4011C>T (p.Ser1337=) rs1363178603 0.00001
NM_000093.5(COL5A1):c.4069-4A>G rs377325113 0.00001
NM_000093.5(COL5A1):c.4176+19A>C rs746397034 0.00001
NM_000093.5(COL5A1):c.4177-8T>A rs1838818747 0.00001
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser) rs765217611 0.00001
NM_000093.5(COL5A1):c.4231-10C>T rs772316957 0.00001
NM_000093.5(COL5A1):c.4231-13C>T rs558048358 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000093.5(COL5A1):c.4338+18G>C rs781247782 0.00001
NM_000093.5(COL5A1):c.4351C>G (p.Leu1451Val) rs369740453 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.4392+16C>T rs763448522 0.00001
NM_000093.5(COL5A1):c.4446+16C>T rs1392869887 0.00001
NM_000093.5(COL5A1):c.4507C>T (p.Arg1503Cys) rs200987038 0.00001
NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala) rs1008518818 0.00001
NM_000093.5(COL5A1):c.4554+12G>A rs777162668 0.00001
NM_000093.5(COL5A1):c.4555-8C>T rs1393610396 0.00001
NM_000093.5(COL5A1):c.456C>T (p.Tyr152=) rs1833616245 0.00001
NM_000093.5(COL5A1):c.4578G>A (p.Pro1526=) rs770238710 0.00001
NM_000093.5(COL5A1):c.4596C>T (p.Pro1532=) rs774464652 0.00001
NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=) rs762698462 0.00001
NM_000093.5(COL5A1):c.4644+11T>C rs559588659 0.00001
NM_000093.5(COL5A1):c.4644+16C>T rs376268793 0.00001
NM_000093.5(COL5A1):c.4668G>A (p.Glu1556=) rs1457901052 0.00001
NM_000093.5(COL5A1):c.4749G>A (p.Thr1583=) rs775725420 0.00001
NM_000093.5(COL5A1):c.474C>T (p.Ile158=) rs372769772 0.00001
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881 0.00001
NM_000093.5(COL5A1):c.4783G>A (p.Asp1595Asn) rs748610273 0.00001
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=) rs886063677 0.00001
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu) rs754447923 0.00001
NM_000093.5(COL5A1):c.487G>A (p.Gly163Ser) rs764543567 0.00001
NM_000093.5(COL5A1):c.492-16A>G rs775028310 0.00001
NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr) rs863223461 0.00001
NM_000093.5(COL5A1):c.5028G>T (p.Gly1676=) rs367902089 0.00001
NM_000093.5(COL5A1):c.5033C>G (p.Ser1678Trp) rs145299315 0.00001
NM_000093.5(COL5A1):c.5067+7A>G rs374122742 0.00001
NM_000093.5(COL5A1):c.5068-13G>A rs761059323 0.00001
NM_000093.5(COL5A1):c.5068-9C>T rs572218532 0.00001
NM_000093.5(COL5A1):c.5099C>T (p.Pro1700Leu) rs751699482 0.00001
NM_000093.5(COL5A1):c.5136+17C>T rs765571792 0.00001
NM_000093.5(COL5A1):c.5137-5C>T rs748416238 0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227 0.00001
NM_000093.5(COL5A1):c.5298C>T (p.Phe1766=) rs1231716528 0.00001
NM_000093.5(COL5A1):c.5358G>T (p.Val1786=) rs766205598 0.00001
NM_000093.5(COL5A1):c.5362G>A (p.Gly1788Ser) rs759291514 0.00001
NM_000093.5(COL5A1):c.5370+12G>A rs752141684 0.00001
NM_000093.5(COL5A1):c.540C>A (p.Ile180=) rs374994926 0.00001
NM_000093.5(COL5A1):c.5421G>A (p.Val1807=) rs1245708449 0.00001
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=) rs886063678 0.00001
NM_000093.5(COL5A1):c.543C>T (p.Leu181=) rs368485498 0.00001
NM_000093.5(COL5A1):c.544G>A (p.Asp182Asn) rs761005141 0.00001
NM_000093.5(COL5A1):c.5451C>T (p.Phe1817=) rs748940142 0.00001
NM_000093.5(COL5A1):c.5452A>G (p.Asn1818Asp) rs1251114548 0.00001
NM_000093.5(COL5A1):c.582C>T (p.Ser194=) rs563191799 0.00001
NM_000093.5(COL5A1):c.609C>T (p.Gly203=) rs146054551 0.00001
NM_000093.5(COL5A1):c.610A>G (p.Ile204Val) rs1060502245 0.00001
NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln) rs1382944823 0.00001
NM_000093.5(COL5A1):c.702T>C (p.Tyr234=) rs767696801 0.00001
NM_000093.5(COL5A1):c.723C>T (p.Ser241=) rs1554787555 0.00001
NM_000093.5(COL5A1):c.727G>A (p.Asp243Asn) rs758431206 0.00001
NM_000093.5(COL5A1):c.756A>C (p.Pro252=) rs1030582099 0.00001
NM_000093.5(COL5A1):c.762G>T (p.Ser254=) rs767928508 0.00001
NM_000093.5(COL5A1):c.786+11T>G rs766319028 0.00001
NM_000093.5(COL5A1):c.787-9C>G rs751472921 0.00001
NM_000093.5(COL5A1):c.801C>T (p.Asp267=) rs778401280 0.00001
NM_000093.5(COL5A1):c.825C>T (p.Tyr275=) rs771253587 0.00001
NM_000093.5(COL5A1):c.846C>T (p.Asp282=) rs775736911 0.00001
NM_000093.5(COL5A1):c.849C>T (p.Pro283=) rs761805821 0.00001
NM_000093.5(COL5A1):c.888C>T (p.Pro296=) rs747624704 0.00001
NM_000093.5(COL5A1):c.987G>A (p.Lys329=) rs769516996 0.00001
NM_000302.4(PLOD1):c.1083C>T (p.Ala361=) rs1159010003 0.00001
NM_000302.4(PLOD1):c.1097+10G>A rs562510011 0.00001
NM_000302.4(PLOD1):c.117G>A (p.Glu39=) rs779453447 0.00001
NM_000302.4(PLOD1):c.1202+14G>A rs757830518 0.00001
NM_000302.4(PLOD1):c.1209C>T (p.Val403=) rs1401528073 0.00001
NM_000302.4(PLOD1):c.1299C>T (p.Asp433=) rs886039111 0.00001
NM_000302.4(PLOD1):c.1317G>A (p.Gln439=) rs1334363341 0.00001
NM_000302.4(PLOD1):c.135G>A (p.Lys45=) rs765354146 0.00001
NM_000302.4(PLOD1):c.1461C>T (p.Ile487=) rs746099980 0.00001
NM_000302.4(PLOD1):c.1471-17G>A rs373324035 0.00001
NM_000302.4(PLOD1):c.1471-6C>T rs751904520 0.00001
NM_000302.4(PLOD1):c.1515G>A (p.Leu505=) rs1034116707 0.00001
NM_000302.4(PLOD1):c.1530C>T (p.Ser510=) rs1025133534 0.00001
NM_000302.4(PLOD1):c.1542C>T (p.Thr514=) rs916626462 0.00001
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642 0.00001
NM_000302.4(PLOD1):c.1659G>A (p.Pro553=) rs778242162 0.00001
NM_000302.4(PLOD1):c.169-6C>T rs766073845 0.00001
NM_000302.4(PLOD1):c.1872G>A (p.Thr624=) rs1026914936 0.00001
NM_000302.4(PLOD1):c.1887C>T (p.Pro629=) rs1359830439 0.00001
NM_000302.4(PLOD1):c.1926C>T (p.Val642=) rs763454814 0.00001
NM_000302.4(PLOD1):c.1998C>T (p.Ile666=) rs748080300 0.00001
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387 0.00001
NM_000302.4(PLOD1):c.2172C>T (p.Phe724=) rs1255270684 0.00001
NM_000302.4(PLOD1):c.2175C>T (p.Val725=) rs768818916 0.00001
NM_000302.4(PLOD1):c.246G>A (p.Lys82=) rs1258534388 0.00001
NM_000302.4(PLOD1):c.303-7G>A rs1428437805 0.00001
NM_000302.4(PLOD1):c.309C>T (p.Asp103=) rs750096749 0.00001
NM_000302.4(PLOD1):c.354G>C (p.Arg118=) rs746072884 0.00001
NM_000302.4(PLOD1):c.498A>G (p.Lys166=) rs1290621264 0.00001
NM_000302.4(PLOD1):c.54G>A (p.Ala18=) rs1266038179 0.00001
NM_000302.4(PLOD1):c.562T>C (p.Leu188=) rs967684441 0.00001
NM_000302.4(PLOD1):c.643+13C>A rs1297071034 0.00001
NM_000302.4(PLOD1):c.643+8G>T rs768848010 0.00001
NM_000302.4(PLOD1):c.644-16G>A rs778818723 0.00001
NM_000302.4(PLOD1):c.651C>T (p.Val217=) rs759435283 0.00001
NM_000302.4(PLOD1):c.741+7G>A rs751215041 0.00001
NM_000302.4(PLOD1):c.742-9C>G rs771746998 0.00001
NM_000302.4(PLOD1):c.789C>T (p.Phe263=) rs908800499 0.00001
NM_000302.4(PLOD1):c.844-16G>A rs565657931 0.00001
NM_000302.4(PLOD1):c.846T>C (p.Asp282=) rs755620088 0.00001
NM_000302.4(PLOD1):c.873C>T (p.Gly291=) rs1391173198 0.00001
NM_000302.4(PLOD1):c.894G>A (p.Thr298=) rs763229200 0.00001
NM_000302.4(PLOD1):c.948A>G (p.Lys316=) rs746354303 0.00001
NM_000302.4(PLOD1):c.951C>T (p.His317=) rs770032875 0.00001
NM_000393.5(COL5A2):c.1059+13G>C rs1559093269 0.00001
NM_000393.5(COL5A2):c.1059+15T>C rs772728428 0.00001
NM_000393.5(COL5A2):c.1059+9A>G rs776100559 0.00001
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017 0.00001
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg) rs760117362 0.00001
NM_000393.5(COL5A2):c.1158+14G>A rs1057523022 0.00001
NM_000393.5(COL5A2):c.1159-10A>G rs767892138 0.00001
NM_000393.5(COL5A2):c.1159-13T>C rs756321922 0.00001
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=) rs863223485 0.00001
NM_000393.5(COL5A2):c.1302+9T>C rs1199559237 0.00001
NM_000393.5(COL5A2):c.1365G>A (p.Gln455=) rs1200615943 0.00001
NM_000393.5(COL5A2):c.142T>C (p.Tyr48His) rs750126490 0.00001
NM_000393.5(COL5A2):c.1456-10T>C rs918840882 0.00001
NM_000393.5(COL5A2):c.1527A>C (p.Pro509=) rs202234821 0.00001
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592 0.00001
NM_000393.5(COL5A2):c.1611G>A (p.Gly537=) rs1686117535 0.00001
NM_000393.5(COL5A2):c.1618-17G>A rs1272843185 0.00001
NM_000393.5(COL5A2):c.1618-8C>T rs746841809 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 0.00001
NM_000393.5(COL5A2):c.1698T>G (p.Pro566=) rs1483483512 0.00001
NM_000393.5(COL5A2):c.1704T>C (p.Leu568=) rs776228988 0.00001
NM_000393.5(COL5A2):c.1716+12G>A rs745767713 0.00001
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser) rs544303636 0.00001
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu) rs746458284 0.00001
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744 0.00001
NM_000393.5(COL5A2):c.2031+14C>T rs749030256 0.00001
NM_000393.5(COL5A2):c.2121A>G (p.Leu707=) rs1247190308 0.00001
NM_000393.5(COL5A2):c.2131-16C>T rs1187598016 0.00001
NM_000393.5(COL5A2):c.2131-5G>T rs1219841781 0.00001
NM_000393.5(COL5A2):c.2138G>A (p.Arg713Gln) rs776302656 0.00001
NM_000393.5(COL5A2):c.2229+10A>G rs1269243284 0.00001
NM_000393.5(COL5A2):c.2322C>A (p.Gly774=) rs549187703 0.00001
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003 0.00001
NM_000393.5(COL5A2):c.2392-4A>G rs758314268 0.00001
NM_000393.5(COL5A2):c.2400A>G (p.Pro800=) rs1335810893 0.00001
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379 0.00001
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093 0.00001
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp) rs778544623 0.00001
NM_000393.5(COL5A2):c.2499+18G>T rs1275018864 0.00001
NM_000393.5(COL5A2):c.2500-12G>T rs749087232 0.00001
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn) rs745528957 0.00001
NM_000393.5(COL5A2):c.2511T>C (p.Gly837=) rs1192759045 0.00001
NM_000393.5(COL5A2):c.2554-5T>C rs373495598 0.00001
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met) rs778591411 0.00001
NM_000393.5(COL5A2):c.2623C>T (p.Pro875Ser) rs754389345 0.00001
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr) rs760858324 0.00001
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722 0.00001
NM_000393.5(COL5A2):c.2715+12T>G rs369677461 0.00001
NM_000393.5(COL5A2):c.2715+16G>A rs774654781 0.00001
NM_000393.5(COL5A2):c.2715+18T>G rs781686307 0.00001
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=) rs773825862 0.00001
NM_000393.5(COL5A2):c.2745C>A (p.Gly915=) rs778360315 0.00001
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser) rs1189019903 0.00001
NM_000393.5(COL5A2):c.2808G>T (p.Gly936=) rs141089340 0.00001
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His) rs761988412 0.00001
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282 0.00001
NM_000393.5(COL5A2):c.2940T>C (p.Asp980=) rs1685766903 0.00001
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=) rs757271535 0.00001
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr) rs1354785209 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000393.5(COL5A2):c.2997G>A (p.Gly999=) rs777896102 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.3071C>T (p.Ala1024Val) rs763462242 0.00001
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser) rs187336363 0.00001
NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=) rs769755441 0.00001
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=) rs746246121 0.00001
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys) rs779213867 0.00001
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys) rs539362640 0.00001
NM_000393.5(COL5A2):c.3201+8C>A rs751150447 0.00001
NM_000393.5(COL5A2):c.324T>C (p.Gly108=) rs201881801 0.00001
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=) rs1576490715 0.00001
NM_000393.5(COL5A2):c.3317G>A (p.Arg1106Gln) rs369725456 0.00001
NM_000393.5(COL5A2):c.3330A>G (p.Gly1110=) rs928228342 0.00001
NM_000393.5(COL5A2):c.3336T>A (p.Pro1112=) rs773532298 0.00001
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys) rs886055354 0.00001
NM_000393.5(COL5A2):c.3406C>A (p.Arg1136=) rs754843093 0.00001
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=) rs754108091 0.00001
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=) rs140022057 0.00001
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala) rs863223496 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.3638C>T (p.Pro1213Leu) rs1056466895 0.00001
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926 0.00001
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met) rs762902468 0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223 0.00001
NM_000393.5(COL5A2):c.3877G>T (p.Ala1293Ser) rs766162092 0.00001
NM_000393.5(COL5A2):c.3881G>A (p.Arg1294His) rs150063612 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632 0.00001
NM_000393.5(COL5A2):c.3925+17C>T rs1685506449 0.00001
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys) rs141206016 0.00001
NM_000393.5(COL5A2):c.4089T>G (p.Gly1363=) rs753760854 0.00001
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=) rs755092575 0.00001
NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala) rs370026245 0.00001
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg) rs754932150 0.00001
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp) rs146982082 0.00001
NM_000393.5(COL5A2):c.4353+9T>C rs776352996 0.00001
NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met) rs745935107 0.00001
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys) rs1430667498 0.00001
NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His) rs781760462 0.00001
NM_000393.5(COL5A2):c.4416G>A (p.Leu1472=) rs1193385199 0.00001
NM_000393.5(COL5A2):c.464G>A (p.Arg155His) rs754702218 0.00001
NM_000393.5(COL5A2):c.528T>A (p.Pro176=) rs751404827 0.00001
NM_000393.5(COL5A2):c.536C>T (p.Pro179Leu) rs766179958 0.00001
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073 0.00001
NM_000393.5(COL5A2):c.615G>A (p.Gly205=) rs757199738 0.00001
NM_000393.5(COL5A2):c.687G>A (p.Gln229=) rs1010903537 0.00001
NM_000393.5(COL5A2):c.690+17T>C rs1171215082 0.00001
NM_000393.5(COL5A2):c.690+9C>G rs745863682 0.00001
NM_000393.5(COL5A2):c.691-15T>G rs756189756 0.00001
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser) rs763287143 0.00001
NM_000393.5(COL5A2):c.798+15C>T rs1476791697 0.00001
NM_000393.5(COL5A2):c.878C>T (p.Pro293Leu) rs754230712 0.00001
NM_000393.5(COL5A2):c.961-10T>G rs770126461 0.00001
NM_000393.5(COL5A2):c.969T>C (p.Ala323=) rs781515066 0.00001
NM_001110556.2(FLNA):c.2316C>A (p.Val772=) rs2067723075 0.00001
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=) rs576702857 0.00001
NM_001128225.3(SLC39A13):c.1101G>A (p.Ser367=) rs1404886730 0.00001
NM_001128225.3(SLC39A13):c.249C>T (p.Val83=) rs1314433275 0.00001
NM_001128225.3(SLC39A13):c.302-17G>A rs775872862 0.00001
NM_001128225.3(SLC39A13):c.348A>G (p.Gly116=) rs202080209 0.00001
NM_001128225.3(SLC39A13):c.399G>A (p.Thr133=) rs539165797 0.00001
NM_001128225.3(SLC39A13):c.477C>T (p.Ile159=) rs778348255 0.00001
NM_001128225.3(SLC39A13):c.513C>T (p.Asp171=) rs775273374 0.00001
NM_001128225.3(SLC39A13):c.531C>T (p.Thr177=) rs370685869 0.00001
NM_001128225.3(SLC39A13):c.537+13C>T rs1198805632 0.00001
NM_001128225.3(SLC39A13):c.603G>A (p.Pro201=) rs372236399 0.00001
NM_001128225.3(SLC39A13):c.609A>G (p.Ala203=) rs774755322 0.00001
NM_001128225.3(SLC39A13):c.645+16A>G rs772265206 0.00001
NM_001128225.3(SLC39A13):c.816C>T (p.Ala272=) rs764438635 0.00001
NM_001128225.3(SLC39A13):c.874C>T (p.Leu292=) rs747733289 0.00001
NM_001128225.3(SLC39A13):c.879C>T (p.Gly293=) rs1047022550 0.00001
NM_001128225.3(SLC39A13):c.978C>T (p.Gly326=) rs199818224 0.00001
NM_001128225.3(SLC39A13):c.993C>T (p.Ile331=) rs368704328 0.00001
NM_001367624.2(ZNF469):c.6091G>A (p.Glu2031Lys) rs273585622 0.00001
NM_001367624.2(ZNF469):c.8678C>T (p.Pro2893Leu) rs529013712 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00001
NM_003238.6(TGFB2):c.501G>A (p.Glu167=) rs550789732 0.00001
NM_004370.6(COL12A1):c.1006C>T (p.Pro336Ser) rs375542964 0.00001
NM_004370.6(COL12A1):c.1032A>G (p.Glu344=) rs371748094 0.00001
NM_004370.6(COL12A1):c.1083G>A (p.Val361=) rs373691118 0.00001
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser) rs370952607 0.00001
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=) rs751787368 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1239T>C (p.Ser413=) rs1769468260 0.00001
NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp) rs759184281 0.00001
NM_004370.6(COL12A1):c.1318G>A (p.Asp440Asn) rs563331592 0.00001
NM_004370.6(COL12A1):c.1344C>T (p.Ser448=) rs1004269418 0.00001
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=) rs192004528 0.00001
NM_004370.6(COL12A1):c.1416T>C (p.Ile472=) rs1242358815 0.00001
NM_004370.6(COL12A1):c.1452C>T (p.Tyr484=) rs769824937 0.00001
NM_004370.6(COL12A1):c.1457G>A (p.Arg486Gln) rs768545712 0.00001
NM_004370.6(COL12A1):c.1575T>C (p.Tyr525=) rs748722008 0.00001
NM_004370.6(COL12A1):c.1616G>A (p.Ser539Asn) rs1169546055 0.00001
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr) rs775466928 0.00001
NM_004370.6(COL12A1):c.1761T>C (p.Ile587=) rs1769411353 0.00001
NM_004370.6(COL12A1):c.1772C>G (p.Pro591Arg) rs752633980 0.00001
NM_004370.6(COL12A1):c.177G>A (p.Val59=) rs772158281 0.00001
NM_004370.6(COL12A1):c.1782C>T (p.Thr594=) rs552726593 0.00001
NM_004370.6(COL12A1):c.18C>T (p.Pro6=) rs1427431369 0.00001
NM_004370.6(COL12A1):c.191-12T>C rs772991479 0.00001
NM_004370.6(COL12A1):c.1997A>G (p.Tyr666Cys) rs760872362 0.00001
NM_004370.6(COL12A1):c.200C>G (p.Thr67Ser) rs1436987187 0.00001
NM_004370.6(COL12A1):c.2070C>T (p.Ser690=) rs779972390 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004370.6(COL12A1):c.2109G>A (p.Ala703=) rs759595683 0.00001
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln) rs775023310 0.00001
NM_004370.6(COL12A1):c.2196A>G (p.Thr732=) rs770644269 0.00001
NM_004370.6(COL12A1):c.2288G>A (p.Gly763Glu) rs770965835 0.00001
NM_004370.6(COL12A1):c.2334A>G (p.Thr778=) rs1582185053 0.00001
NM_004370.6(COL12A1):c.2373T>C (p.Ser791=) rs752359605 0.00001
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu) rs772979149 0.00001
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val) rs769631929 0.00001
NM_004370.6(COL12A1):c.2478G>A (p.Thr826=) rs781557444 0.00001
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val) rs770970810 0.00001
NM_004370.6(COL12A1):c.2577C>T (p.Val859=) rs902436577 0.00001
NM_004370.6(COL12A1):c.2632C>T (p.Gln878Ter) rs765303183 0.00001
NM_004370.6(COL12A1):c.2664G>A (p.Ala888=) rs756052823 0.00001
NM_004370.6(COL12A1):c.2739T>C (p.Thr913=) rs1420771479 0.00001
NM_004370.6(COL12A1):c.2787A>T (p.Pro929=) rs780559642 0.00001
NM_004370.6(COL12A1):c.2823A>G (p.Ser941=) rs760141819 0.00001
NM_004370.6(COL12A1):c.2835T>C (p.Asp945=) rs777357134 0.00001
NM_004370.6(COL12A1):c.3009A>G (p.Lys1003=) rs910433493 0.00001
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His) rs752304678 0.00001
NM_004370.6(COL12A1):c.3176C>A (p.Thr1059Asn) rs778135297 0.00001
NM_004370.6(COL12A1):c.334+8C>T rs1359112911 0.00001
NM_004370.6(COL12A1):c.335-16T>C rs1286151975 0.00001
NM_004370.6(COL12A1):c.3374G>A (p.Gly1125Glu) rs1029379585 0.00001
NM_004370.6(COL12A1):c.3396G>A (p.Glu1132=) rs1420617553 0.00001
NM_004370.6(COL12A1):c.3443+10A>T rs1217280037 0.00001
NM_004370.6(COL12A1):c.3443+15C>T rs762336310 0.00001
NM_004370.6(COL12A1):c.3444-8C>T rs765303217 0.00001
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile) rs201542066 0.00001
NM_004370.6(COL12A1):c.3535G>A (p.Asp1179Asn) rs370641424 0.00001
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp) rs746929943 0.00001
NM_004370.6(COL12A1):c.363G>A (p.Val121=) rs559388395 0.00001
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys) rs748277540 0.00001
NM_004370.6(COL12A1):c.3729T>C (p.Tyr1243=) rs374534617 0.00001
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=) rs1210652893 0.00001
NM_004370.6(COL12A1):c.3801A>G (p.Ala1267=) rs770806561 0.00001
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=) rs370675782 0.00001
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys) rs764448554 0.00001
NM_004370.6(COL12A1):c.3872G>A (p.Arg1291Lys) rs1194355123 0.00001
NM_004370.6(COL12A1):c.3921T>C (p.Ile1307=) rs531318332 0.00001
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser) rs1187079906 0.00001
NM_004370.6(COL12A1):c.4023C>T (p.Val1341=) rs751690563 0.00001
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly) rs1295465247 0.00001
NM_004370.6(COL12A1):c.4098G>A (p.Arg1366=) rs771642899 0.00001
NM_004370.6(COL12A1):c.4143T>C (p.Gly1381=) rs1171598389 0.00001
NM_004370.6(COL12A1):c.417T>A (p.Thr139=) rs777652114 0.00001
NM_004370.6(COL12A1):c.424G>A (p.Val142Ile) rs772461470 0.00001
NM_004370.6(COL12A1):c.4288-6C>T rs768371908 0.00001
NM_004370.6(COL12A1):c.42G>A (p.Ala14=) rs758961396 0.00001
NM_004370.6(COL12A1):c.4317A>G (p.Thr1439=) rs749367997 0.00001
NM_004370.6(COL12A1):c.432C>T (p.Leu144=) rs528524927 0.00001
NM_004370.6(COL12A1):c.4359T>C (p.Asn1453=) rs749957138 0.00001
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=) rs761741355 0.00001
NM_004370.6(COL12A1):c.4417+15_4417+19del rs768514093 0.00001
NM_004370.6(COL12A1):c.441C>T (p.Gly147=) rs370007721 0.00001
NM_004370.6(COL12A1):c.4425G>A (p.Val1475=) rs372904002 0.00001
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=) rs1554182178 0.00001
NM_004370.6(COL12A1):c.4476G>A (p.Val1492=) rs1267756642 0.00001
NM_004370.6(COL12A1):c.4560+10G>C rs372490462 0.00001
NM_004370.6(COL12A1):c.4561-15C>T rs777154641 0.00001
NM_004370.6(COL12A1):c.4561-4G>A rs148650016 0.00001
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn) rs76453279 0.00001
NM_004370.6(COL12A1):c.4690+7T>C rs1364868781 0.00001
NM_004370.6(COL12A1):c.4690+8A>T rs760044445 0.00001
NM_004370.6(COL12A1):c.4698A>G (p.Leu1566=) rs1429126907 0.00001
NM_004370.6(COL12A1):c.4737C>T (p.His1579=) rs765450196 0.00001
NM_004370.6(COL12A1):c.4773A>G (p.Gly1591=) rs1464793469 0.00001
NM_004370.6(COL12A1):c.4788T>C (p.Tyr1596=) rs749072028 0.00001
NM_004370.6(COL12A1):c.4796G>A (p.Arg1599Gln) rs781463654 0.00001
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=) rs1025841228 0.00001
NM_004370.6(COL12A1):c.4827+16T>C rs535965773 0.00001
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu) rs754277446 0.00001
NM_004370.6(COL12A1):c.4885T>C (p.Leu1629=) rs767188736 0.00001
NM_004370.6(COL12A1):c.4893A>G (p.Thr1631=) rs1219807352 0.00001
NM_004370.6(COL12A1):c.4899C>T (p.Ser1633=) rs762832336 0.00001
NM_004370.6(COL12A1):c.4957+10G>C rs1172874533 0.00001
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn) rs754587593 0.00001
NM_004370.6(COL12A1):c.5004A>G (p.Ser1668=) rs1301829570 0.00001
NM_004370.6(COL12A1):c.5034A>C (p.Gly1678=) rs757968333 0.00001
NM_004370.6(COL12A1):c.5098-14C>T rs370402417 0.00001
NM_004370.6(COL12A1):c.5098-5C>T rs766762283 0.00001
NM_004370.6(COL12A1):c.515T>C (p.Ile172Thr) rs780886772 0.00001
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=) rs767349975 0.00001
NM_004370.6(COL12A1):c.5252-12A>C rs747721408 0.00001
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467 0.00001
NM_004370.6(COL12A1):c.5373A>T (p.Thr1791=) rs1422128161 0.00001
NM_004370.6(COL12A1):c.5415G>A (p.Gln1805=) rs750914354 0.00001
NM_004370.6(COL12A1):c.5462T>C (p.Ile1821Thr) rs1464239210 0.00001
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu) rs757825778 0.00001
NM_004370.6(COL12A1):c.5614C>T (p.Arg1872Cys) rs773807635 0.00001
NM_004370.6(COL12A1):c.5664+14G>T rs371510068 0.00001
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=) rs200130428 0.00001
NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn) rs759905934 0.00001
NM_004370.6(COL12A1):c.5724A>G (p.Ser1908=) rs369481796 0.00001
NM_004370.6(COL12A1):c.5795-14C>T rs1178311224 0.00001
NM_004370.6(COL12A1):c.5938-7C>T rs1343757913 0.00001
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met) rs768824483 0.00001
NM_004370.6(COL12A1):c.5977C>T (p.Arg1993Trp) rs199501842 0.00001
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu) rs752189896 0.00001
NM_004370.6(COL12A1):c.6003C>T (p.Ser2001=) rs762626921 0.00001
NM_004370.6(COL12A1):c.6105T>A (p.Gly2035=) rs764896298 0.00001
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=) rs1248355913 0.00001
NM_004370.6(COL12A1):c.6116A>G (p.Asn2039Ser) rs202186932 0.00001
NM_004370.6(COL12A1):c.6211-4A>G rs762268779 0.00001
NM_004370.6(COL12A1):c.6340+12G>A rs749187959 0.00001
NM_004370.6(COL12A1):c.6340+19C>T rs1244591730 0.00001
NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe) rs772205982 0.00001
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu) rs186836845 0.00001
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=) rs372703375 0.00001
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys) rs776701367 0.00001
NM_004370.6(COL12A1):c.6561A>G (p.Gln2187=) rs763927693 0.00001
NM_004370.6(COL12A1):c.6627T>C (p.Asp2209=) rs1458129254 0.00001
NM_004370.6(COL12A1):c.6724+13A>G rs757071502 0.00001
NM_004370.6(COL12A1):c.6744T>C (p.Ile2248=) rs1420789055 0.00001
NM_004370.6(COL12A1):c.6774C>T (p.Cys2258=) rs781120781 0.00001
NM_004370.6(COL12A1):c.6837C>T (p.Leu2279=) rs754181144 0.00001
NM_004370.6(COL12A1):c.6891C>T (p.Ala2297=) rs1189256592 0.00001
NM_004370.6(COL12A1):c.6941G>A (p.Arg2314Gln) rs374405599 0.00001
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn) rs772161963 0.00001
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751 0.00001
NM_004370.6(COL12A1):c.7152G>A (p.Lys2384=) rs1227090004 0.00001
NM_004370.6(COL12A1):c.7210+9A>G rs369099620 0.00001
NM_004370.6(COL12A1):c.7224G>A (p.Thr2408=) rs368333381 0.00001
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=) rs776372586 0.00001
NM_004370.6(COL12A1):c.74-19T>C rs564822630 0.00001
NM_004370.6(COL12A1):c.7433G>A (p.Arg2478Gln) rs747410893 0.00001
NM_004370.6(COL12A1):c.7437C>T (p.His2479=) rs775670738 0.00001
NM_004370.6(COL12A1):c.7446T>C (p.Ile2482=) rs745549241 0.00001
NM_004370.6(COL12A1):c.7452C>T (p.Asp2484=) rs778626937 0.00001
NM_004370.6(COL12A1):c.746C>T (p.Thr249Met) rs572216195 0.00001
NM_004370.6(COL12A1):c.7476C>T (p.Ile2492=) rs895079123 0.00001
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511 0.00001
NM_004370.6(COL12A1):c.7485T>A (p.Asn2495Lys) rs777688811 0.00001
NM_004370.6(COL12A1):c.7491T>C (p.Ile2497=) rs1157317368 0.00001
NM_004370.6(COL12A1):c.75T>C (p.Val25=) rs749054316 0.00001
NM_004370.6(COL12A1):c.7722T>C (p.Pro2574=) rs748445921 0.00001
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln) rs200751269 0.00001
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser) rs994920789 0.00001
NM_004370.6(COL12A1):c.7884C>T (p.Gly2628=) rs747657598 0.00001
NM_004370.6(COL12A1):c.7927T>G (p.Leu2643Val) rs199660424 0.00001
NM_004370.6(COL12A1):c.801T>C (p.Val267=) rs781375448 0.00001
NM_004370.6(COL12A1):c.804A>G (p.Gly268=) rs754993343 0.00001
NM_004370.6(COL12A1):c.8097C>T (p.Ala2699=) rs367966608 0.00001
NM_004370.6(COL12A1):c.8100+14T>A rs750417570 0.00001
NM_004370.6(COL12A1):c.8101-16T>C rs757858823 0.00001
NM_004370.6(COL12A1):c.810A>G (p.Glu270=) rs1326391180 0.00001
NM_004370.6(COL12A1):c.8266-10T>C rs377345950 0.00001
NM_004370.6(COL12A1):c.8286T>C (p.Gly2762=) rs780813814 0.00001
NM_004370.6(COL12A1):c.8358C>T (p.Gly2786=) rs767957084 0.00001
NM_004370.6(COL12A1):c.8370T>C (p.Pro2790=) rs553998601 0.00001
NM_004370.6(COL12A1):c.8470-5T>G rs776830409 0.00001
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg) rs779184954 0.00001
NM_004370.6(COL12A1):c.8523+8T>C rs752217139 0.00001
NM_004370.6(COL12A1):c.8577+14G>A rs775776703 0.00001
NM_004370.6(COL12A1):c.8649+7G>A rs1274498192 0.00001
NM_004370.6(COL12A1):c.8671G>A (p.Glu2891Lys) rs1381259753 0.00001
NM_004370.6(COL12A1):c.8743T>C (p.Leu2915=) rs376238729 0.00001
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys) rs778941390 0.00001
NM_004370.6(COL12A1):c.8857G>T (p.Ala2953Ser) rs201760746 0.00001
NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu) rs751306147 0.00001
NM_004370.6(COL12A1):c.912A>G (p.Ala304=) rs767135101 0.00001
NM_004370.6(COL12A1):c.938T>C (p.Ile313Thr) rs774136306 0.00001
NM_004370.6(COL12A1):c.979T>C (p.Leu327=) rs768698427 0.00001
NM_005902.4(SMAD3):c.597C>T (p.Ser199=) rs769225687 0.00001
NM_007255.3(B4GALT7):c.100C>T (p.Leu34=) rs753921062 0.00001
NM_007255.3(B4GALT7):c.15G>A (p.Arg5=) rs778740793 0.00001
NM_007255.3(B4GALT7):c.288A>G (p.Ala96=) rs748595740 0.00001
NM_007255.3(B4GALT7):c.50+13G>T rs746553066 0.00001
NM_007255.3(B4GALT7):c.50+20C>A rs1259555733 0.00001
NM_007255.3(B4GALT7):c.50+9C>T rs1180310359 0.00001
NM_007255.3(B4GALT7):c.51-12C>T rs374904923 0.00001
NM_007255.3(B4GALT7):c.51-15C>A rs750251768 0.00001
NM_007255.3(B4GALT7):c.702C>T (p.Arg234=) rs1768086053 0.00001
NM_007255.3(B4GALT7):c.726T>A (p.Leu242=) rs367964168 0.00001
NM_007255.3(B4GALT7):c.813C>T (p.Ile271=) rs570926723 0.00001
NM_007255.3(B4GALT7):c.879T>C (p.His293=) rs755949684 0.00001
NM_013352.4(DSE):c.1278A>G (p.Ala426=) rs1253141581 0.00001
NM_013352.4(DSE):c.1437C>T (p.Phe479=) rs757356537 0.00001
NM_013352.4(DSE):c.1491C>T (p.Pro497=) rs768130032 0.00001
NM_013352.4(DSE):c.1512A>G (p.Glu504=) rs200018749 0.00001
NM_013352.4(DSE):c.243C>T (p.Ser81=) rs780478969 0.00001
NM_013352.4(DSE):c.2580A>G (p.Leu860=) rs1361177296 0.00001
NM_013352.4(DSE):c.2724C>T (p.Asn908=) rs750711471 0.00001
NM_013352.4(DSE):c.2766T>C (p.Tyr922=) rs148311424 0.00001
NM_013352.4(DSE):c.416+13C>T rs765373035 0.00001
NM_013352.4(DSE):c.670+12C>T rs190922886 0.00001
NM_013352.4(DSE):c.75C>T (p.Thr25=) rs752936676 0.00001
NM_013352.4(DSE):c.864G>A (p.Pro288=) rs780424278 0.00001
NM_013352.4(DSE):c.885A>C (p.Ala295=) rs1444681997 0.00001
NM_013352.4(DSE):c.911-15A>G rs1232495093 0.00001
NM_014244.5(ADAMTS2):c.1068C>T (p.His356=) rs372834434 0.00001
NM_014244.5(ADAMTS2):c.1132+11C>T rs367786616 0.00001
NM_014244.5(ADAMTS2):c.1133-12G>A rs765717511 0.00001
NM_014244.5(ADAMTS2):c.1236C>T (p.His412=) rs375556579 0.00001
NM_014244.5(ADAMTS2):c.1238+15G>T rs756540143 0.00001
NM_014244.5(ADAMTS2):c.1239-4G>A rs922294987 0.00001
NM_014244.5(ADAMTS2):c.1257C>T (p.Asp419=) rs368720430 0.00001
NM_014244.5(ADAMTS2):c.1260G>A (p.Gly420=) rs376231597 0.00001
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=) rs746088783 0.00001
NM_014244.5(ADAMTS2):c.132C>T (p.Asp44=) rs1180118665 0.00001
NM_014244.5(ADAMTS2):c.1377C>T (p.Tyr459=) rs933381749 0.00001
NM_014244.5(ADAMTS2):c.1383-5C>G rs1447276433 0.00001
NM_014244.5(ADAMTS2):c.1398G>C (p.Leu466=) rs200341951 0.00001
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=) rs751565994 0.00001
NM_014244.5(ADAMTS2):c.1419C>T (p.His473=) rs758260638 0.00001
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=) rs374288519 0.00001
NM_014244.5(ADAMTS2):c.1467C>T (p.Asn489=) rs111893309 0.00001
NM_014244.5(ADAMTS2):c.1470G>A (p.Glu490=) rs780547229 0.00001
NM_014244.5(ADAMTS2):c.1492C>T (p.Leu498=) rs1182897591 0.00001
NM_014244.5(ADAMTS2):c.1501A>G (p.Met501Val) rs757394676 0.00001
NM_014244.5(ADAMTS2):c.1516-9G>A rs768309325 0.00001
NM_014244.5(ADAMTS2):c.1527T>C (p.Phe509=) rs770787111 0.00001
NM_014244.5(ADAMTS2):c.1590G>A (p.Lys530=) rs1403889639 0.00001
NM_014244.5(ADAMTS2):c.1683C>T (p.Asp561=) rs368700721 0.00001
NM_014244.5(ADAMTS2):c.1689C>T (p.Ser563=) rs376357664 0.00001
NM_014244.5(ADAMTS2):c.168C>T (p.Arg56=) rs1179722227 0.00001
NM_014244.5(ADAMTS2):c.1785C>T (p.Asn595=) rs749792014 0.00001
NM_014244.5(ADAMTS2):c.1827C>T (p.Leu609=) rs150448689 0.00001
NM_014244.5(ADAMTS2):c.1836C>T (p.Arg612=) rs1763093760 0.00001
NM_014244.5(ADAMTS2):c.1848C>T (p.Pro616=) rs569510744 0.00001
NM_014244.5(ADAMTS2):c.1881C>T (p.Cys627=) rs762965208 0.00001
NM_014244.5(ADAMTS2):c.1894C>T (p.Leu632=) rs1763092530 0.00001
NM_014244.5(ADAMTS2):c.1930C>T (p.Leu644=) rs1450097151 0.00001
NM_014244.5(ADAMTS2):c.1951+18G>A rs1243999996 0.00001
NM_014244.5(ADAMTS2):c.1956G>A (p.Lys652=) rs368354498 0.00001
NM_014244.5(ADAMTS2):c.1998G>A (p.Glu666=) rs548886013 0.00001
NM_014244.5(ADAMTS2):c.2085+18G>A rs555952324 0.00001
NM_014244.5(ADAMTS2):c.2209+9G>T rs1017374804 0.00001
NM_014244.5(ADAMTS2):c.228G>T (p.Ser76=) rs1162154516 0.00001
NM_014244.5(ADAMTS2):c.2290+15C>T rs764259203 0.00001
NM_014244.5(ADAMTS2):c.2355C>T (p.Ser785=) rs771411876 0.00001
NM_014244.5(ADAMTS2):c.2376C>T (p.Gly792=) rs779908624 0.00001
NM_014244.5(ADAMTS2):c.2412G>A (p.Glu804=) rs766422618 0.00001
NM_014244.5(ADAMTS2):c.2415G>A (p.Thr805=) rs1376577676 0.00001
NM_014244.5(ADAMTS2):c.2430C>T (p.Gly810=) rs762314815 0.00001
NM_014244.5(ADAMTS2):c.2436C>T (p.Leu812=) rs1762929607 0.00001
NM_014244.5(ADAMTS2):c.2466G>A (p.Pro822=) rs377085746 0.00001
NM_014244.5(ADAMTS2):c.2487A>C (p.Ser829=) rs201592583 0.00001
NM_014244.5(ADAMTS2):c.2487A>T (p.Ser829=) rs201592583 0.00001
NM_014244.5(ADAMTS2):c.2488C>T (p.Leu830=) rs758515627 0.00001
NM_014244.5(ADAMTS2):c.2529C>T (p.Val843=) rs754467396 0.00001
NM_014244.5(ADAMTS2):c.2559T>C (p.Ser853=) rs772792600 0.00001
NM_014244.5(ADAMTS2):c.2568C>T (p.Tyr856=) rs769226679 0.00001
NM_014244.5(ADAMTS2):c.2617+9G>T rs943437047 0.00001
NM_014244.5(ADAMTS2):c.2661C>T (p.His887=) rs1425874397 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.273G>C (p.Pro91=) rs768036305 0.00001
NM_014244.5(ADAMTS2):c.2750+10C>T rs1045751866 0.00001
NM_014244.5(ADAMTS2):c.2787C>G (p.Thr929=) rs149424876 0.00001
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=) rs557019144 0.00001
NM_014244.5(ADAMTS2):c.2838A>G (p.Leu946=) rs1762831173 0.00001
NM_014244.5(ADAMTS2):c.2841C>T (p.His947=) rs779661341 0.00001
NM_014244.5(ADAMTS2):c.2859C>T (p.Ser953=) rs1273919427 0.00001
NM_014244.5(ADAMTS2):c.2880T>C (p.Asn960=) rs1350390171 0.00001
NM_014244.5(ADAMTS2):c.2883C>T (p.Asp961=) rs370397254 0.00001
NM_014244.5(ADAMTS2):c.2931T>C (p.Gly977=) rs1435384175 0.00001
NM_014244.5(ADAMTS2):c.2946G>T (p.Gly982=) rs771598781 0.00001
NM_014244.5(ADAMTS2):c.2958+14C>T rs755961602 0.00001
NM_014244.5(ADAMTS2):c.2979C>T (p.Asn993=) rs747970179 0.00001
NM_014244.5(ADAMTS2):c.3089-7C>A rs760424301 0.00001
NM_014244.5(ADAMTS2):c.3089-9T>C rs776485241 0.00001
NM_014244.5(ADAMTS2):c.3096C>T (p.Ile1032=) rs1296847536 0.00001
NM_014244.5(ADAMTS2):c.3120C>T (p.Tyr1040=) rs749365337 0.00001
NM_014244.5(ADAMTS2):c.312G>A (p.Glu104=) rs781264319 0.00001
NM_014244.5(ADAMTS2):c.3135G>A (p.Leu1045=) rs753027177 0.00001
NM_014244.5(ADAMTS2):c.3138C>T (p.Ser1046=) rs1164259596 0.00001
NM_014244.5(ADAMTS2):c.3144G>A (p.Pro1048=) rs1036733329 0.00001
NM_014244.5(ADAMTS2):c.3150C>T (p.Pro1050=) rs374907597 0.00001
NM_014244.5(ADAMTS2):c.3156G>A (p.Ser1052=) rs763966576 0.00001
NM_014244.5(ADAMTS2):c.3243C>T (p.Ser1081=) rs1294398330 0.00001
NM_014244.5(ADAMTS2):c.3262C>T (p.Leu1088=) rs960542347 0.00001
NM_014244.5(ADAMTS2):c.3267C>T (p.Cys1089=) rs1172286327 0.00001
NM_014244.5(ADAMTS2):c.3327G>A (p.Pro1109=) rs769116395 0.00001
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=) rs777279065 0.00001
NM_014244.5(ADAMTS2):c.3369C>T (p.Leu1123=) rs372364065 0.00001
NM_014244.5(ADAMTS2):c.3399G>T (p.Arg1133=) rs775974436 0.00001
NM_014244.5(ADAMTS2):c.3414C>A (p.Thr1138=) rs777522306 0.00001
NM_014244.5(ADAMTS2):c.3504T>C (p.His1168=) rs1762617368 0.00001
NM_014244.5(ADAMTS2):c.3609G>A (p.Arg1203=) rs745724759 0.00001
NM_014244.5(ADAMTS2):c.370C>T (p.Leu124=) rs760256504 0.00001
NM_014244.5(ADAMTS2):c.405C>T (p.Ala135=) rs749177926 0.00001
NM_014244.5(ADAMTS2):c.453G>A (p.Leu151=) rs758831916 0.00001
NM_014244.5(ADAMTS2):c.456C>G (p.Leu152=) rs750739595 0.00001
NM_014244.5(ADAMTS2):c.456C>T (p.Leu152=) rs750739595 0.00001
NM_014244.5(ADAMTS2):c.471C>T (p.Tyr157=) rs752433735 0.00001
NM_014244.5(ADAMTS2):c.48G>C (p.Leu16=) rs1342781405 0.00001
NM_014244.5(ADAMTS2):c.535-4G>A rs765017540 0.00001
NM_014244.5(ADAMTS2):c.597G>A (p.Ala199=) rs758074163 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.689-8C>A rs992351765 0.00001
NM_014244.5(ADAMTS2):c.708G>A (p.Leu236=) rs781247753 0.00001
NM_014244.5(ADAMTS2):c.708G>C (p.Leu236=) rs781247753 0.00001
NM_014244.5(ADAMTS2):c.717C>T (p.Leu239=) rs1561805614 0.00001
NM_014244.5(ADAMTS2):c.765G>T (p.Arg255=) rs1764733920 0.00001
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=) rs751895494 0.00001
NM_014244.5(ADAMTS2):c.87G>A (p.Pro29=) rs1300328320 0.00001
NM_014244.5(ADAMTS2):c.894C>T (p.Val298=) rs766163593 0.00001
NM_014244.5(ADAMTS2):c.93G>A (p.Pro31=) rs1326446417 0.00001
NM_014244.5(ADAMTS2):c.975+9A>G rs1581171879 0.00001
NM_014244.5(ADAMTS2):c.990C>T (p.Ile330=) rs543342610 0.00001
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=) rs767485549 0.00001
NM_017946.4(FKBP14):c.174G>A (p.Lys58=) rs1242692107 0.00001
NM_017946.4(FKBP14):c.198-16T>A rs1345590310 0.00001
NM_017946.4(FKBP14):c.333T>C (p.Tyr111=) rs564024029 0.00001
NM_017946.4(FKBP14):c.349+10T>C rs369590377 0.00001
NM_017946.4(FKBP14):c.468T>C (p.Ser156=) rs1273014447 0.00001
NM_017946.4(FKBP14):c.486A>T (p.Ala162=) rs370487182 0.00001
NM_017946.4(FKBP14):c.66C>A (p.Ile22=) rs151294110 0.00001
NM_080605.4(B3GALT6):c.171C>T (p.Ala57=) rs1638537998 0.00001
NM_080605.4(B3GALT6):c.189G>A (p.Val63=) rs1471843111 0.00001
NM_080605.4(B3GALT6):c.234C>T (p.Ser78=) rs1305896128 0.00001
NM_080605.4(B3GALT6):c.291C>T (p.Gly97=) rs1457990186 0.00001
NM_080605.4(B3GALT6):c.354C>T (p.Asp118=) rs767598361 0.00001
NM_080605.4(B3GALT6):c.366G>A (p.Leu122=) rs750669776 0.00001
NM_080605.4(B3GALT6):c.387C>T (p.Tyr129=) rs1402832925 0.00001
NM_080605.4(B3GALT6):c.414C>T (p.Ala138=) rs1489962435 0.00001
NM_080605.4(B3GALT6):c.46C>T (p.Leu16=) rs1057524131 0.00001
NM_080605.4(B3GALT6):c.552C>T (p.Gly184=) rs1256336773 0.00001
NM_080605.4(B3GALT6):c.628C>T (p.Leu210=) rs1300221753 0.00001
NM_080605.4(B3GALT6):c.651C>T (p.Gly217=) rs764901184 0.00001
NM_080605.4(B3GALT6):c.699C>T (p.Asp233=) rs766274999 0.00001
NM_080605.4(B3GALT6):c.703C>T (p.Leu235=) rs764915085 0.00001
NM_080605.4(B3GALT6):c.783C>T (p.Arg261=) rs1031675737 0.00001
NM_080605.4(B3GALT6):c.951G>A (p.Pro317=) rs1441211766 0.00001
NM_080605.4(B3GALT6):c.957G>T (p.Ser319=) rs914725170 0.00001
NM_130468.4(CHST14):c.180C>T (p.Ile60=) rs938393246 0.00001
NM_130468.4(CHST14):c.189C>T (p.Gly63=) rs1398111943 0.00001
NM_130468.4(CHST14):c.198C>G (p.Ala66=) rs1014902072 0.00001
NM_130468.4(CHST14):c.217C>T (p.Leu73=) rs1482604204 0.00001
NM_130468.4(CHST14):c.297C>T (p.Asp99=) rs1328842726 0.00001
NM_130468.4(CHST14):c.378C>G (p.Pro126=) rs752221539 0.00001
NM_130468.4(CHST14):c.45C>G (p.Ala15=) rs1566969002 0.00001
NM_130468.4(CHST14):c.580C>T (p.Leu194=) rs1310579126 0.00001
NM_130468.4(CHST14):c.582G>A (p.Leu194=) rs1377861803 0.00001
NM_130468.4(CHST14):c.642G>A (p.Glu214=) rs146662235 0.00001
NM_130468.4(CHST14):c.732G>C (p.Arg244=) rs1208945086 0.00001
NM_130468.4(CHST14):c.801G>C (p.Leu267=) rs998708059 0.00001
NM_130468.4(CHST14):c.822C>G (p.Arg274=) rs111456654 0.00001
NM_130468.4(CHST14):c.843C>T (p.Pro281=) rs778120798 0.00001
NM_130468.4(CHST14):c.978C>T (p.Ala326=) rs576061822 0.00001
NM_130468.4(CHST14):c.99G>A (p.Gly33=) rs545629118 0.00001
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*681_*682insAGCA rs3840870
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.344G>A (p.Gly115Glu)
NM_000089.4(COL1A2):c.1017T>C (p.Thr339=) rs1584319446
NM_000089.4(COL1A2):c.1029A>G (p.Gly343=) rs2115894389
NM_000089.4(COL1A2):c.1035+14A>T
NM_000089.4(COL1A2):c.1036-14G>T rs114322680
NM_000089.4(COL1A2):c.1036-15T>C
NM_000089.4(COL1A2):c.1036-16C>T
NM_000089.4(COL1A2):c.1036-19G>C
NM_000089.4(COL1A2):c.1036-5C>A
NM_000089.4(COL1A2):c.1041G>A (p.Glu347=) rs1584319702
NM_000089.4(COL1A2):c.1050A>C (p.Pro350=) rs1055249689
NM_000089.4(COL1A2):c.1089+14T>C rs1259284980
NM_000089.4(COL1A2):c.1089+16A>G
NM_000089.4(COL1A2):c.1089+8del rs1791895030
NM_000089.4(COL1A2):c.1090-10C>A rs1454873351
NM_000089.4(COL1A2):c.1090-18G>T
NM_000089.4(COL1A2):c.1090-6A>G rs2115896474
NM_000089.4(COL1A2):c.1101G>A (p.Gly367=) rs1800237
NM_000089.4(COL1A2):c.1107A>G (p.Gln369=) rs776853005
NM_000089.4(COL1A2):c.1134A>G (p.Glu378=)
NM_000089.4(COL1A2):c.114A>G (p.Arg38=) rs1462108134
NM_000089.4(COL1A2):c.1188T>C (p.Pro396=)
NM_000089.4(COL1A2):c.1191G>A (p.Gly397=)
NM_000089.4(COL1A2):c.1197+19C>T
NM_000089.4(COL1A2):c.1251+11T>C
NM_000089.4(COL1A2):c.1251+9T>C
NM_000089.4(COL1A2):c.1252-15T>C rs2115898987
NM_000089.4(COL1A2):c.1252-19T>G
NM_000089.4(COL1A2):c.1252-20T>G rs2115898936
NM_000089.4(COL1A2):c.1252-6G>T
NM_000089.4(COL1A2):c.1252-6del rs886062516
NM_000089.4(COL1A2):c.1252-8_1252-7del rs35587403
NM_000089.4(COL1A2):c.1296A>G (p.Arg432=)
NM_000089.4(COL1A2):c.132+14G>T
NM_000089.4(COL1A2):c.133-17C>T
NM_000089.4(COL1A2):c.133-19C>G
NM_000089.4(COL1A2):c.133-5A>G
NM_000089.4(COL1A2):c.1338C>T (p.Leu446=) rs1213032761
NM_000089.4(COL1A2):c.1350+13C>G
NM_000089.4(COL1A2):c.1351-16C>G
NM_000089.4(COL1A2):c.1351-16C>T
NM_000089.4(COL1A2):c.1351-17C>G
NM_000089.4(COL1A2):c.1351-17C>T
NM_000089.4(COL1A2):c.1351-9A>G
NM_000089.4(COL1A2):c.1371A>G (p.Gly457=) rs2115902719
NM_000089.4(COL1A2):c.1383C>A (p.Pro461=)
NM_000089.4(COL1A2):c.1405-10_1405-9del rs778910090
NM_000089.4(COL1A2):c.1416C>T (p.Gly472=)
NM_000089.4(COL1A2):c.1425C>T (p.Gly475=)
NM_000089.4(COL1A2):c.1434C>A (p.Gly478=) rs756412829
NM_000089.4(COL1A2):c.1443C>G (p.Gly481=) rs757839011
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=) rs412777
NM_000089.4(COL1A2):c.1503+12_1503+14del rs772246319
NM_000089.4(COL1A2):c.1503+20T>C
NM_000089.4(COL1A2):c.1503+5_1503+9dup
NM_000089.4(COL1A2):c.1504-18T>G
NM_000089.4(COL1A2):c.150A>G (p.Pro50=) rs369695645
NM_000089.4(COL1A2):c.1512T>C (p.Pro504=)
NM_000089.4(COL1A2):c.1524T>C (p.Gly508=)
NM_000089.4(COL1A2):c.1555C>A (p.Arg519=)
NM_000089.4(COL1A2):c.1557+11A>G
NM_000089.4(COL1A2):c.1557+12C>T
NM_000089.4(COL1A2):c.1557+8C>T rs1584321985
NM_000089.4(COL1A2):c.1558-7T>C
NM_000089.4(COL1A2):c.159T>C (p.Asp53=) rs201699348
NM_000089.4(COL1A2):c.1611+10T>C rs2115908396
NM_000089.4(COL1A2):c.1611+3_1611+6del
NM_000089.4(COL1A2):c.1612-18C>G
NM_000089.4(COL1A2):c.1612-20C>A
NM_000089.4(COL1A2):c.1612-20C>T
NM_000089.4(COL1A2):c.1612-7C>T
NM_000089.4(COL1A2):c.1612-9C>T
NM_000089.4(COL1A2):c.1644_1645delinsTG (p.Pro549Ala)
NM_000089.4(COL1A2):c.1665+10C>T
NM_000089.4(COL1A2):c.1665+20T>C
NM_000089.4(COL1A2):c.1665+9A>G
NM_000089.4(COL1A2):c.1666-19T>C
NM_000089.4(COL1A2):c.1666-6T>C
NM_000089.4(COL1A2):c.1689C>G (p.Pro563=)
NM_000089.4(COL1A2):c.1689C>T (p.Pro563=)
NM_000089.4(COL1A2):c.1707A>G (p.Lys569=)
NM_000089.4(COL1A2):c.1710A>T (p.Pro570=) rs373341681
NM_000089.4(COL1A2):c.1719+18T>C
NM_000089.4(COL1A2):c.1719+7A>T rs1554396853
NM_000089.4(COL1A2):c.1720-19A>G
NM_000089.4(COL1A2):c.1720-4C>T
NM_000089.4(COL1A2):c.1764+7G>A
NM_000089.4(COL1A2):c.1764+8T>C
NM_000089.4(COL1A2):c.1765-10C>T
NM_000089.4(COL1A2):c.1797T>C (p.Ala599=)
NM_000089.4(COL1A2):c.1800C>T (p.Ala600=)
NM_000089.4(COL1A2):c.180C>A (p.Gly60=)
NM_000089.4(COL1A2):c.180C>T (p.Gly60=) rs756659600
NM_000089.4(COL1A2):c.1842C>A (p.Pro614=) rs931023370
NM_000089.4(COL1A2):c.1854T>C (p.Asp618=)
NM_000089.4(COL1A2):c.1863+11A>G
NM_000089.4(COL1A2):c.1863+12T>C
NM_000089.4(COL1A2):c.1864-16A>G
NM_000089.4(COL1A2):c.1864-18A>G
NM_000089.4(COL1A2):c.1902T>C (p.Gly634=)
NM_000089.4(COL1A2):c.1971+10G>C
NM_000089.4(COL1A2):c.2025+13T>C
NM_000089.4(COL1A2):c.2025+7A>G
NM_000089.4(COL1A2):c.2026-19G>C rs546549922
NM_000089.4(COL1A2):c.2026-20T>C
NM_000089.4(COL1A2):c.2026-5A>G
NM_000089.4(COL1A2):c.2040T>C (p.Ala680=) rs2115927910
NM_000089.4(COL1A2):c.2046T>A (p.Gly682=) rs2115927971
NM_000089.4(COL1A2):c.2079+11A>G
NM_000089.4(COL1A2):c.2079+9G>A
NM_000089.4(COL1A2):c.207C>A (p.Gly69=)
NM_000089.4(COL1A2):c.207C>G (p.Gly69=)
NM_000089.4(COL1A2):c.2080-11T>C rs983048164
NM_000089.4(COL1A2):c.2080-15T>G
NM_000089.4(COL1A2):c.2080-20C>A
NM_000089.4(COL1A2):c.2080-20C>T
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2082C>T (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2088T>A (p.Ala696=)
NM_000089.4(COL1A2):c.2097T>C (p.Ala699=)
NM_000089.4(COL1A2):c.210C>G (p.Pro70=) rs1791665131
NM_000089.4(COL1A2):c.2133+19C>A
NM_000089.4(COL1A2):c.2133+8A>C rs1554397570
NM_000089.4(COL1A2):c.2134-14del
NM_000089.4(COL1A2):c.2134-4C>T
NM_000089.4(COL1A2):c.2134-8C>G rs1792132576
NM_000089.4(COL1A2):c.2145T>G (p.Gly715=)
NM_000089.4(COL1A2):c.2187+13T>G
NM_000089.4(COL1A2):c.2187+15A>G
NM_000089.4(COL1A2):c.2188-11dup
NM_000089.4(COL1A2):c.2188-12T>C
NM_000089.4(COL1A2):c.2188-7C>T
NM_000089.4(COL1A2):c.222T>C (p.Gly74=)
NM_000089.4(COL1A2):c.225+15G>A
NM_000089.4(COL1A2):c.226-16T>C rs542458716
NM_000089.4(COL1A2):c.226-7T>C rs2115865163
NM_000089.4(COL1A2):c.2262T>C (p.Gly754=)
NM_000089.4(COL1A2):c.2277T>C (p.Val759=)
NM_000089.4(COL1A2):c.2280A>G (p.Gly760=)
NM_000089.4(COL1A2):c.2295+15C>G rs1359360545
NM_000089.4(COL1A2):c.2296-9del rs1193169956
NM_000089.4(COL1A2):c.2301A>T (p.Pro767=)
NM_000089.4(COL1A2):c.2313C>A (p.Pro771=)
NM_000089.4(COL1A2):c.2313C>G (p.Pro771=) rs144837722
NM_000089.4(COL1A2):c.2313C>T (p.Pro771=) rs144837722
NM_000089.4(COL1A2):c.2316T>C (p.Gly772=)
NM_000089.4(COL1A2):c.2350-20C>G
NM_000089.4(COL1A2):c.2385T>G (p.Thr795=)
NM_000089.4(COL1A2):c.2403+14T>C
NM_000089.4(COL1A2):c.2403+20C>T
NM_000089.4(COL1A2):c.2406T>C (p.Gly802=) rs1792198032
NM_000089.4(COL1A2):c.2472C>T (p.Asp824=)
NM_000089.4(COL1A2):c.2481A>T (p.Pro827=)
NM_000089.4(COL1A2):c.2508A>G (p.Ala836=) rs563505012
NM_000089.4(COL1A2):c.255A>C (p.Gly85=)
NM_000089.4(COL1A2):c.255A>G (p.Gly85=) rs772309296
NM_000089.4(COL1A2):c.2565+12C>A
NM_000089.4(COL1A2):c.2565+15A>G
NM_000089.4(COL1A2):c.2565+7G>C rs368445054
NM_000089.4(COL1A2):c.2566-10dup
NM_000089.4(COL1A2):c.2566-9T>C
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr) rs150179964
NM_000089.4(COL1A2):c.2595T>C (p.Gly865=)
NM_000089.4(COL1A2):c.2622T>A (p.Gly874=) rs769128071
NM_000089.4(COL1A2):c.2625C>G (p.Leu875=) rs1300787252
NM_000089.4(COL1A2):c.2640T>G (p.Gly880=)
NM_000089.4(COL1A2):c.2652A>G (p.Leu884=) rs767163464
NM_000089.4(COL1A2):c.2673+15G>A
NM_000089.4(COL1A2):c.2673+20C>T rs2115947001
NM_000089.4(COL1A2):c.2673+7G>T
NM_000089.4(COL1A2):c.2673+9T>C rs2115946928
NM_000089.4(COL1A2):c.2674-6G>C rs771442891
NM_000089.4(COL1A2):c.2727T>A (p.Pro909=) rs2115949635
NM_000089.4(COL1A2):c.2739T>G (p.Gly913=)
NM_000089.4(COL1A2):c.2775T>A (p.Gly925=)
NM_000089.4(COL1A2):c.2782-11T>C
NM_000089.4(COL1A2):c.2782-18T>G
NM_000089.4(COL1A2):c.2782-8C>G
NM_000089.4(COL1A2):c.2784C>A (p.Gly928=)
NM_000089.4(COL1A2):c.279+7T>A
NM_000089.4(COL1A2):c.280-16T>C
NM_000089.4(COL1A2):c.280-17A>C
NM_000089.4(COL1A2):c.2832C>T (p.His944=)
NM_000089.4(COL1A2):c.2836-20del
NM_000089.4(COL1A2):c.2841G>A (p.Glu947=) rs1562907108
NM_000089.4(COL1A2):c.2844C>T (p.Arg948=) rs772555004
NM_000089.4(COL1A2):c.285A>G (p.Leu95=) rs918955690
NM_000089.4(COL1A2):c.2865T>C (p.Gly955=)
NM_000089.4(COL1A2):c.2869G>A (p.Val957Ile)
NM_000089.4(COL1A2):c.2913T>C (p.Pro971=) rs2115952533
NM_000089.4(COL1A2):c.2937T>C (p.Gly979=) rs1584329988
NM_000089.4(COL1A2):c.2943+10T>C
NM_000089.4(COL1A2):c.2944-14T>G
NM_000089.4(COL1A2):c.2944-16C>T rs373903050
NM_000089.4(COL1A2):c.2961T>G (p.Val987=) rs1584330108
NM_000089.4(COL1A2):c.2964T>C (p.Gly988=)
NM_000089.4(COL1A2):c.2985A>G (p.Pro995=)
NM_000089.4(COL1A2):c.2997+11G>C
NM_000089.4(COL1A2):c.2998-12G>A
NM_000089.4(COL1A2):c.2998-18C>T
NM_000089.4(COL1A2):c.2998-19T>A rs768118794
NM_000089.4(COL1A2):c.2998-19T>C
NM_000089.4(COL1A2):c.3000C>T (p.Gly1000=) rs1554398439
NM_000089.4(COL1A2):c.3006A>G (p.Gln1002=)
NM_000089.4(COL1A2):c.3009C>T (p.Gly1003=)
NM_000089.4(COL1A2):c.3036T>G (p.Gly1012=)
NM_000089.4(COL1A2):c.306T>C (p.Pro102=)
NM_000089.4(COL1A2):c.3105+16C>A
NM_000089.4(COL1A2):c.3105+16C>T
NM_000089.4(COL1A2):c.3105+8A>G
NM_000089.4(COL1A2):c.3106-10G>A
NM_000089.4(COL1A2):c.3106-14T>C
NM_000089.4(COL1A2):c.3106-16T>C
NM_000089.4(COL1A2):c.3159+15G>A
NM_000089.4(COL1A2):c.3159+8G>A
NM_000089.4(COL1A2):c.3160-19T>C
NM_000089.4(COL1A2):c.3177T>C (p.Ser1059=)
NM_000089.4(COL1A2):c.3207A>G (p.Gly1069=) rs2115957872
NM_000089.4(COL1A2):c.3225A>G (p.Gly1075=) rs756009155
NM_000089.4(COL1A2):c.3228T>C (p.Pro1076=)
NM_000089.4(COL1A2):c.3234C>T (p.Gly1078=)
NM_000089.4(COL1A2):c.324+14G>A
NM_000089.4(COL1A2):c.325-19C>T
NM_000089.4(COL1A2):c.325-20A>G rs2115875469
NM_000089.4(COL1A2):c.325-9T>C
NM_000089.4(COL1A2):c.3268-19C>T
NM_000089.4(COL1A2):c.3270C>T (p.Gly1090=)
NM_000089.4(COL1A2):c.3312C>T (p.Ser1104=)
NM_000089.4(COL1A2):c.3444C>T (p.Thr1148=)
NM_000089.4(COL1A2):c.3453T>G (p.Thr1151=)
NM_000089.4(COL1A2):c.348T>C (p.Pro116=)
NM_000089.4(COL1A2):c.3526+12T>C
NM_000089.4(COL1A2):c.3526+15C>G
NM_000089.4(COL1A2):c.3526+17A>G
NM_000089.4(COL1A2):c.3527-4A>T rs888826541
NM_000089.4(COL1A2):c.3573C>A (p.Ile1191=)
NM_000089.4(COL1A2):c.3612C>T (p.Ile1204=)
NM_000089.4(COL1A2):c.3621A>G (p.Gln1207=) rs2115962565
NM_000089.4(COL1A2):c.3673C>T (p.His1225Tyr) rs535142482
NM_000089.4(COL1A2):c.3678C>T (p.Val1226=)
NM_000089.4(COL1A2):c.36G>C (p.Leu12=) rs1584310252
NM_000089.4(COL1A2):c.3711+10C>A
NM_000089.4(COL1A2):c.3712-7T>C
NM_000089.4(COL1A2):c.3720T>C (p.Tyr1240=)
NM_000089.4(COL1A2):c.3732A>G (p.Gly1244=)
NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr) rs763721360
NM_000089.4(COL1A2):c.3762T>C (p.Leu1254=) rs1584332680
NM_000089.4(COL1A2):c.3774C>T (p.Arg1258=) rs1434722026
NM_000089.4(COL1A2):c.3775C>T (p.Leu1259=)
NM_000089.4(COL1A2):c.3777G>T (p.Leu1259=) rs1314683467
NM_000089.4(COL1A2):c.3783C>T (p.Ala1261=) rs201393190
NM_000089.4(COL1A2):c.379-13C>T
NM_000089.4(COL1A2):c.3856C>T (p.Leu1286=) rs1584332859
NM_000089.4(COL1A2):c.3858G>A (p.Leu1286=)
NM_000089.4(COL1A2):c.3885T>C (p.Ser1295=)
NM_000089.4(COL1A2):c.3897A>G (p.Glu1299=) rs1562908882
NM_000089.4(COL1A2):c.3951C>T (p.Cys1317=)
NM_000089.4(COL1A2):c.3954+15A>T
NM_000089.4(COL1A2):c.3954+17T>C
NM_000089.4(COL1A2):c.3954+8_3954+10del rs1792355337
NM_000089.4(COL1A2):c.3993C>T (p.Tyr1331=) rs1053163831
NM_000089.4(COL1A2):c.4020C>G (p.Pro1340=)
NM_000089.4(COL1A2):c.4020C>T (p.Pro1340=) rs138451009
NM_000089.4(COL1A2):c.402A>C (p.Pro134=)
NM_000089.4(COL1A2):c.4047C>T (p.Ile1349=) rs144133431
NM_000089.4(COL1A2):c.4098A>G (p.Lys1366=)
NM_000089.4(COL1A2):c.432+11A>T
NM_000089.4(COL1A2):c.432+16T>A
NM_000089.4(COL1A2):c.433-10T>C rs1791770493
NM_000089.4(COL1A2):c.433-14G>C rs1465833801
NM_000089.4(COL1A2):c.433-16A>G rs964597288
NM_000089.4(COL1A2):c.433-16A>T
NM_000089.4(COL1A2):c.433-6G>A
NM_000089.4(COL1A2):c.456A>G (p.Arg152=)
NM_000089.4(COL1A2):c.487-11T>C
NM_000089.4(COL1A2):c.487-9_487-7del
NM_000089.4(COL1A2):c.540+19C>G rs764155573
NM_000089.4(COL1A2):c.540+7A>C
NM_000089.4(COL1A2):c.540+8C>T rs1064797337
NM_000089.4(COL1A2):c.540+9A>G
NM_000089.4(COL1A2):c.541-9T>C
NM_000089.4(COL1A2):c.555G>A (p.Leu185=)
NM_000089.4(COL1A2):c.576C>G (p.Pro192=) rs140656978
NM_000089.4(COL1A2):c.576C>T (p.Pro192=)
NM_000089.4(COL1A2):c.594+11A>T
NM_000089.4(COL1A2):c.595-14C>T
NM_000089.4(COL1A2):c.595-5T>C
NM_000089.4(COL1A2):c.597T>C (p.Gly199=)
NM_000089.4(COL1A2):c.612T>G (p.Pro204=) rs2115886810
NM_000089.4(COL1A2):c.621T>C (p.Asn207=)
NM_000089.4(COL1A2):c.681C>G (p.Ala227=) rs1791843396
NM_000089.4(COL1A2):c.694-10T>G
NM_000089.4(COL1A2):c.694-5C>T
NM_000089.4(COL1A2):c.70+18G>A
NM_000089.4(COL1A2):c.70+8C>A
NM_000089.4(COL1A2):c.71-10_71-9insC
NM_000089.4(COL1A2):c.71-11T>C
NM_000089.4(COL1A2):c.738+12C>T
NM_000089.4(COL1A2):c.738+17_738+19del
NM_000089.4(COL1A2):c.739-19C>T
NM_000089.4(COL1A2):c.741T>C (p.Gly247=) rs1584318604
NM_000089.4(COL1A2):c.793-20G>C rs770146997
NM_000089.4(COL1A2):c.793-8T>A
NM_000089.4(COL1A2):c.795T>A (p.Gly265=)
NM_000089.4(COL1A2):c.81+10A>C rs750283092
NM_000089.4(COL1A2):c.81+12T>A
NM_000089.4(COL1A2):c.82-17G>C
NM_000089.4(COL1A2):c.822T>C (p.Gly274=)
NM_000089.4(COL1A2):c.837C>T (p.Ala279=)
NM_000089.4(COL1A2):c.855G>A (p.Val285=)
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe) rs145693444
NM_000089.4(COL1A2):c.885A>G (p.Gly295=)
NM_000089.4(COL1A2):c.888T>G (p.Pro296=) rs1554396039
NM_000089.4(COL1A2):c.891+11A>G
NM_000089.4(COL1A2):c.892-15T>A
NM_000089.4(COL1A2):c.892-4A>G rs749567968
NM_000089.4(COL1A2):c.892-7C>T
NM_000089.4(COL1A2):c.900T>C (p.Pro300=)
NM_000089.4(COL1A2):c.90A>G (p.Val30=) rs766090050
NM_000089.4(COL1A2):c.921T>C (p.Gly307=) rs2115893209
NM_000089.4(COL1A2):c.936+10C>T
NM_000089.4(COL1A2):c.936+15G>A
NM_000089.4(COL1A2):c.937-10T>C
NM_000089.4(COL1A2):c.937-19A>G rs779693879
NM_000089.4(COL1A2):c.96+15C>T
NM_000089.4(COL1A2):c.96+20C>A
NM_000089.4(COL1A2):c.966C>T (p.Gly322=)
NM_000089.4(COL1A2):c.97-11C>A rs1791635232
NM_000089.4(COL1A2):c.97-5T>C
NM_000089.4(COL1A2):c.97-7C>T
NM_000089.4(COL1A2):c.978C>G (p.Pro326=)
NM_000090.4(COL3A1):c.1032T>G (p.Pro344=) rs1688218162
NM_000090.4(COL3A1):c.1050+12T>G
NM_000090.4(COL3A1):c.1050+7A>G rs950435405
NM_000090.4(COL3A1):c.1051-14G>C
NM_000090.4(COL3A1):c.1051-8A>G
NM_000090.4(COL3A1):c.1068A>G (p.Ala356=) rs2153502276
NM_000090.4(COL3A1):c.1086T>C (p.Asn362=) rs1576464711
NM_000090.4(COL3A1):c.1095T>C (p.Pro365=)
NM_000090.4(COL3A1):c.1116A>G (p.Gly372=)
NM_000090.4(COL3A1):c.1149+11T>C
NM_000090.4(COL3A1):c.1149+7A>G rs1688231707
NM_000090.4(COL3A1):c.114C>T (p.Ser38=) rs141241764
NM_000090.4(COL3A1):c.1150-4T>C
NM_000090.4(COL3A1):c.1150-9TA[3]
NM_000090.4(COL3A1):c.1152C>T (p.Gly384=) rs1688243975
NM_000090.4(COL3A1):c.1158T>C (p.Pro386=)
NM_000090.4(COL3A1):c.1161G>A (p.Gly387=) rs2153502344
NM_000090.4(COL3A1):c.1164T>C (p.Ile388=) rs2153502345
NM_000090.4(COL3A1):c.1179T>C (p.Gly393=)
NM_000090.4(COL3A1):c.1194+15C>G
NM_000090.4(COL3A1):c.1194+16T>G
NM_000090.4(COL3A1):c.1195-20T>G
NM_000090.4(COL3A1):c.1195-5C>T
NM_000090.4(COL3A1):c.1197T>A (p.Gly399=)
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1224A>C (p.Gly408=) rs2153502371
NM_000090.4(COL3A1):c.1239G>A (p.Arg413=) rs769162177
NM_000090.4(COL3A1):c.123T>C (p.Asp41=) rs770961095
NM_000090.4(COL3A1):c.1254A>G (p.Pro418=) rs2153502381
NM_000090.4(COL3A1):c.1257C>G (p.Ala419=)
NM_000090.4(COL3A1):c.1281G>A (p.Leu427=) rs750476636
NM_000090.4(COL3A1):c.1293+13G>C
NM_000090.4(COL3A1):c.1293+19T>A
NM_000090.4(COL3A1):c.1294-12G>A
NM_000090.4(COL3A1):c.1294-12G>T
NM_000090.4(COL3A1):c.1294-13del
NM_000090.4(COL3A1):c.1294-8T>A
NM_000090.4(COL3A1):c.1294-8_1294-2dup rs1688258466
NM_000090.4(COL3A1):c.1294-9A>G
NM_000090.4(COL3A1):c.1311T>C (p.Asn437=)
NM_000090.4(COL3A1):c.1329C>A (p.Pro443=) rs527291598
NM_000090.4(COL3A1):c.1329C>T (p.Pro443=) rs527291598
NM_000090.4(COL3A1):c.1335A>G (p.Pro445=) rs1193108024
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.4(COL3A1):c.1347+10A>T
NM_000090.4(COL3A1):c.1347+11C>G rs2153502413
NM_000090.4(COL3A1):c.1348-10T>G rs2153502430
NM_000090.4(COL3A1):c.1348-15T>A
NM_000090.4(COL3A1):c.1348-16del
NM_000090.4(COL3A1):c.1348-5T>C rs2153502431
NM_000090.4(COL3A1):c.1348-8T>A
NM_000090.4(COL3A1):c.1359T>C (p.Gly453=) rs1232746183
NM_000090.4(COL3A1):c.1383A>G (p.Lys461=) rs2153502436
NM_000090.4(COL3A1):c.1386C>T (p.Gly462=)
NM_000090.4(COL3A1):c.1425A>T (p.Ala475=)
NM_000090.4(COL3A1):c.1455+12A>C
NM_000090.4(COL3A1):c.1455+12A>T
NM_000090.4(COL3A1):c.1455+18C>A
NM_000090.4(COL3A1):c.1456-15T>G rs1688273707
NM_000090.4(COL3A1):c.1456-16C>G rs748670622
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=) rs747522483
NM_000090.4(COL3A1):c.1470C>T (p.Phe490=)
NM_000090.4(COL3A1):c.1500A>G (p.Pro500=)
NM_000090.4(COL3A1):c.1509+18C>A
NM_000090.4(COL3A1):c.1509+5A>G rs572863064
NM_000090.4(COL3A1):c.1509+7_1509+21del rs781662866
NM_000090.4(COL3A1):c.1510-10C>T
NM_000090.4(COL3A1):c.1510-12T>C
NM_000090.4(COL3A1):c.1510-4T>C rs529479786
NM_000090.4(COL3A1):c.153A>G (p.Gln51=)
NM_000090.4(COL3A1):c.1548G>A (p.Gly516=) rs765885725
NM_000090.4(COL3A1):c.1587C>T (p.Val529=) rs1688293092
NM_000090.4(COL3A1):c.1602A>C (p.Gly534=)
NM_000090.4(COL3A1):c.1608+12C>T
NM_000090.4(COL3A1):c.1608+13A>G
NM_000090.4(COL3A1):c.1608+20T>G
NM_000090.4(COL3A1):c.1609-14C>G rs1243909889
NM_000090.4(COL3A1):c.1617C>A (p.Pro539=) rs141091206
NM_000090.4(COL3A1):c.1617C>G (p.Pro539=) rs141091206
NM_000090.4(COL3A1):c.1662+16A>C
NM_000090.4(COL3A1):c.1662+20C>A
NM_000090.4(COL3A1):c.1663-13T>G
NM_000090.4(COL3A1):c.1663-15A>C rs2153502677
NM_000090.4(COL3A1):c.1663-19T>A
NM_000090.4(COL3A1):c.1663-19T>C
NM_000090.4(COL3A1):c.1701G>T (p.Gly567=)
NM_000090.4(COL3A1):c.1725T>G (p.Pro575=)
NM_000090.4(COL3A1):c.1728T>G (p.Gly576=)
NM_000090.4(COL3A1):c.1740C>T (p.Phe580=) rs2153502690
NM_000090.4(COL3A1):c.1761+13A>G
NM_000090.4(COL3A1):c.1761+16A>G rs368540657
NM_000090.4(COL3A1):c.1761+7T>A
NM_000090.4(COL3A1):c.1761+8C>T
NM_000090.4(COL3A1):c.1761+9C>G
NM_000090.4(COL3A1):c.1762-11T>G rs761637298
NM_000090.4(COL3A1):c.1762-12C>T
NM_000090.4(COL3A1):c.1762-12CTT[2]
NM_000090.4(COL3A1):c.1762-12CTT[5]
NM_000090.4(COL3A1):c.1762-13A>G rs776161087
NM_000090.4(COL3A1):c.1762-14C>T
NM_000090.4(COL3A1):c.1762-16A>G
NM_000090.4(COL3A1):c.1762-18C>T
NM_000090.4(COL3A1):c.1762-6C>T rs2153502785
NM_000090.4(COL3A1):c.1806T>A (p.Pro602=) rs2153502789
NM_000090.4(COL3A1):c.1816-14G>A rs7579815
NM_000090.4(COL3A1):c.1816-15T>G
NM_000090.4(COL3A1):c.1816-17A>T
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=) rs1576467117
NM_000090.4(COL3A1):c.1860A>G (p.Pro620=) rs141128796
NM_000090.4(COL3A1):c.1869+13A>T
NM_000090.4(COL3A1):c.1869+9A>C
NM_000090.4(COL3A1):c.1870-12A>G rs1231508385
NM_000090.4(COL3A1):c.1870-13_1870-11del rs1312775368
NM_000090.4(COL3A1):c.1870-18A>G rs2153502834
NM_000090.4(COL3A1):c.1870-20G>A
NM_000090.4(COL3A1):c.1870-9C>T rs777339506
NM_000090.4(COL3A1):c.1872G>C (p.Gly624=)
NM_000090.4(COL3A1):c.1905T>C (p.Pro635=)
NM_000090.4(COL3A1):c.1923+9T>C
NM_000090.4(COL3A1):c.1924-14A>T
NM_000090.4(COL3A1):c.1924-8C>A rs1553508534
NM_000090.4(COL3A1):c.1938A>G (p.Thr646=)
NM_000090.4(COL3A1):c.1971G>A (p.Gly657=)
NM_000090.4(COL3A1):c.1974A>G (p.Glu658=)
NM_000090.4(COL3A1):c.1977+16T>A
NM_000090.4(COL3A1):c.1977+7T>C rs2153502908
NM_000090.4(COL3A1):c.1977+9C>G rs184223621
NM_000090.4(COL3A1):c.1978-18A>G
NM_000090.4(COL3A1):c.1978-4C>T
NM_000090.4(COL3A1):c.1980T>C (p.Gly660=) rs1553508597
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2022+10C>G
NM_000090.4(COL3A1):c.2022+10C>T rs774439359
NM_000090.4(COL3A1):c.2022+14T>A
NM_000090.4(COL3A1):c.2022+19del
NM_000090.4(COL3A1):c.2023-17A>C
NM_000090.4(COL3A1):c.2023-17A>G
NM_000090.4(COL3A1):c.2023-4A>G
NM_000090.4(COL3A1):c.2034T>C (p.Gly678=)
NM_000090.4(COL3A1):c.2070G>A (p.Gly690=) rs1337071262
NM_000090.4(COL3A1):c.2085A>G (p.Arg695=)
NM_000090.4(COL3A1):c.2103T>C (p.Pro701=) rs1688401379
NM_000090.4(COL3A1):c.2121+13C>T
NM_000090.4(COL3A1):c.2122-19A>G
NM_000090.4(COL3A1):c.2122-9T>A
NM_000090.4(COL3A1):c.2199T>C (p.Gly733=) rs762547633
NM_000090.4(COL3A1):c.2205A>C (p.Gly735=)
NM_000090.4(COL3A1):c.2229+10T>C
NM_000090.4(COL3A1):c.222C>T (p.Cys74=) rs1688032683
NM_000090.4(COL3A1):c.2230-18T>A
NM_000090.4(COL3A1):c.2230-18T>C
NM_000090.4(COL3A1):c.2230-5G>A rs74458631
NM_000090.4(COL3A1):c.2238A>G (p.Pro746=) rs1311262989
NM_000090.4(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.4(COL3A1):c.2253T>C (p.Ala751=)
NM_000090.4(COL3A1):c.225C>A (p.Pro75=) rs141335164
NM_000090.4(COL3A1):c.2262C>T (p.Val754=)
NM_000090.4(COL3A1):c.2265A>G (p.Pro755=) rs1576468557
NM_000090.4(COL3A1):c.2268G>A (p.Gly756=)
NM_000090.4(COL3A1):c.2283+12C>T
NM_000090.4(COL3A1):c.2283+15T>C
NM_000090.4(COL3A1):c.2283+17A>T
NM_000090.4(COL3A1):c.2283+8T>A
NM_000090.4(COL3A1):c.2283+9T>A
NM_000090.4(COL3A1):c.2284-15T>A
NM_000090.4(COL3A1):c.2284-17A>G
NM_000090.4(COL3A1):c.2284-4C>G rs1576469212
NM_000090.4(COL3A1):c.2298T>G (p.Pro766=) rs1278002435
NM_000090.4(COL3A1):c.2301T>C (p.Ile767=) rs1559059510
NM_000090.4(COL3A1):c.2304T>C (p.Gly768=)
NM_000090.4(COL3A1):c.2319T>C (p.Ala773=) rs2153503232
NM_000090.4(COL3A1):c.2337+15T>C
NM_000090.4(COL3A1):c.2337+7C>A rs1060503874
NM_000090.4(COL3A1):c.2358A>G (p.Gly786=) rs1207914999
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.4(COL3A1):c.2373T>C (p.Ala791=) rs200452382
NM_000090.4(COL3A1):c.2391+12del
NM_000090.4(COL3A1):c.2391+16A>G
NM_000090.4(COL3A1):c.2391+18T>C
NM_000090.4(COL3A1):c.2392-16A>C rs2153503297
NM_000090.4(COL3A1):c.2397G>A (p.Glu799=) rs1338674766
NM_000090.4(COL3A1):c.2403T>C (p.Gly801=)
NM_000090.4(COL3A1):c.2418A>G (p.Pro806=) rs2153503304
NM_000090.4(COL3A1):c.2433C>T (p.Phe811=) rs1688486002
NM_000090.4(COL3A1):c.2436T>C (p.Pro812=) rs1214826179
NM_000090.4(COL3A1):c.2445+14T>G
NM_000090.4(COL3A1):c.2445+15_2445+18del
NM_000090.4(COL3A1):c.2445+19A>G rs776819930
NM_000090.4(COL3A1):c.2446-10T>A
NM_000090.4(COL3A1):c.2446-12T>C
NM_000090.4(COL3A1):c.2457T>C (p.Gly819=) rs2153503369
NM_000090.4(COL3A1):c.2484G>T (p.Gly828=)
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.2490G>C (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.2499A>G (p.Lys833=)
NM_000090.4(COL3A1):c.24G>A (p.Gly8=) rs754759981
NM_000090.4(COL3A1):c.2541T>C (p.Gly847=)
NM_000090.4(COL3A1):c.2544T>C (p.Ser848=)
NM_000090.4(COL3A1):c.2547A>G (p.Gly849=) rs2153503385
NM_000090.4(COL3A1):c.2553+11T>C rs1237495499
NM_000090.4(COL3A1):c.2553+17_2553+22del
NM_000090.4(COL3A1):c.2553+21_2553+22del
NM_000090.4(COL3A1):c.2553+23_2553+26del rs982921278
NM_000090.4(COL3A1):c.2554-10T>C
NM_000090.4(COL3A1):c.2554-11A>G
NM_000090.4(COL3A1):c.2554-14T>A
NM_000090.4(COL3A1):c.2554-6A>T
NM_000090.4(COL3A1):c.258A>T (p.Ala86=) rs775636888
NM_000090.4(COL3A1):c.2601T>C (p.Gly867=)
NM_000090.4(COL3A1):c.2604A>T (p.Gly868=) rs1688516007
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr) rs758992360
NM_000090.4(COL3A1):c.2607+16C>G
NM_000090.4(COL3A1):c.2607+19A>C
NM_000090.4(COL3A1):c.2610T>C (p.Gly870=) rs1474368726
NM_000090.4(COL3A1):c.2622C>T (p.Phe874=)
NM_000090.4(COL3A1):c.2628T>C (p.Gly876=)
NM_000090.4(COL3A1):c.2631T>C (p.Ala877=)
NM_000090.4(COL3A1):c.2661+11G>A
NM_000090.4(COL3A1):c.2661+13T>G
NM_000090.4(COL3A1):c.2661+14A>T
NM_000090.4(COL3A1):c.2661+9T>C
NM_000090.4(COL3A1):c.2662-11A>C
NM_000090.4(COL3A1):c.2662-16A>C
NM_000090.4(COL3A1):c.2662-16A>G
NM_000090.4(COL3A1):c.2662-4G>A
NM_000090.4(COL3A1):c.2662-6T>C rs2153503492
NM_000090.4(COL3A1):c.2685C>T (p.Pro895=)
NM_000090.4(COL3A1):c.2745C>A (p.Gly915=)
NM_000090.4(COL3A1):c.2745C>T (p.Gly915=)
NM_000090.4(COL3A1):c.282+20_282+21del
NM_000090.4(COL3A1):c.282+9A>G rs2153501381
NM_000090.4(COL3A1):c.2823+10T>C
NM_000090.4(COL3A1):c.2824-14A>G
NM_000090.4(COL3A1):c.2824-15C>T
NM_000090.4(COL3A1):c.2824-5A>G rs373994011
NM_000090.4(COL3A1):c.2824-6T>C
NM_000090.4(COL3A1):c.2824-8T>C
NM_000090.4(COL3A1):c.2824-9C>T rs1553509204
NM_000090.4(COL3A1):c.283-10C>T
NM_000090.4(COL3A1):c.283-20_283-17del
NM_000090.4(COL3A1):c.2838A>T (p.Pro946=) rs1576470760
NM_000090.4(COL3A1):c.2841T>C (p.Leu947=) rs1576470766
NM_000090.4(COL3A1):c.2844G>A (p.Gly948=) rs1688537796
NM_000090.4(COL3A1):c.2850T>C (p.Ala950=)
NM_000090.4(COL3A1):c.2862A>T (p.Gly954=) rs1377418572
NM_000090.4(COL3A1):c.2886A>G (p.Pro962=)
NM_000090.4(COL3A1):c.2928C>A (p.Val976=) rs2153503539
NM_000090.4(COL3A1):c.2931+20A>G rs1553509243
NM_000090.4(COL3A1):c.2932-10T>A
NM_000090.4(COL3A1):c.2932-10T>C
NM_000090.4(COL3A1):c.2932-15T>C
NM_000090.4(COL3A1):c.2932-16A>T
NM_000090.4(COL3A1):c.2932-6A>T rs1688561621
NM_000090.4(COL3A1):c.2932-8G>A
NM_000090.4(COL3A1):c.2943G>A (p.Gly981=) rs2153503629
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.4(COL3A1):c.2982C>G (p.Pro994=)
NM_000090.4(COL3A1):c.3006T>C (p.Gly1002=)
NM_000090.4(COL3A1):c.3009G>A (p.Leu1003=)
NM_000090.4(COL3A1):c.3009G>T (p.Leu1003=) rs762167409
NM_000090.4(COL3A1):c.3039+8G>A
NM_000090.4(COL3A1):c.3040-7T>C rs996543982
NM_000090.4(COL3A1):c.3040-8T>G
NM_000090.4(COL3A1):c.3075T>C (p.Asp1025=)
NM_000090.4(COL3A1):c.3093+18G>A
NM_000090.4(COL3A1):c.3093+20A>C
NM_000090.4(COL3A1):c.3094-4A>G
NM_000090.4(COL3A1):c.3094-8G>A
NM_000090.4(COL3A1):c.3126C>T (p.Ala1042=) rs1576471813
NM_000090.4(COL3A1):c.3129T>C (p.Pro1043=)
NM_000090.4(COL3A1):c.3135T>G (p.Ala1045=)
NM_000090.4(COL3A1):c.3141T>A (p.Gly1047=) rs1443252912
NM_000090.4(COL3A1):c.3150C>T (p.Gly1050=)
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.318C>T (p.Gly106=) rs2153501417
NM_000090.4(COL3A1):c.3201+10C>G rs372405344
NM_000090.4(COL3A1):c.3201+10C>T rs372405344
NM_000090.4(COL3A1):c.3201+8C>A rs765137525
NM_000090.4(COL3A1):c.3202-15A>G
NM_000090.4(COL3A1):c.3202-17G>T
NM_000090.4(COL3A1):c.3202-20A>G
NM_000090.4(COL3A1):c.3202-20A>T rs1688597270
NM_000090.4(COL3A1):c.3202-7A>G rs201091810
NM_000090.4(COL3A1):c.321C>T (p.Pro107=)
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=) rs1060503873
NM_000090.4(COL3A1):c.324G>A (p.Lys108=) rs2153501420
NM_000090.4(COL3A1):c.3255+18T>G
NM_000090.4(COL3A1):c.3255+20G>T
NM_000090.4(COL3A1):c.3255+9T>A rs2153503798
NM_000090.4(COL3A1):c.3256-17A>G
NM_000090.4(COL3A1):c.3256-8T>C rs2153503883
NM_000090.4(COL3A1):c.3276T>C (p.Gly1092=) rs2153503890
NM_000090.4(COL3A1):c.3291A>G (p.Thr1097=)
NM_000090.4(COL3A1):c.333+14C>T
NM_000090.4(COL3A1):c.3363+12C>T
NM_000090.4(COL3A1):c.3363+18G>C
NM_000090.4(COL3A1):c.3364-12C>T
NM_000090.4(COL3A1):c.3364-16C>T
NM_000090.4(COL3A1):c.3364-20T>C
NM_000090.4(COL3A1):c.3364-6T>C
NM_000090.4(COL3A1):c.3364-9T>G rs2153503942
NM_000090.4(COL3A1):c.3375T>C (p.Gly1125=) rs1355734194
NM_000090.4(COL3A1):c.3390C>A (p.Ile1130=) rs148918486
NM_000090.4(COL3A1):c.3411C>A (p.Gly1137=)
NM_000090.4(COL3A1):c.3417+17G>C
NM_000090.4(COL3A1):c.3417+18A>G
NM_000090.4(COL3A1):c.3417+7A>G
NM_000090.4(COL3A1):c.3417+9C>A
NM_000090.4(COL3A1):c.3418-19T>C
NM_000090.4(COL3A1):c.3418-4T>C rs1688634628
NM_000090.4(COL3A1):c.3418-9C>T rs2153503964
NM_000090.4(COL3A1):c.3459C>G (p.Thr1153=) rs1576472923
NM_000090.4(COL3A1):c.3465A>G (p.Gly1155=) rs2153503977
NM_000090.4(COL3A1):c.3477C>A (p.Pro1159=)
NM_000090.4(COL3A1):c.3492G>T (p.Gly1164=) rs750595642
NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=) rs546664098
NM_000090.4(COL3A1):c.3522T>A (p.Ser1174=) rs1576472993
NM_000090.4(COL3A1):c.3526-17T>C
NM_000090.4(COL3A1):c.3526-7A>G rs2153504067
NM_000090.4(COL3A1):c.3531C>T (p.Ser1177=) rs1348518346
NM_000090.4(COL3A1):c.3570T>A (p.Pro1190=)
NM_000090.4(COL3A1):c.360T>C (p.Asn120=) rs2153501472
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=) rs35759441
NM_000090.4(COL3A1):c.366C>T (p.Asp122=) rs749038976
NM_000090.4(COL3A1):c.3672A>G (p.Pro1224=) rs1204937173
NM_000090.4(COL3A1):c.3678T>C (p.Asp1226=) rs1688661575
NM_000090.4(COL3A1):c.3693C>T (p.Thr1231=) rs368556405
NM_000090.4(COL3A1):c.3696T>C (p.Asp1232=) rs1332611074
NM_000090.4(COL3A1):c.36T>G (p.Leu12=)
NM_000090.4(COL3A1):c.3702T>C (p.Ile1234=) rs1576473508
NM_000090.4(COL3A1):c.3729A>G (p.Gly1243=)
NM_000090.4(COL3A1):c.3732A>G (p.Gln1244=) rs1688663238
NM_000090.4(COL3A1):c.3753T>C (p.Pro1251=)
NM_000090.4(COL3A1):c.3795G>T (p.Leu1265=)
NM_000090.4(COL3A1):c.3816C>T (p.Leu1272=) rs754340753
NM_000090.4(COL3A1):c.3819G>A (p.Lys1273=) rs1219896056
NM_000090.4(COL3A1):c.3823+10G>C rs2153504121
NM_000090.4(COL3A1):c.3823+11T>C
NM_000090.4(COL3A1):c.3823+13G>A
NM_000090.4(COL3A1):c.3823+15C>T
NM_000090.4(COL3A1):c.3823+16T>G
NM_000090.4(COL3A1):c.3823+17_3823+18del rs2153504125
NM_000090.4(COL3A1):c.3823+8T>C
NM_000090.4(COL3A1):c.3824-13T>C
NM_000090.4(COL3A1):c.3824-18T>C
NM_000090.4(COL3A1):c.3824-6A>C rs751180610
NM_000090.4(COL3A1):c.3831C>T (p.Tyr1277=)
NM_000090.4(COL3A1):c.3852A>T (p.Gly1284=)
NM_000090.4(COL3A1):c.3873G>A (p.Lys1291=) rs1688690801
NM_000090.4(COL3A1):c.3876A>G (p.Val1292=)
NM_000090.4(COL3A1):c.3885T>C (p.Asn1295=)
NM_000090.4(COL3A1):c.390G>T (p.Gly130=) rs771480377
NM_000090.4(COL3A1):c.393C>T (p.Ser131=) rs1688052638
NM_000090.4(COL3A1):c.3957T>C (p.Ser1319=)
NM_000090.4(COL3A1):c.3984T>C (p.Phe1328=) rs749456336
NM_000090.4(COL3A1):c.39C>G (p.Leu13=) rs1343634872
NM_000090.4(COL3A1):c.4011+16C>A
NM_000090.4(COL3A1):c.4011+17del
NM_000090.4(COL3A1):c.4012-11C>A
NM_000090.4(COL3A1):c.4047C>T (p.Val1349=)
NM_000090.4(COL3A1):c.4053T>C (p.Asp1351=) rs1016578152
NM_000090.4(COL3A1):c.4065A>G (p.Ala1355=) rs778893289
NM_000090.4(COL3A1):c.4071T>G (p.Leu1357=) rs1576474355
NM_000090.4(COL3A1):c.408C>G (p.Gly136=) rs762388691
NM_000090.4(COL3A1):c.4131A>C (p.Ala1377=) rs560478513
NM_000090.4(COL3A1):c.414T>C (p.Pro138=)
NM_000090.4(COL3A1):c.4182G>A (p.Gly1394=)
NM_000090.4(COL3A1):c.4194T>C (p.Gly1398=) rs1054676420
NM_000090.4(COL3A1):c.4254+10A>T
NM_000090.4(COL3A1):c.4254+15T>G
NM_000090.4(COL3A1):c.4254+16C>T
NM_000090.4(COL3A1):c.4254+18C>T
NM_000090.4(COL3A1):c.4254+20A>G
NM_000090.4(COL3A1):c.4255-10T>G
NM_000090.4(COL3A1):c.4255-11C>G
NM_000090.4(COL3A1):c.4255-13T>C
NM_000090.4(COL3A1):c.4255-16T>G
NM_000090.4(COL3A1):c.4255-18T>C
NM_000090.4(COL3A1):c.4255-20C>T rs1480528969
NM_000090.4(COL3A1):c.4255-9T>G
NM_000090.4(COL3A1):c.4266G>A (p.Gly1422=) rs1553509998
NM_000090.4(COL3A1):c.4311G>C (p.Val1437=) rs1688730215
NM_000090.4(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.4(COL3A1):c.435T>A (p.Pro145=) rs1060503875
NM_000090.4(COL3A1):c.4365A>G (p.Glu1455=) rs1688732280
NM_000090.4(COL3A1):c.4377C>T (p.Asp1459=) rs754741078
NM_000090.4(COL3A1):c.4392C>T (p.Cys1464=)
NM_000090.4(COL3A1):c.4396T>C (p.Leu1466=)
NM_000090.4(COL3A1):c.447+12dup
NM_000090.4(COL3A1):c.447+7C>A
NM_000090.4(COL3A1):c.448-11C>T rs766622043
NM_000090.4(COL3A1):c.448-17T>C
NM_000090.4(COL3A1):c.448-6C>T
NM_000090.4(COL3A1):c.477T>C (p.Asp159=)
NM_000090.4(COL3A1):c.498A>T (p.Val166=)
NM_000090.4(COL3A1):c.507C>A (p.Leu169=)
NM_000090.4(COL3A1):c.507C>G (p.Leu169=) rs142437505
NM_000090.4(COL3A1):c.529-8C>T
NM_000090.4(COL3A1):c.529-8del
NM_000090.4(COL3A1):c.546C>A (p.Pro182=) rs754584062
NM_000090.4(COL3A1):c.552C>T (p.Pro184=) rs1057521290
NM_000090.4(COL3A1):c.555T>C (p.Pro185=)
NM_000090.4(COL3A1):c.570T>C (p.His190=) rs2153501742
NM_000090.4(COL3A1):c.582+10G>A rs1553507200
NM_000090.4(COL3A1):c.582+14T>C
NM_000090.4(COL3A1):c.582+19G>A
NM_000090.4(COL3A1):c.582+20G>A
NM_000090.4(COL3A1):c.583-11C>T
NM_000090.4(COL3A1):c.583-14A>T
NM_000090.4(COL3A1):c.583-16A>C
NM_000090.4(COL3A1):c.583-7T>C rs886055330
NM_000090.4(COL3A1):c.630T>A (p.Gly210=)
NM_000090.4(COL3A1):c.636+11A>G
NM_000090.4(COL3A1):c.636+12T>C
NM_000090.4(COL3A1):c.636+12_636+15del
NM_000090.4(COL3A1):c.636+17T>A
NM_000090.4(COL3A1):c.637-13T>C
NM_000090.4(COL3A1):c.678T>C (p.Pro226=)
NM_000090.4(COL3A1):c.690+11A>G
NM_000090.4(COL3A1):c.690+12A>G
NM_000090.4(COL3A1):c.690+7T>C rs2153501873
NM_000090.4(COL3A1):c.691-13T>A
NM_000090.4(COL3A1):c.691-15T>C
NM_000090.4(COL3A1):c.691-4C>G
NM_000090.4(COL3A1):c.708C>G (p.Pro236=) rs775390389
NM_000090.4(COL3A1):c.711A>G (p.Gly237=) rs2153501949
NM_000090.4(COL3A1):c.729A>G (p.Gly243=)
NM_000090.4(COL3A1):c.744+10C>T
NM_000090.4(COL3A1):c.744+20T>C
NM_000090.4(COL3A1):c.745-18T>G
NM_000090.4(COL3A1):c.79+16T>C rs2153500033
NM_000090.4(COL3A1):c.798+14C>T
NM_000090.4(COL3A1):c.798+8G>C
NM_000090.4(COL3A1):c.799-14T>C
NM_000090.4(COL3A1):c.80-14_80-6dup
NM_000090.4(COL3A1):c.80-18A>T rs1483636821
NM_000090.4(COL3A1):c.80-9G>C
NM_000090.4(COL3A1):c.840T>A (p.Ala280=) rs1576463659
NM_000090.4(COL3A1):c.852+16A>T
NM_000090.4(COL3A1):c.852+19C>A
NM_000090.4(COL3A1):c.852+20A>G rs1319479140
NM_000090.4(COL3A1):c.852+20A>T
NM_000090.4(COL3A1):c.853-19A>G
NM_000090.4(COL3A1):c.873C>A (p.Gly291=) rs138569287
NM_000090.4(COL3A1):c.873C>G (p.Gly291=)
NM_000090.4(COL3A1):c.876A>G (p.Glu292=)
NM_000090.4(COL3A1):c.87A>G (p.Glu29=)
NM_000090.4(COL3A1):c.897+12T>A
NM_000090.4(COL3A1):c.897+15T>G
NM_000090.4(COL3A1):c.897+17T>C
NM_000090.4(COL3A1):c.897+20A>G
NM_000090.4(COL3A1):c.897+20del
NM_000090.4(COL3A1):c.898-19T>C
NM_000090.4(COL3A1):c.898-4G>T
NM_000090.4(COL3A1):c.898-8C>T rs766564882
NM_000090.4(COL3A1):c.915T>G (p.Pro305=) rs2153502119
NM_000090.4(COL3A1):c.951+10G>C
NM_000090.4(COL3A1):c.951+18C>T
NM_000090.4(COL3A1):c.951+19A>T
NM_000090.4(COL3A1):c.952-14A>C rs2153502162
NM_000090.4(COL3A1):c.952-6T>C rs1576464133
NM_000090.4(COL3A1):c.963T>C (p.Gly321=) rs771292385
NM_000090.4(COL3A1):c.972T>C (p.Gly324=) rs2153502169
NM_000090.4(COL3A1):c.981C>G (p.Gly327=)
NM_000090.4(COL3A1):c.996+10T>A rs369957068
NM_000090.4(COL3A1):c.996+10T>C rs369957068
NM_000090.4(COL3A1):c.996+13C>T
NM_000090.4(COL3A1):c.997-15A>G
NM_000090.4(COL3A1):c.997-4T>G rs2153502225
NM_000090.4(COL3A1):c.997-8T>C rs2153502224
NM_000090.4(COL3A1):c.997-9T>A rs1278617595
NM_000093.5(COL5A1):c.*1653dup rs541530510
NM_000093.5(COL5A1):c.*1807G>C rs374715103
NM_000093.5(COL5A1):c.*948C>G rs142032213
NM_000093.5(COL5A1):c.1006G>A (p.Gly336Arg)
NM_000093.5(COL5A1):c.1008G>A (p.Gly336=) rs2132639237
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met) rs1339426358
NM_000093.5(COL5A1):c.1044G>T (p.Thr348=) rs1246095864
NM_000093.5(COL5A1):c.1057G>C (p.Asp353His)
NM_000093.5(COL5A1):c.1063C>T (p.Leu355Phe)
NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe)
NM_000093.5(COL5A1):c.1089C>T (p.Asn363=)
NM_000093.5(COL5A1):c.109+10C>A rs2132455152
NM_000093.5(COL5A1):c.109+10C>T rs2132455152
NM_000093.5(COL5A1):c.109+11C>G
NM_000093.5(COL5A1):c.109+14G>A rs1831318716
NM_000093.5(COL5A1):c.109+16G>A
NM_000093.5(COL5A1):c.109+18C>A
NM_000093.5(COL5A1):c.109+7G>A rs1429209325
NM_000093.5(COL5A1):c.1092C>A (p.Pro364=)
NM_000093.5(COL5A1):c.110-10G>A rs746555918
NM_000093.5(COL5A1):c.110-14C>T
NM_000093.5(COL5A1):c.1114G>T (p.Ala372Ser) rs755289850
NM_000093.5(COL5A1):c.1115C>A (p.Ala372Asp) rs201829822
NM_000093.5(COL5A1):c.1122C>G (p.Ala374=) rs758640551
NM_000093.5(COL5A1):c.1164+13C>A rs1298341224
NM_000093.5(COL5A1):c.1164+19A>G rs1207484470
NM_000093.5(COL5A1):c.1164+19A>T
NM_000093.5(COL5A1):c.1164+8del
NM_000093.5(COL5A1):c.1165-11T>C
NM_000093.5(COL5A1):c.1165-14dup
NM_000093.5(COL5A1):c.1165-20G>A
NM_000093.5(COL5A1):c.1170T>G (p.Ala390=) rs1588480757
NM_000093.5(COL5A1):c.1191G>A (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1224G>T (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1271C>G (p.Thr424Ser) rs752619850
NM_000093.5(COL5A1):c.127C>T (p.Leu43=) rs2132550837
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=) rs572136244
NM_000093.5(COL5A1):c.1296G>A (p.Pro432=)
NM_000093.5(COL5A1):c.1305G>A (p.Pro435=)
NM_000093.5(COL5A1):c.1322T>C (p.Ile441Thr)
NM_000093.5(COL5A1):c.1332+7G>A rs1834886446
NM_000093.5(COL5A1):c.1333-11A>T
NM_000093.5(COL5A1):c.1333-20C>T
NM_000093.5(COL5A1):c.1333-8A>C rs145620416
NM_000093.5(COL5A1):c.1356A>G (p.Lys452=)
NM_000093.5(COL5A1):c.1374A>G (p.Pro458=)
NM_000093.5(COL5A1):c.1377G>A (p.Ala459=) rs746091599
NM_000093.5(COL5A1):c.1384G>A (p.Glu462Lys) rs761770226
NM_000093.5(COL5A1):c.1389+10T>C rs2132643477
NM_000093.5(COL5A1):c.1389+15T>C
NM_000093.5(COL5A1):c.1389+17A>T rs1298311702
NM_000093.5(COL5A1):c.1389+8C>G
NM_000093.5(COL5A1):c.1390-14C>G
NM_000093.5(COL5A1):c.1390-14C>T rs750785912
NM_000093.5(COL5A1):c.1390-17T>C
NM_000093.5(COL5A1):c.1390-6C>T rs1381061693
NM_000093.5(COL5A1):c.1402G>C (p.Glu468Gln)
NM_000093.5(COL5A1):c.1407C>T (p.Gly469=)
NM_000093.5(COL5A1):c.1410G>A (p.Pro470=) rs148389741
NM_000093.5(COL5A1):c.1410G>C (p.Pro470=) rs148389741
NM_000093.5(COL5A1):c.1431+16del rs2132655351
NM_000093.5(COL5A1):c.1432-18C>T rs761261485
NM_000093.5(COL5A1):c.1432-8A>G
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu) rs565329216
NM_000093.5(COL5A1):c.1464C>T (p.Pro488=) rs1835195730
NM_000093.5(COL5A1):c.1470C>T (p.Gly490=) rs2132655989
NM_000093.5(COL5A1):c.1495-6C>T
NM_000093.5(COL5A1):c.1495-7T>A rs1835738568
NM_000093.5(COL5A1):c.1521T>G (p.Pro507=) rs1835740030
NM_000093.5(COL5A1):c.1548A>G (p.Pro516=)
NM_000093.5(COL5A1):c.1569+10dup rs1394440955
NM_000093.5(COL5A1):c.1569+15C>G
NM_000093.5(COL5A1):c.1570-10dup
NM_000093.5(COL5A1):c.1570-9C>T rs548393414
NM_000093.5(COL5A1):c.1573C>T (p.Arg525Trp)
NM_000093.5(COL5A1):c.1578T>C (p.Phe526=) rs1835749798
NM_000093.5(COL5A1):c.1581A>G (p.Gly527=) rs547134376
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.5(COL5A1):c.1596G>T (p.Ala532=)
NM_000093.5(COL5A1):c.15C>A (p.Thr5=)
NM_000093.5(COL5A1):c.1617C>T (p.Val539=)
NM_000093.5(COL5A1):c.1620A>C (p.Ser540=) rs1033262221
NM_000093.5(COL5A1):c.162A>G (p.Gly54=)
NM_000093.5(COL5A1):c.1631C>T (p.Ser544Phe)
NM_000093.5(COL5A1):c.1638G>T (p.Ala546=) rs775508023
NM_000093.5(COL5A1):c.1650C>T (p.Leu550=)
NM_000093.5(COL5A1):c.1662+11C>T rs2132683374
NM_000093.5(COL5A1):c.1662+15_1662+22dup
NM_000093.5(COL5A1):c.1668A>C (p.Ala556=)
NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu) rs753260027
NM_000093.5(COL5A1):c.1716T>G (p.Pro572=) rs2132687220
NM_000093.5(COL5A1):c.1719+13C>A
NM_000093.5(COL5A1):c.1719+13C>G rs938125770
NM_000093.5(COL5A1):c.1719+19T>G rs1048557481
NM_000093.5(COL5A1):c.1719+7C>A rs1384002863
NM_000093.5(COL5A1):c.1719+8A>T rs747192480
NM_000093.5(COL5A1):c.1720-14C>T
NM_000093.5(COL5A1):c.1720-16C>T
NM_000093.5(COL5A1):c.1724C>A (p.Pro575His)
NM_000093.5(COL5A1):c.1725C>T (p.Pro575=)
NM_000093.5(COL5A1):c.1749C>T (p.Gly583=)
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala) rs751649145
NM_000093.5(COL5A1):c.1773+15T>G
NM_000093.5(COL5A1):c.1773+17C>A
NM_000093.5(COL5A1):c.1773+9G>A
NM_000093.5(COL5A1):c.1774-16C>A rs755041858
NM_000093.5(COL5A1):c.1774-16C>T rs755041858
NM_000093.5(COL5A1):c.1774-7del
NM_000093.5(COL5A1):c.1774-8C>T rs1411915444
NM_000093.5(COL5A1):c.1782A>T (p.Arg594=)
NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_000093.5(COL5A1):c.1794C>G (p.Gly598=) rs370565229
NM_000093.5(COL5A1):c.1796C>T (p.Pro599Leu)
NM_000093.5(COL5A1):c.1806G>A (p.Pro602=)
NM_000093.5(COL5A1):c.1827+8G>T
NM_000093.5(COL5A1):c.1828-11C>T
NM_000093.5(COL5A1):c.1828-12C>G
NM_000093.5(COL5A1):c.1836T>C (p.Ala612=)
NM_000093.5(COL5A1):c.1842T>G (p.Ser614Arg)
NM_000093.5(COL5A1):c.1863T>G (p.Pro621=)
NM_000093.5(COL5A1):c.1881+14C>T
NM_000093.5(COL5A1):c.1881+9C>T rs1030738880
NM_000093.5(COL5A1):c.1882-5del rs1554793544
NM_000093.5(COL5A1):c.1882-9T>C rs1836058051
NM_000093.5(COL5A1):c.1920C>A (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1921G>A (p.Glu641Lys)
NM_000093.5(COL5A1):c.1929C>T (p.Gly643=)
NM_000093.5(COL5A1):c.1935+14C>G rs2132699069
NM_000093.5(COL5A1):c.1935+18G>A
NM_000093.5(COL5A1):c.1936-16C>G rs199694949
NM_000093.5(COL5A1):c.1953C>A (p.Ser651=)
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.1989+14C>T
NM_000093.5(COL5A1):c.1989+17C>T rs981100115
NM_000093.5(COL5A1):c.198A>G (p.Arg66=) rs1463204835
NM_000093.5(COL5A1):c.1990-5T>C
NM_000093.5(COL5A1):c.1990-6C>G
NM_000093.5(COL5A1):c.1990-7T>C
NM_000093.5(COL5A1):c.1990-9C>T
NM_000093.5(COL5A1):c.2016G>A (p.Arg672=)
NM_000093.5(COL5A1):c.2019G>A (p.Gly673=) rs139822656
NM_000093.5(COL5A1):c.2019G>C (p.Gly673=) rs139822656
NM_000093.5(COL5A1):c.2034+16G>C
NM_000093.5(COL5A1):c.2035-13T>C
NM_000093.5(COL5A1):c.2035-14C>A
NM_000093.5(COL5A1):c.2041C>G (p.Arg681Gly)
NM_000093.5(COL5A1):c.2047C>T (p.Leu683=)
NM_000093.5(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_000093.5(COL5A1):c.2070A>G (p.Pro690=) rs1060504527
NM_000093.5(COL5A1):c.2082A>G (p.Gly694=)
NM_000093.5(COL5A1):c.2088+16G>A
NM_000093.5(COL5A1):c.2088+18C>T
NM_000093.5(COL5A1):c.2106C>T (p.Asp702=)
NM_000093.5(COL5A1):c.2115G>A (p.Pro705=)
NM_000093.5(COL5A1):c.2133+13G>A
NM_000093.5(COL5A1):c.2133+19G>A rs757103259
NM_000093.5(COL5A1):c.2134-14C>G
NM_000093.5(COL5A1):c.2134-4G>T
NM_000093.5(COL5A1):c.213G>C (p.Pro71=)
NM_000093.5(COL5A1):c.213G>T (p.Pro71=) rs775666676
NM_000093.5(COL5A1):c.2148G>A (p.Glu716=) rs368917234
NM_000093.5(COL5A1):c.2151T>C (p.Pro717=)
NM_000093.5(COL5A1):c.2154C>T (p.Gly718=) rs201785573
NM_000093.5(COL5A1):c.2159C>T (p.Pro720Leu)
NM_000093.5(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.5(COL5A1):c.2184C>T (p.Ala728=) rs150993138
NM_000093.5(COL5A1):c.2187+20G>A
NM_000093.5(COL5A1):c.2188-11C>A
NM_000093.5(COL5A1):c.2188-15C>G rs1308708773
NM_000093.5(COL5A1):c.2188-15_2188-14del rs2132729217
NM_000093.5(COL5A1):c.2188-6T>G
NM_000093.5(COL5A1):c.2188-9C>T
NM_000093.5(COL5A1):c.2208T>A (p.Gly736=) rs2132729303
NM_000093.5(COL5A1):c.220G>A (p.Ala74Thr)
NM_000093.5(COL5A1):c.2232+17T>G
NM_000093.5(COL5A1):c.2232+20G>A rs2132729412
NM_000093.5(COL5A1):c.2232+7G>A rs2132729384
NM_000093.5(COL5A1):c.2232+8G>A
NM_000093.5(COL5A1):c.2233-11G>A
NM_000093.5(COL5A1):c.2233-13T>G
NM_000093.5(COL5A1):c.2233-15T>C
NM_000093.5(COL5A1):c.2286+8G>A
NM_000093.5(COL5A1):c.2287-11T>C
NM_000093.5(COL5A1):c.2287-12C>T
NM_000093.5(COL5A1):c.2287-7G>C
NM_000093.5(COL5A1):c.2316A>G (p.Gly772=)
NM_000093.5(COL5A1):c.2331+12C>T
NM_000093.5(COL5A1):c.2331+7G>C rs2132742244
NM_000093.5(COL5A1):c.2332-14C>G
NM_000093.5(COL5A1):c.2332-20C>T rs1588534559
NM_000093.5(COL5A1):c.2334T>C (p.Gly778=)
NM_000093.5(COL5A1):c.2346C>T (p.Pro782=)
NM_000093.5(COL5A1):c.2385+13C>A
NM_000093.5(COL5A1):c.2385+19A>G
NM_000093.5(COL5A1):c.2386-10A>C rs2132759970
NM_000093.5(COL5A1):c.2386-6G>T
NM_000093.5(COL5A1):c.2394T>C (p.Asp798=) rs2132760049
NM_000093.5(COL5A1):c.2406T>G (p.Gly802=)
NM_000093.5(COL5A1):c.2409G>A (p.Leu803=) rs2132760095
NM_000093.5(COL5A1):c.2430+11C>T
NM_000093.5(COL5A1):c.2430+20_2430+21inv
NM_000093.5(COL5A1):c.2431-13G>A
NM_000093.5(COL5A1):c.2431-13G>T
NM_000093.5(COL5A1):c.2431-20C>T
NM_000093.5(COL5A1):c.2431-7T>C rs1060504531
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.5(COL5A1):c.2448T>G (p.Pro816=)
NM_000093.5(COL5A1):c.2451G>T (p.Gly817=) rs1554798928
NM_000093.5(COL5A1):c.2478T>C (p.Gly826=)
NM_000093.5(COL5A1):c.2485-14T>C
NM_000093.5(COL5A1):c.2485-18_2485-16del
NM_000093.5(COL5A1):c.2487G>A (p.Gly829=)
NM_000093.5(COL5A1):c.2496C>G (p.Gly832=)
NM_000093.5(COL5A1):c.2535A>G (p.Pro845=)
NM_000093.5(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.2544C>T (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.5(COL5A1):c.2559T>C (p.Gly853=) rs1588545978
NM_000093.5(COL5A1):c.2563C>T (p.Pro855Ser)
NM_000093.5(COL5A1):c.2564C>A (p.Pro855His)
NM_000093.5(COL5A1):c.2565C>T (p.Pro855=)
NM_000093.5(COL5A1):c.2592+20C>A
NM_000093.5(COL5A1):c.2593-10C>G
NM_000093.5(COL5A1):c.2646+13C>T
NM_000093.5(COL5A1):c.2646+30_2646+93del
NM_000093.5(COL5A1):c.2647-12A>T
NM_000093.5(COL5A1):c.2647-16T>G
NM_000093.5(COL5A1):c.2647-9C>G rs757930358
NM_000093.5(COL5A1):c.2647-9C>T
NM_000093.5(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.2676C>T (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.2688G>A (p.Glu896=)
NM_000093.5(COL5A1):c.268C>T (p.Leu90=)
NM_000093.5(COL5A1):c.2700+12C>T rs752367004
NM_000093.5(COL5A1):c.2700+16C>A
NM_000093.5(COL5A1):c.2700+18C>T
NM_000093.5(COL5A1):c.2700+19C>G
NM_000093.5(COL5A1):c.2700+20T>G
NM_000093.5(COL5A1):c.2701-10C>T
NM_000093.5(COL5A1):c.2701-11T>C
NM_000093.5(COL5A1):c.2703G>C (p.Gly901=)
NM_000093.5(COL5A1):c.2724G>C (p.Pro908=) rs41310207
NM_000093.5(COL5A1):c.273C>T (p.Tyr91=) rs1341789008
NM_000093.5(COL5A1):c.2745+7A>G rs1588558338
NM_000093.5(COL5A1):c.2745+9C>T rs1837850960
NM_000093.5(COL5A1):c.2746-11C>T
NM_000093.5(COL5A1):c.2746-12C>A
NM_000093.5(COL5A1):c.2746-12C>T
NM_000093.5(COL5A1):c.2746-15C>T rs2132802979
NM_000093.5(COL5A1):c.2746-19T>G
NM_000093.5(COL5A1):c.2746-6G>T
NM_000093.5(COL5A1):c.2746-8C>T
NM_000093.5(COL5A1):c.2754G>A (p.Arg918=) rs776715400
NM_000093.5(COL5A1):c.277+10G>A
NM_000093.5(COL5A1):c.278-13_278-12del
NM_000093.5(COL5A1):c.278-4C>T
NM_000093.5(COL5A1):c.278-9C>G
NM_000093.5(COL5A1):c.2793C>A (p.Gly931=)
NM_000093.5(COL5A1):c.2799+10T>C rs941515036
NM_000093.5(COL5A1):c.2799+10_2799+19del
NM_000093.5(COL5A1):c.2799+13C>T rs75668257
NM_000093.5(COL5A1):c.2799+14C>T rs1837863011
NM_000093.5(COL5A1):c.2800-13_2800-4del
NM_000093.5(COL5A1):c.2800-15_2800-14del
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.2800-19C>A
NM_000093.5(COL5A1):c.2800-19C>G
NM_000093.5(COL5A1):c.2800-19C>T
NM_000093.5(COL5A1):c.2811A>G (p.Gly937=)
NM_000093.5(COL5A1):c.2841A>G (p.Glu947=)
NM_000093.5(COL5A1):c.2844+20G>C
NM_000093.5(COL5A1):c.2844+20G>T
NM_000093.5(COL5A1):c.2845-13T>C
NM_000093.5(COL5A1):c.2845-17C>T
NM_000093.5(COL5A1):c.2845-18G>A
NM_000093.5(COL5A1):c.2845-19G>A
NM_000093.5(COL5A1):c.2853T>C (p.Asn951=)
NM_000093.5(COL5A1):c.2895C>T (p.Pro965=)
NM_000093.5(COL5A1):c.2898+10G>T
NM_000093.5(COL5A1):c.2898+16C>G
NM_000093.5(COL5A1):c.2898+18T>C
NM_000093.5(COL5A1):c.2898+19G>C
NM_000093.5(COL5A1):c.2898+19G>T
NM_000093.5(COL5A1):c.2899-12T>C
NM_000093.5(COL5A1):c.2899-19C>T
NM_000093.5(COL5A1):c.2899-20T>C
NM_000093.5(COL5A1):c.2899-6C>A
NM_000093.5(COL5A1):c.2899-7T>C
NM_000093.5(COL5A1):c.291C>T (p.Pro97=)
NM_000093.5(COL5A1):c.2952+10_2952+11delinsAT
NM_000093.5(COL5A1):c.2952+16del
NM_000093.5(COL5A1):c.2952+20G>A
NM_000093.5(COL5A1):c.2953-10C>T
NM_000093.5(COL5A1):c.2953-14CT[3]
NM_000093.5(COL5A1):c.2970C>G (p.Thr990=) rs548678914
NM_000093.5(COL5A1):c.2975C>T (p.Pro992Leu)
NM_000093.5(COL5A1):c.2982C>G (p.Gly994=)
NM_000093.5(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_000093.5(COL5A1):c.2986C>A (p.Pro996Thr)
NM_000093.5(COL5A1):c.2988C>T (p.Pro996=) rs374409202
NM_000093.5(COL5A1):c.2997C>G (p.Val999=)
NM_000093.5(COL5A1):c.3006+8C>A rs1386029156
NM_000093.5(COL5A1):c.3007-15T>C
NM_000093.5(COL5A1):c.3007-17A>G
NM_000093.5(COL5A1):c.3007-7C>T
NM_000093.5(COL5A1):c.3015G>T (p.Thr1005=) rs751265351
NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys) rs1060502249
NM_000093.5(COL5A1):c.3045C>T (p.Gly1015=)
NM_000093.5(COL5A1):c.3054G>T (p.Gly1018=) rs369163868
NM_000093.5(COL5A1):c.3084T>C (p.Leu1028=) rs2132822335
NM_000093.5(COL5A1):c.309A>T (p.Leu103=)
NM_000093.5(COL5A1):c.3114+10T>C rs1057523401
NM_000093.5(COL5A1):c.3115-10_3115-9del
NM_000093.5(COL5A1):c.3115-12C>T
NM_000093.5(COL5A1):c.3115-4T>G
NM_000093.5(COL5A1):c.3132A>G (p.Ala1044=) rs2132827122
NM_000093.5(COL5A1):c.315T>C (p.Thr105=) rs1232024630
NM_000093.5(COL5A1):c.3162A>T (p.Gly1054=) rs2132827198
NM_000093.5(COL5A1):c.3163T>C (p.Leu1055=)
NM_000093.5(COL5A1):c.3165A>G (p.Leu1055=) rs1588569724
NM_000093.5(COL5A1):c.3171T>C (p.Gly1057=) rs943030077
NM_000093.5(COL5A1):c.3189G>A (p.Gly1063=)
NM_000093.5(COL5A1):c.318G>A (p.Val106=) rs372181142
NM_000093.5(COL5A1):c.3204+18C>T
NM_000093.5(COL5A1):c.3204+19G>A
NM_000093.5(COL5A1):c.3205-12A>T
NM_000093.5(COL5A1):c.3205-18C>A rs199557977
NM_000093.5(COL5A1):c.3205-5T>C
NM_000093.5(COL5A1):c.3234G>C (p.Gly1078=)
NM_000093.5(COL5A1):c.3236C>A (p.Pro1079His)
NM_000093.5(COL5A1):c.3255T>C (p.Pro1085=)
NM_000093.5(COL5A1):c.3258+13C>G
NM_000093.5(COL5A1):c.3258+20C>T
NM_000093.5(COL5A1):c.3259-11C>G
NM_000093.5(COL5A1):c.3259-11C>T
NM_000093.5(COL5A1):c.3259-12G>T
NM_000093.5(COL5A1):c.3261A>T (p.Gly1087=)
NM_000093.5(COL5A1):c.3270G>A (p.Gly1090=)
NM_000093.5(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.5(COL5A1):c.3312A>G (p.Pro1104=) rs1554803839
NM_000093.5(COL5A1):c.3354G>A (p.Glu1118=) rs2132830826
NM_000093.5(COL5A1):c.3360G>T (p.Gly1120=)
NM_000093.5(COL5A1):c.3366+12C>A
NM_000093.5(COL5A1):c.3366+20G>T
NM_000093.5(COL5A1):c.3367-11G>C
NM_000093.5(COL5A1):c.3367-13C>G
NM_000093.5(COL5A1):c.3367-14_3367-12del rs750002182
NM_000093.5(COL5A1):c.3367-15T>G
NM_000093.5(COL5A1):c.3367-16C>T
NM_000093.5(COL5A1):c.3367-4C>T rs1411238332
NM_000093.5(COL5A1):c.3367-7T>A
NM_000093.5(COL5A1):c.3384A>G (p.Gln1128=)
NM_000093.5(COL5A1):c.3414G>A (p.Gly1138=)
NM_000093.5(COL5A1):c.3426C>T (p.Leu1142=)
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=) rs750169623
NM_000093.5(COL5A1):c.342C>G (p.Ala114=) rs2132569714
NM_000093.5(COL5A1):c.3442C>T (p.Pro1148Ser)
NM_000093.5(COL5A1):c.3468A>C (p.Gly1156=) rs1296980747
NM_000093.5(COL5A1):c.346C>T (p.Leu116=)
NM_000093.5(COL5A1):c.3474+20A>G
NM_000093.5(COL5A1):c.3475-4C>T
NM_000093.5(COL5A1):c.3475-7C>A
NM_000093.5(COL5A1):c.3487G>A (p.Glu1163Lys)
NM_000093.5(COL5A1):c.3528+13A>G
NM_000093.5(COL5A1):c.3528+14C>G
NM_000093.5(COL5A1):c.3529-16G>C
NM_000093.5(COL5A1):c.3529-8C>T
NM_000093.5(COL5A1):c.3546A>T (p.Thr1182=)
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.3576C>T (p.Gly1192=)
NM_000093.5(COL5A1):c.3582+7A>G
NM_000093.5(COL5A1):c.3582+9C>T rs1838518099
NM_000093.5(COL5A1):c.3583-17C>T
NM_000093.5(COL5A1):c.3583-6dup rs773032514
NM_000093.5(COL5A1):c.3597G>A (p.Glu1199=) rs2132844895
NM_000093.5(COL5A1):c.3609G>C (p.Arg1203=) rs369518896
NM_000093.5(COL5A1):c.3690+10G>A
NM_000093.5(COL5A1):c.3690+12G>A rs2132845317
NM_000093.5(COL5A1):c.3690+8T>G
NM_000093.5(COL5A1):c.3690+8_3690+9del
NM_000093.5(COL5A1):c.3691-13T>G
NM_000093.5(COL5A1):c.3691-6T>C rs1187330689
NM_000093.5(COL5A1):c.3691-8del rs2132847274
NM_000093.5(COL5A1):c.36G>A (p.Ala12=) rs1029930975
NM_000093.5(COL5A1):c.3711C>A (p.Gly1237=)
NM_000093.5(COL5A1):c.3744+11C>T
NM_000093.5(COL5A1):c.3744+16A>G
NM_000093.5(COL5A1):c.3744+9G>T
NM_000093.5(COL5A1):c.3745-15T>A
NM_000093.5(COL5A1):c.3745-4C>G
NM_000093.5(COL5A1):c.3747C>G (p.Gly1249=)
NM_000093.5(COL5A1):c.3747C>T (p.Gly1249=)
NM_000093.5(COL5A1):c.3752C>T (p.Pro1251Leu)
NM_000093.5(COL5A1):c.3807A>G (p.Gln1269=)
NM_000093.5(COL5A1):c.3813C>T (p.Pro1271=)
NM_000093.5(COL5A1):c.3834T>C (p.Pro1278=)
NM_000093.5(COL5A1):c.3847G>A (p.Glu1283Lys)
NM_000093.5(COL5A1):c.3853-14C>A
NM_000093.5(COL5A1):c.3853-19A>G
NM_000093.5(COL5A1):c.3853-20C>T
NM_000093.5(COL5A1):c.3853-33_3853-17del
NM_000093.5(COL5A1):c.3853-8C>T
NM_000093.5(COL5A1):c.3869C>G (p.Ala1290Gly)
NM_000093.5(COL5A1):c.3888G>T (p.Pro1296=) rs375631252
NM_000093.5(COL5A1):c.3896G>A (p.Gly1299Asp)
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
NM_000093.5(COL5A1):c.3907-15G>C
NM_000093.5(COL5A1):c.3907-18C>G rs1838675880
NM_000093.5(COL5A1):c.3907-20C>T
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=) rs367804791
NM_000093.5(COL5A1):c.3939G>A (p.Glu1313=) rs886063676
NM_000093.5(COL5A1):c.3957T>C (p.Ala1319=)
NM_000093.5(COL5A1):c.3960C>G (p.Ala1320=)
NM_000093.5(COL5A1):c.3967C>T (p.Pro1323Ser)
NM_000093.5(COL5A1):c.3984T>G (p.Pro1328=)
NM_000093.5(COL5A1):c.3987C>G (p.Pro1329=) rs770802769
NM_000093.5(COL5A1):c.3999T>C (p.Gly1333=) rs1554805651
NM_000093.5(COL5A1):c.4005A>G (p.Lys1335=) rs2132853979
NM_000093.5(COL5A1):c.4014+10C>T rs1434635162
NM_000093.5(COL5A1):c.4014+12A>G
NM_000093.5(COL5A1):c.4015-13T>G
NM_000093.5(COL5A1):c.4015-18_4015-15del rs1360635637
NM_000093.5(COL5A1):c.4020A>C (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4045C>A (p.Pro1349Thr)
NM_000093.5(COL5A1):c.404C>T (p.Ser135Phe) rs201997623
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.4050C>T (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.4053A>C (p.Gly1351=)
NM_000093.5(COL5A1):c.4058C>T (p.Pro1353Leu)
NM_000093.5(COL5A1):c.4068+9T>A rs2132855525
NM_000093.5(COL5A1):c.4069-17C>T
NM_000093.5(COL5A1):c.4069-6C>T rs756079712
NM_000093.5(COL5A1):c.4076A>G (p.Asp1359Gly)
NM_000093.5(COL5A1):c.4081C>A (p.Pro1361Thr)
NM_000093.5(COL5A1):c.4083C>A (p.Pro1361=)
NM_000093.5(COL5A1):c.4083C>G (p.Pro1361=) rs868648962
NM_000093.5(COL5A1):c.4095A>G (p.Lys1365=)
NM_000093.5(COL5A1):c.4122+12A>G
NM_000093.5(COL5A1):c.4123-10C>T rs1057524402
NM_000093.5(COL5A1):c.4123-11C>T
NM_000093.5(COL5A1):c.4123-17C>A
NM_000093.5(COL5A1):c.4123-4C>T
NM_000093.5(COL5A1):c.4123-6T>A
NM_000093.5(COL5A1):c.4158G>A (p.Ser1386=) rs1383677988
NM_000093.5(COL5A1):c.4176+11C>G
NM_000093.5(COL5A1):c.4176+17G>C
NM_000093.5(COL5A1):c.4176+20C>T rs2132858882
NM_000093.5(COL5A1):c.4177-11G>C
NM_000093.5(COL5A1):c.4177-16C>G
NM_000093.5(COL5A1):c.4177-18T>C rs922274540
NM_000093.5(COL5A1):c.4177-8T>G rs1838818747
NM_000093.5(COL5A1):c.4191C>T (p.Pro1397=)
NM_000093.5(COL5A1):c.4200C>T (p.Pro1400=) rs752468183
NM_000093.5(COL5A1):c.4230+13G>A
NM_000093.5(COL5A1):c.4230+7T>C
NM_000093.5(COL5A1):c.4231-11C>T
NM_000093.5(COL5A1):c.4231-12G>C
NM_000093.5(COL5A1):c.4231-16C>T rs1057522679
NM_000093.5(COL5A1):c.4231-7C>G
NM_000093.5(COL5A1):c.4251C>T (p.Gly1417=)
NM_000093.5(COL5A1):c.4252C>T (p.Pro1418Ser) rs796151769
NM_000093.5(COL5A1):c.4287G>A (p.Gly1429=) rs936839849
NM_000093.5(COL5A1):c.4287G>C (p.Gly1429=) rs936839849
NM_000093.5(COL5A1):c.4289C>A (p.Ala1430Asp)
NM_000093.5(COL5A1):c.431C>A (p.Thr144Lys) rs561761305
NM_000093.5(COL5A1):c.4326C>A (p.Ile1442=) rs942145911
NM_000093.5(COL5A1):c.432G>A (p.Thr144=) rs528963362
NM_000093.5(COL5A1):c.432G>T (p.Thr144=) rs528963362
NM_000093.5(COL5A1):c.4338+7A>G
NM_000093.5(COL5A1):c.4338+9G>A
NM_000093.5(COL5A1):c.4339-15G>A
NM_000093.5(COL5A1):c.4347A>G (p.Gln1449=) rs1300586902
NM_000093.5(COL5A1):c.4368C>G (p.Gly1456=)
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn) rs577270517
NM_000093.5(COL5A1):c.4392+10A>G
NM_000093.5(COL5A1):c.4392+11T>C
NM_000093.5(COL5A1):c.4392+14C>T
NM_000093.5(COL5A1):c.4393-15del
NM_000093.5(COL5A1):c.4393-16C>T
NM_000093.5(COL5A1):c.4393-6C>T rs2132865196
NM_000093.5(COL5A1):c.441T>C (p.Pro147=) rs1833615155
NM_000093.5(COL5A1):c.4446+14C>T rs1564481400
NM_000093.5(COL5A1):c.4446+9G>C
NM_000093.5(COL5A1):c.4447-10T>G rs1227842888
NM_000093.5(COL5A1):c.4447-16C>T
NM_000093.5(COL5A1):c.4447-17T>C
NM_000093.5(COL5A1):c.4447-18G>A
NM_000093.5(COL5A1):c.4447-19T>C rs1554806958
NM_000093.5(COL5A1):c.4450C>T (p.His1484Tyr)
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4467G>T (p.Gly1489=) rs878853653
NM_000093.5(COL5A1):c.4478C>T (p.Pro1493Leu)
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>T (p.Pro1494=)
NM_000093.5(COL5A1):c.4500G>A (p.Lys1500=)
NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=)
NM_000093.5(COL5A1):c.4506C>T (p.Asp1502=)
NM_000093.5(COL5A1):c.4515C>G (p.Leu1505=)
NM_000093.5(COL5A1):c.4522C>T (p.Pro1508Ser) rs148687561
NM_000093.5(COL5A1):c.4554+16C>A
NM_000093.5(COL5A1):c.4554+20T>C
NM_000093.5(COL5A1):c.4554+20T>G
NM_000093.5(COL5A1):c.4555-11G>T rs2132874427
NM_000093.5(COL5A1):c.4555-17T>A
NM_000093.5(COL5A1):c.4555-6T>C rs1588592849
NM_000093.5(COL5A1):c.4572T>C (p.Ser1524=)
NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=) rs770238710
NM_000093.5(COL5A1):c.4585C>T (p.Pro1529Ser)
NM_000093.5(COL5A1):c.459C>A (p.Pro153=) rs1588448882
NM_000093.5(COL5A1):c.459C>T (p.Pro153=) rs1588448882
NM_000093.5(COL5A1):c.45G>A (p.Pro15=)
NM_000093.5(COL5A1):c.4608+14A>C
NM_000093.5(COL5A1):c.4608+18G>A
NM_000093.5(COL5A1):c.4608+18G>C
NM_000093.5(COL5A1):c.4608+19C>G
NM_000093.5(COL5A1):c.4608+7A>G rs1554807494
NM_000093.5(COL5A1):c.4609-12CT[3]
NM_000093.5(COL5A1):c.4609-15C>T rs769679819
NM_000093.5(COL5A1):c.4609-6C>T rs1034866420
NM_000093.5(COL5A1):c.4617T>C (p.Pro1539=) rs1588594834
NM_000093.5(COL5A1):c.463T>C (p.Phe155Leu)
NM_000093.5(COL5A1):c.4644+10A>G rs373032507
NM_000093.5(COL5A1):c.4644+20G>C
NM_000093.5(COL5A1):c.4644G>A (p.Ser1548=)
NM_000093.5(COL5A1):c.4645-12C>A
NM_000093.5(COL5A1):c.4645-17C>A
NM_000093.5(COL5A1):c.4645-5C>T rs1308872784
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=) rs778312075
NM_000093.5(COL5A1):c.4653T>G (p.Thr1551=)
NM_000093.5(COL5A1):c.4683A>G (p.Gly1561=)
NM_000093.5(COL5A1):c.4686C>A (p.Pro1562=)
NM_000093.5(COL5A1):c.4686C>T (p.Pro1562=)
NM_000093.5(COL5A1):c.4689A>T (p.Pro1563=)
NM_000093.5(COL5A1):c.4692C>A (p.Gly1564=) rs61735501
NM_000093.5(COL5A1):c.4695C>G (p.Pro1565=) rs752029679
NM_000093.5(COL5A1):c.4698+16A>G rs1232246029
NM_000093.5(COL5A1):c.4698+6dup
NM_000093.5(COL5A1):c.4698+9C>A
NM_000093.5(COL5A1):c.4698+9C>T rs753030199
NM_000093.5(COL5A1):c.4699-14G>A
NM_000093.5(COL5A1):c.4699-19C>T
NM_000093.5(COL5A1):c.4716C>T (p.Val1572=)
NM_000093.5(COL5A1):c.4734C>G (p.Ile1578Met)
NM_000093.5(COL5A1):c.4743C>T (p.Ser1581=)
NM_000093.5(COL5A1):c.4754G>T (p.Arg1585Leu) rs531431738
NM_000093.5(COL5A1):c.4758C>T (p.Asn1586=) rs139332528
NM_000093.5(COL5A1):c.4761C>T (p.Ile1587=)
NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=) rs1318402758
NM_000093.5(COL5A1):c.4831A>T (p.Ile1611Phe)
NM_000093.5(COL5A1):c.4849T>A (p.Ser1617Thr)
NM_000093.5(COL5A1):c.4884C>G (p.Pro1628=) rs2132884435
NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=) rs1588598230
NM_000093.5(COL5A1):c.4892C>A (p.Thr1631Lys) rs764446683
NM_000093.5(COL5A1):c.4892C>G (p.Thr1631Arg) rs764446683
NM_000093.5(COL5A1):c.491+10C>A rs757598488
NM_000093.5(COL5A1):c.491+11A>G
NM_000093.5(COL5A1):c.491+20C>T
NM_000093.5(COL5A1):c.491+9G>A rs752150900
NM_000093.5(COL5A1):c.492-18C>T
NM_000093.5(COL5A1):c.4926G>A (p.Leu1642=) rs2132884637
NM_000093.5(COL5A1):c.4938C>T (p.His1646=)
NM_000093.5(COL5A1):c.4954+11G>C rs957818279
NM_000093.5(COL5A1):c.4954+11G>T
NM_000093.5(COL5A1):c.4954+15G>T rs2132884821
NM_000093.5(COL5A1):c.4954+17del
NM_000093.5(COL5A1):c.4955-15G>A
NM_000093.5(COL5A1):c.4955-20T>G
NM_000093.5(COL5A1):c.4968C>G (p.Val1656=) rs201871481
NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=) rs560774273
NM_000093.5(COL5A1):c.5025C>T (p.Ala1675=) rs560774273
NM_000093.5(COL5A1):c.5028G>A (p.Gly1676=)
NM_000093.5(COL5A1):c.5031G>A (p.Gly1677=)
NM_000093.5(COL5A1):c.5061C>A (p.Ser1687=)
NM_000093.5(COL5A1):c.5061C>T (p.Ser1687=)
NM_000093.5(COL5A1):c.5068-14C>G
NM_000093.5(COL5A1):c.5068-14C>T
NM_000093.5(COL5A1):c.5068-19C>T
NM_000093.5(COL5A1):c.5068-20C>T rs908690867
NM_000093.5(COL5A1):c.5093A>G (p.Glu1698Gly)
NM_000093.5(COL5A1):c.5134C>T (p.Leu1712=) rs2132907681
NM_000093.5(COL5A1):c.5136+13C>T rs1839537836
NM_000093.5(COL5A1):c.5136+15G>A
NM_000093.5(COL5A1):c.5136+16G>T
NM_000093.5(COL5A1):c.5136+18G>A
NM_000093.5(COL5A1):c.5136+8G>C rs770378717
NM_000093.5(COL5A1):c.5137-12_5137-11del
NM_000093.5(COL5A1):c.5137-18A>G
NM_000093.5(COL5A1):c.5139C>G (p.Leu1713=)
NM_000093.5(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.5155G>A (p.Glu1719Lys)
NM_000093.5(COL5A1):c.5162A>G (p.Asn1721Ser) rs1482037877
NM_000093.5(COL5A1):c.5197C>T (p.Leu1733=) rs1839798652
NM_000093.5(COL5A1):c.519C>T (p.His173=)
NM_000093.5(COL5A1):c.5217C>T (p.His1739=) rs869025374
NM_000093.5(COL5A1):c.5226C>T (p.Val1742=) rs1355725982
NM_000093.5(COL5A1):c.527A>G (p.Asn176Ser)
NM_000093.5(COL5A1):c.5295C>T (p.Arg1765=) rs1564187943
NM_000093.5(COL5A1):c.5306C>T (p.Ser1769Phe)
NM_000093.5(COL5A1):c.5313C>T (p.Asp1771=) rs753245063
NM_000093.5(COL5A1):c.531C>G (p.Val177=)
NM_000093.5(COL5A1):c.5325C>T (p.Ser1775=) rs1375535475
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.5358G>A (p.Val1786=)
NM_000093.5(COL5A1):c.5370+16C>T
NM_000093.5(COL5A1):c.5370+17G>A
NM_000093.5(COL5A1):c.5370+18C>T rs370535777
NM_000093.5(COL5A1):c.5370+19G>A
NM_000093.5(COL5A1):c.5371-15C>A
NM_000093.5(COL5A1):c.5371-6C>A
NM_000093.5(COL5A1):c.5390A>G (p.Lys1797Arg)
NM_000093.5(COL5A1):c.5414C>T (p.Pro1805Leu)
NM_000093.5(COL5A1):c.5415C>T (p.Pro1805=) rs1002314921
NM_000093.5(COL5A1):c.5430G>A (p.Val1810=)
NM_000093.5(COL5A1):c.543C>G (p.Leu181=)
NM_000093.5(COL5A1):c.5468C>A (p.Ala1823Glu)
NM_000093.5(COL5A1):c.5469G>A (p.Ala1823=) rs367657505
NM_000093.5(COL5A1):c.5514C>T (p.Gly1838=) rs1060504530
NM_000093.5(COL5A1):c.561C>G (p.Thr187=)
NM_000093.5(COL5A1):c.576C>T (p.Asp192=)
NM_000093.5(COL5A1):c.58C>T (p.Leu20=)
NM_000093.5(COL5A1):c.597C>T (p.Ile199=) rs147008954
NM_000093.5(COL5A1):c.611T>C (p.Ile204Thr) rs773693941
NM_000093.5(COL5A1):c.615C>T (p.Ile205=)
NM_000093.5(COL5A1):c.63C>T (p.Pro21=)
NM_000093.5(COL5A1):c.654+14C>T
NM_000093.5(COL5A1):c.655-17C>A
NM_000093.5(COL5A1):c.655-17C>T rs560814216
NM_000093.5(COL5A1):c.655-20G>T
NM_000093.5(COL5A1):c.655-9C>G
NM_000093.5(COL5A1):c.655-9_655-7del
NM_000093.5(COL5A1):c.675C>G (p.Leu225=)
NM_000093.5(COL5A1):c.678T>C (p.Phe226=)
NM_000093.5(COL5A1):c.67C>G (p.Leu23Val)
NM_000093.5(COL5A1):c.753C>A (p.Thr251=) rs374813957
NM_000093.5(COL5A1):c.75G>A (p.Leu25=) rs2132455041
NM_000093.5(COL5A1):c.780T>C (p.Asp260=) rs1588476059
NM_000093.5(COL5A1):c.786+11T>C
NM_000093.5(COL5A1):c.786+15G>T
NM_000093.5(COL5A1):c.786+18G>A
NM_000093.5(COL5A1):c.786+8_786+12del rs1564414492
NM_000093.5(COL5A1):c.787-13A>G
NM_000093.5(COL5A1):c.787-15G>T
NM_000093.5(COL5A1):c.787-16del
NM_000093.5(COL5A1):c.787-8G>A rs780803048
NM_000093.5(COL5A1):c.787-8G>C rs780803048
NM_000093.5(COL5A1):c.787-8G>T
NM_000093.5(COL5A1):c.787-9C>T rs751472921
NM_000093.5(COL5A1):c.792G>A (p.Thr264=) rs757360763
NM_000093.5(COL5A1):c.792G>T (p.Thr264=) rs757360763
NM_000093.5(COL5A1):c.807G>A (p.Glu269=)
NM_000093.5(COL5A1):c.834C>T (p.Pro278=)
NM_000093.5(COL5A1):c.858A>G (p.Leu286=)
NM_000093.5(COL5A1):c.867G>A (p.Glu289=)
NM_000093.5(COL5A1):c.873C>A (p.Thr291=) rs1834751406
NM_000093.5(COL5A1):c.921C>A (p.Pro307=)
NM_000093.5(COL5A1):c.924+14G>C
NM_000093.5(COL5A1):c.924+15G>A
NM_000093.5(COL5A1):c.924+16G>C
NM_000093.5(COL5A1):c.924+17G>A
NM_000093.5(COL5A1):c.924+18G>A
NM_000093.5(COL5A1):c.925-11T>C
NM_000093.5(COL5A1):c.925-12C>T
NM_000093.5(COL5A1):c.927G>A (p.Glu309=)
NM_000093.5(COL5A1):c.935_936delinsTC (p.Pro312Leu)
NM_000093.5(COL5A1):c.957C>T (p.Pro319=) rs2132639092
NM_000093.5(COL5A1):c.993G>A (p.Glu331=) rs1834830929
NM_000302.4(PLOD1):c.1038T>G (p.Ser346=)
NM_000302.4(PLOD1):c.1050G>C (p.Val350=)
NM_000302.4(PLOD1):c.1077A>G (p.Ala359=) rs1569713675
NM_000302.4(PLOD1):c.1097+11G>C
NM_000302.4(PLOD1):c.1097+13C>T
NM_000302.4(PLOD1):c.1097+14C>T
NM_000302.4(PLOD1):c.1097+17A>C
NM_000302.4(PLOD1):c.1097+17A>G
NM_000302.4(PLOD1):c.1097+17A>T
NM_000302.4(PLOD1):c.1097+17dup
NM_000302.4(PLOD1):c.1097+18G>C
NM_000302.4(PLOD1):c.1097+7T>C
NM_000302.4(PLOD1):c.1098-11C>T
NM_000302.4(PLOD1):c.1098-13C>G
NM_000302.4(PLOD1):c.1098-13C>T rs372681138
NM_000302.4(PLOD1):c.1098-19T>C
NM_000302.4(PLOD1):c.1098-20C>T
NM_000302.4(PLOD1):c.1098-20_1098-19del
NM_000302.4(PLOD1):c.1098-5T>C
NM_000302.4(PLOD1):c.1098-8C>G
NM_000302.4(PLOD1):c.10C>T (p.Leu4=)
NM_000302.4(PLOD1):c.1101C>T (p.Asp367=)
NM_000302.4(PLOD1):c.1102C>T (p.Leu368=)
NM_000302.4(PLOD1):c.114C>T (p.Thr38=) rs11553679
NM_000302.4(PLOD1):c.1170C>T (p.Pro390=) rs1482515706
NM_000302.4(PLOD1):c.1179G>A (p.Leu393=)
NM_000302.4(PLOD1):c.1186C>T (p.Leu396=)
NM_000302.4(PLOD1):c.1191C>A (p.Ile397=) rs899107980
NM_000302.4(PLOD1):c.1202+11T>A
NM_000302.4(PLOD1):c.1202+12C>A
NM_000302.4(PLOD1):c.1202+13C>T
NM_000302.4(PLOD1):c.1202+15T>C
NM_000302.4(PLOD1):c.1202+19C>T
NM_000302.4(PLOD1):c.1202+9G>C
NM_000302.4(PLOD1):c.1203-10C>G rs1569721056
NM_000302.4(PLOD1):c.1203-13T>C
NM_000302.4(PLOD1):c.1203-16del
NM_000302.4(PLOD1):c.1230G>T (p.Arg410=)
NM_000302.4(PLOD1):c.1233T>C (p.His411=)
NM_000302.4(PLOD1):c.1248G>A (p.Ser416=)
NM_000302.4(PLOD1):c.1281C>T (p.Tyr427=)
NM_000302.4(PLOD1):c.1284T>C (p.Tyr428=)
NM_000302.4(PLOD1):c.1305G>A (p.Val435=)
NM_000302.4(PLOD1):c.1321C>A (p.Arg441=) rs11553676
NM_000302.4(PLOD1):c.1328+16G>A
NM_000302.4(PLOD1):c.1329-13G>A
NM_000302.4(PLOD1):c.1329-6C>T
NM_000302.4(PLOD1):c.1344G>A (p.Val448=)
NM_000302.4(PLOD1):c.1347C>G (p.Pro449=)
NM_000302.4(PLOD1):c.1356A>T (p.Ser452=)
NM_000302.4(PLOD1):c.1359C>T (p.Asn453=)
NM_000302.4(PLOD1):c.1386G>A (p.Leu462=)
NM_000302.4(PLOD1):c.1401G>A (p.Gln467=) rs2100758313
NM_000302.4(PLOD1):c.1419C>T (p.His473=)
NM_000302.4(PLOD1):c.1437C>T (p.Pro479=)
NM_000302.4(PLOD1):c.1464G>A (p.Arg488=) rs2100758413
NM_000302.4(PLOD1):c.1470+11A>G rs768467070
NM_000302.4(PLOD1):c.1470+12G>A
NM_000302.4(PLOD1):c.1470+13C>T
NM_000302.4(PLOD1):c.1470+18A>G
NM_000302.4(PLOD1):c.1471-13C>T
NM_000302.4(PLOD1):c.1471-16G>T
NM_000302.4(PLOD1):c.1471-17G>C
NM_000302.4(PLOD1):c.1471-17G>T
NM_000302.4(PLOD1):c.1471-18del
NM_000302.4(PLOD1):c.1471-20A>G
NM_000302.4(PLOD1):c.1471-4C>T
NM_000302.4(PLOD1):c.1471-8C>G
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT rs1553136318
NM_000302.4(PLOD1):c.1479C>T (p.Phe493=)
NM_000302.4(PLOD1):c.1494C>T (p.Asn498=) rs1645810603
NM_000302.4(PLOD1):c.1546C>T (p.Leu516=)
NM_000302.4(PLOD1):c.1548G>C (p.Leu516=)
NM_000302.4(PLOD1):c.1560C>T (p.Leu520=)
NM_000302.4(PLOD1):c.1578C>T (p.Asn526=)
NM_000302.4(PLOD1):c.1584+11G>C
NM_000302.4(PLOD1):c.1584+12G>T
NM_000302.4(PLOD1):c.1584+16G>A
NM_000302.4(PLOD1):c.1584+20A>G
NM_000302.4(PLOD1):c.1585-11A>T
NM_000302.4(PLOD1):c.1585-17CTTCCCA[3]
NM_000302.4(PLOD1):c.1585-19T>C rs1645816365
NM_000302.4(PLOD1):c.1585-5C>A
NM_000302.4(PLOD1):c.1585-7C>T
NM_000302.4(PLOD1):c.1585-9T>G
NM_000302.4(PLOD1):c.159C>T (p.Tyr53=) rs1569682156
NM_000302.4(PLOD1):c.1605C>T (p.Ile535=)
NM_000302.4(PLOD1):c.1614C>T (p.Asn538=)
NM_000302.4(PLOD1):c.1627C>T (p.Leu543=)
NM_000302.4(PLOD1):c.1632A>T (p.Ala544=)
NM_000302.4(PLOD1):c.1635G>A (p.Gly545=) rs2100760044
NM_000302.4(PLOD1):c.1638G>A (p.Lys546=) rs1569726862
NM_000302.4(PLOD1):c.1650+11T>C
NM_000302.4(PLOD1):c.1650+12G>A
NM_000302.4(PLOD1):c.1650+13del
NM_000302.4(PLOD1):c.1650+15C>T
NM_000302.4(PLOD1):c.1650+16_1650+19del
NM_000302.4(PLOD1):c.1650+18C>A
NM_000302.4(PLOD1):c.1650+19C>T
NM_000302.4(PLOD1):c.1650+20T>C
NM_000302.4(PLOD1):c.1650+8C>T
NM_000302.4(PLOD1):c.1651-16T>A
NM_000302.4(PLOD1):c.1651-19G>A
NM_000302.4(PLOD1):c.1653C>A (p.Pro551=)
NM_000302.4(PLOD1):c.1665C>T (p.Val555=)
NM_000302.4(PLOD1):c.168+16G>A
NM_000302.4(PLOD1):c.168+9T>C
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000302.4(PLOD1):c.169-12G>A
NM_000302.4(PLOD1):c.169-16G>A
NM_000302.4(PLOD1):c.169-17G>A
NM_000302.4(PLOD1):c.169-4C>T
NM_000302.4(PLOD1):c.1692G>A (p.Val564=)
NM_000302.4(PLOD1):c.1710G>A (p.Val570=)
NM_000302.4(PLOD1):c.1713G>A (p.Glu571=)
NM_000302.4(PLOD1):c.171G>A (p.Ala57=)
NM_000302.4(PLOD1):c.1722G>A (p.Glu574=)
NM_000302.4(PLOD1):c.174T>G (p.Leu58=) rs2100743311
NM_000302.4(PLOD1):c.1752C>T (p.Asn584=)
NM_000302.4(PLOD1):c.1755+20G>T
NM_000302.4(PLOD1):c.1755+9C>G
NM_000302.4(PLOD1):c.1755+9C>T
NM_000302.4(PLOD1):c.1756-12G>T
NM_000302.4(PLOD1):c.1756-13C>G
NM_000302.4(PLOD1):c.1756-15C>G
NM_000302.4(PLOD1):c.1756-6C>A
NM_000302.4(PLOD1):c.1756-7C>T
NM_000302.4(PLOD1):c.1756-9C>T
NM_000302.4(PLOD1):c.1764C>T (p.Arg588=)
NM_000302.4(PLOD1):c.1773T>C (p.Gly591=)
NM_000302.4(PLOD1):c.1779C>T (p.Tyr593=)
NM_000302.4(PLOD1):c.1785C>T (p.Asn595=)
NM_000302.4(PLOD1):c.1791G>A (p.Pro597=) rs151051718
NM_000302.4(PLOD1):c.1791G>C (p.Pro597=) rs151051718
NM_000302.4(PLOD1):c.1794T>G (p.Thr598=) rs773916889
NM_000302.4(PLOD1):c.1800C>T (p.Asp600=)
NM_000302.4(PLOD1):c.1803C>T (p.Ile601=)
NM_000302.4(PLOD1):c.1806C>T (p.His602=)
NM_000302.4(PLOD1):c.180A>G (p.Leu60=)
NM_000302.4(PLOD1):c.1815G>A (p.Gln605=)
NM_000302.4(PLOD1):c.1818C>T (p.Ile606=) rs372579008
NM_000302.4(PLOD1):c.1833G>A (p.Glu611=)
NM_000302.4(PLOD1):c.183G>A (p.Gly61=)
NM_000302.4(PLOD1):c.1863G>A (p.Ala621=) rs912522044
NM_000302.4(PLOD1):c.1866C>G (p.Pro622=)
NM_000302.4(PLOD1):c.1866C>T (p.Pro622=)
NM_000302.4(PLOD1):c.1878G>A (p.Lys626=)
NM_000302.4(PLOD1):c.1884C>T (p.Tyr628=)
NM_000302.4(PLOD1):c.1887C>G (p.Pro629=)
NM_000302.4(PLOD1):c.1896C>T (p.Tyr632=)
NM_000302.4(PLOD1):c.189C>T (p.Asp63=) rs1259023201
NM_000302.4(PLOD1):c.1903-12G>C
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.1903-15C>T
NM_000302.4(PLOD1):c.1903-17C>T
NM_000302.4(PLOD1):c.1903-18C>A rs750758605
NM_000302.4(PLOD1):c.1903-18C>T rs750758605
NM_000302.4(PLOD1):c.1903-20del
NM_000302.4(PLOD1):c.1905C>G (p.Ala635=)
NM_000302.4(PLOD1):c.1905C>T (p.Ala635=)
NM_000302.4(PLOD1):c.1908G>A (p.Gln636=)
NM_000302.4(PLOD1):c.1911T>C (p.Phe637=)
NM_000302.4(PLOD1):c.1929C>T (p.Val643=) rs752137195
NM_000302.4(PLOD1):c.1947G>A (p.Glu649=)
NM_000302.4(PLOD1):c.1957C>T (p.Leu653=)
NM_000302.4(PLOD1):c.1968C>T (p.His656=)
NM_000302.4(PLOD1):c.1971T>C (p.His657=)
NM_000302.4(PLOD1):c.1977C>T (p.Ala659=)
NM_000302.4(PLOD1):c.1986C>T (p.Phe662=)
NM_000302.4(PLOD1):c.2025C>T (p.Tyr675=)
NM_000302.4(PLOD1):c.2028+12C>A
NM_000302.4(PLOD1):c.2028+12C>G
NM_000302.4(PLOD1):c.2028+16C>G
NM_000302.4(PLOD1):c.2028+17C>G
NM_000302.4(PLOD1):c.2028+18G>A
NM_000302.4(PLOD1):c.2028+7A>C
NM_000302.4(PLOD1):c.2029-20T>C
NM_000302.4(PLOD1):c.2029-20T>G
NM_000302.4(PLOD1):c.2029-3del rs1273287120
NM_000302.4(PLOD1):c.2031C>T (p.Gly677=)
NM_000302.4(PLOD1):c.2034G>A (p.Gly678=)
NM_000302.4(PLOD1):c.2043G>T (p.Arg681=) rs2100768727
NM_000302.4(PLOD1):c.2055C>T (p.Tyr685=)
NM_000302.4(PLOD1):c.2085C>G (p.Gly695=)
NM_000302.4(PLOD1):c.210G>A (p.Thr70=)
NM_000302.4(PLOD1):c.2115G>A (p.Thr705=)
NM_000302.4(PLOD1):c.2115G>T (p.Thr705=)
NM_000302.4(PLOD1):c.2130G>A (p.Gly710=)
NM_000302.4(PLOD1):c.2136C>A (p.Pro712=)
NM_000302.4(PLOD1):c.2136C>T (p.Pro712=)
NM_000302.4(PLOD1):c.2139C>T (p.Thr713=)
NM_000302.4(PLOD1):c.213G>A (p.Ser71=)
NM_000302.4(PLOD1):c.2157C>T (p.Tyr719=)
NM_000302.4(PLOD1):c.2163A>C (p.Ala721=)
NM_000302.4(PLOD1):c.2169C>T (p.Ser723=)
NM_000302.4(PLOD1):c.2178T>C (p.Asp726=)
NM_000302.4(PLOD1):c.25C>T (p.Leu9=)
NM_000302.4(PLOD1):c.264C>T (p.His88=)
NM_000302.4(PLOD1):c.297A>G (p.Ala99=) rs2100743542
NM_000302.4(PLOD1):c.302+6_302+7insCTTTGCA
NM_000302.4(PLOD1):c.303-13G>C
NM_000302.4(PLOD1):c.303-14T>C
NM_000302.4(PLOD1):c.303-17C>T
NM_000302.4(PLOD1):c.303-18T>G rs2100743986
NM_000302.4(PLOD1):c.303-18_303-17del rs2100743981
NM_000302.4(PLOD1):c.303-20T>G
NM_000302.4(PLOD1):c.303-6C>T rs2100744004
NM_000302.4(PLOD1):c.30G>A (p.Leu10=) rs886039113
NM_000302.4(PLOD1):c.312G>C (p.Val104=)
NM_000302.4(PLOD1):c.313C>T (p.Leu105=) rs1557487050
NM_000302.4(PLOD1):c.315G>A (p.Leu105=)
NM_000302.4(PLOD1):c.33C>T (p.Gly11=) rs2100729686
NM_000302.4(PLOD1):c.340C>T (p.Leu114=)
NM_000302.4(PLOD1):c.345G>A (p.Lys115=)
NM_000302.4(PLOD1):c.351C>T (p.Phe117=)
NM_000302.4(PLOD1):c.360C>G (p.Ala120=)
NM_000302.4(PLOD1):c.384T>G (p.Ala128=)
NM_000302.4(PLOD1):c.396C>T (p.Ile132=) rs999062403
NM_000302.4(PLOD1):c.417G>A (p.Glu139=)
NM_000302.4(PLOD1):c.423G>A (p.Lys141=)
NM_000302.4(PLOD1):c.429G>A (p.Pro143=)
NM_000302.4(PLOD1):c.429G>T (p.Pro143=)
NM_000302.4(PLOD1):c.466+10C>G
NM_000302.4(PLOD1):c.466+13G>T
NM_000302.4(PLOD1):c.466+20G>A
NM_000302.4(PLOD1):c.466+7G>A
NM_000302.4(PLOD1):c.467-12A>G
NM_000302.4(PLOD1):c.467-13_467-6del
NM_000302.4(PLOD1):c.467-14C>T
NM_000302.4(PLOD1):c.467-19C>T
NM_000302.4(PLOD1):c.467-20C>T rs1645710680
NM_000302.4(PLOD1):c.467-6C>A
NM_000302.4(PLOD1):c.467-8A>C
NM_000302.4(PLOD1):c.474C>A (p.Ile158=)
NM_000302.4(PLOD1):c.474C>T (p.Ile158=)
NM_000302.4(PLOD1):c.486C>A (p.Pro162=)
NM_000302.4(PLOD1):c.48C>T (p.Ala16=)
NM_000302.4(PLOD1):c.507C>T (p.Ala169=)
NM_000302.4(PLOD1):c.510G>A (p.Glu170=)
NM_000302.4(PLOD1):c.528C>T (p.Ser176=)
NM_000302.4(PLOD1):c.535G>T (p.Asp179Tyr) rs188165334
NM_000302.4(PLOD1):c.541C>T (p.Leu181=)
NM_000302.4(PLOD1):c.543G>C (p.Leu181=)
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.558C>T (p.Ile186=)
NM_000302.4(PLOD1):c.567C>T (p.Asp189=)
NM_000302.4(PLOD1):c.576G>A (p.Lys192=) rs1645712079
NM_000302.4(PLOD1):c.579+12T>C
NM_000302.4(PLOD1):c.579+8G>A
NM_000302.4(PLOD1):c.579+8G>T
NM_000302.4(PLOD1):c.580-10T>C rs1645726829
NM_000302.4(PLOD1):c.580-11C>G
NM_000302.4(PLOD1):c.580-12T>A
NM_000302.4(PLOD1):c.580-13T>G
NM_000302.4(PLOD1):c.580-16A>G
NM_000302.4(PLOD1):c.580-19G>A
NM_000302.4(PLOD1):c.580-20T>G
NM_000302.4(PLOD1):c.580-4G>T
NM_000302.4(PLOD1):c.580-7C>T
NM_000302.4(PLOD1):c.582G>A (p.Glu194=)
NM_000302.4(PLOD1):c.598C>T (p.Leu200=)
NM_000302.4(PLOD1):c.603C>T (p.Asp201=)
NM_000302.4(PLOD1):c.609C>G (p.Arg203=)
NM_000302.4(PLOD1):c.60C>T (p.Gly20=)
NM_000302.4(PLOD1):c.618C>A (p.Ile206=)
NM_000302.4(PLOD1):c.624G>A (p.Gln208=)
NM_000302.4(PLOD1):c.627C>T (p.Asn209=) rs2100748753
NM_000302.4(PLOD1):c.628C>T (p.Leu210=)
NM_000302.4(PLOD1):c.639C>T (p.Ala213=)
NM_000302.4(PLOD1):c.643+10C>T
NM_000302.4(PLOD1):c.643+12C>T
NM_000302.4(PLOD1):c.643+13C>G
NM_000302.4(PLOD1):c.643+16G>C
NM_000302.4(PLOD1):c.643+19G>A
NM_000302.4(PLOD1):c.643+20A>T
NM_000302.4(PLOD1):c.644-15C>T
NM_000302.4(PLOD1):c.644-17_644-16del rs755109500
NM_000302.4(PLOD1):c.644-18G>A
NM_000302.4(PLOD1):c.648G>A (p.Glu216=) rs150852515
NM_000302.4(PLOD1):c.651C>G (p.Val217=)
NM_000302.4(PLOD1):c.654G>A (p.Val218=)
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu) rs566018612
NM_000302.4(PLOD1):c.711G>A (p.Pro237=)
NM_000302.4(PLOD1):c.720C>T (p.Ile240=) rs770749842
NM_000302.4(PLOD1):c.723T>C (p.His241=) rs2100750549
NM_000302.4(PLOD1):c.726C>T (p.Gly242=)
NM_000302.4(PLOD1):c.729C>T (p.Asn243=)
NM_000302.4(PLOD1):c.72G>A (p.Pro24=) rs1645566983
NM_000302.4(PLOD1):c.72G>T (p.Pro24=)
NM_000302.4(PLOD1):c.741+11C>T
NM_000302.4(PLOD1):c.741+12C>T
NM_000302.4(PLOD1):c.741+13C>G
NM_000302.4(PLOD1):c.741+13C>T rs2100750594
NM_000302.4(PLOD1):c.741+16C>T
NM_000302.4(PLOD1):c.741+19C>G
NM_000302.4(PLOD1):c.741+8G>T
NM_000302.4(PLOD1):c.742-13G>A
NM_000302.4(PLOD1):c.742-14C>A
NM_000302.4(PLOD1):c.742-14C>T
NM_000302.4(PLOD1):c.742-9C>A
NM_000302.4(PLOD1):c.744G>A (p.Leu248=)
NM_000302.4(PLOD1):c.759G>A (p.Leu253=)
NM_000302.4(PLOD1):c.759G>C (p.Leu253=) rs762271097
NM_000302.4(PLOD1):c.76+10C>T rs2100729726
NM_000302.4(PLOD1):c.76+11G>A
NM_000302.4(PLOD1):c.76+13A>C
NM_000302.4(PLOD1):c.76+14G>A
NM_000302.4(PLOD1):c.76+15G>T
NM_000302.4(PLOD1):c.76+19G>A
NM_000302.4(PLOD1):c.76+20G>A
NM_000302.4(PLOD1):c.77-13C>A
NM_000302.4(PLOD1):c.77-13C>T
NM_000302.4(PLOD1):c.77-16C>T
NM_000302.4(PLOD1):c.77-17C>A
NM_000302.4(PLOD1):c.77-17C>T rs748925361
NM_000302.4(PLOD1):c.77-18A>G
NM_000302.4(PLOD1):c.77-19T>C
NM_000302.4(PLOD1):c.77-20A>C
NM_000302.4(PLOD1):c.77-20A>G
NM_000302.4(PLOD1):c.77-3320G>C rs2100738654
NM_000302.4(PLOD1):c.77-3351T>C rs1397591568
NM_000302.4(PLOD1):c.77-6C>G
NM_000302.4(PLOD1):c.771C>T (p.Ile257=)
NM_000302.4(PLOD1):c.777C>T (p.Arg259=) rs1473839953
NM_000302.4(PLOD1):c.825C>T (p.Arg275=)
NM_000302.4(PLOD1):c.828C>T (p.Ser276=)
NM_000302.4(PLOD1):c.843+11G>A
NM_000302.4(PLOD1):c.843+14C>T
NM_000302.4(PLOD1):c.843+15A>G
NM_000302.4(PLOD1):c.844-10C>T rs2100752088
NM_000302.4(PLOD1):c.844-12T>C
NM_000302.4(PLOD1):c.844-13C>T
NM_000302.4(PLOD1):c.844-14C>T
NM_000302.4(PLOD1):c.844-15C>T
NM_000302.4(PLOD1):c.844-16G>T
NM_000302.4(PLOD1):c.844-17C>T
NM_000302.4(PLOD1):c.844-6G>C
NM_000302.4(PLOD1):c.844-9C>T
NM_000302.4(PLOD1):c.855G>A (p.Leu285=)
NM_000302.4(PLOD1):c.858C>T (p.Pro286=)
NM_000302.4(PLOD1):c.861G>T (p.Thr287=)
NM_000302.4(PLOD1):c.864C>T (p.Val288=)
NM_000302.4(PLOD1):c.873C>A (p.Gly291=)
NM_000302.4(PLOD1):c.876G>A (p.Val292=)
NM_000302.4(PLOD1):c.907C>T (p.Leu303=)
NM_000302.4(PLOD1):c.90C>T (p.Val30=)
NM_000302.4(PLOD1):c.921G>A (p.Arg307=) rs754534604
NM_000302.4(PLOD1):c.942C>G (p.Pro314=)
NM_000302.4(PLOD1):c.955C>A (p.Arg319=)
NM_000302.4(PLOD1):c.963C>T (p.Phe321=) rs2100752293
NM_000302.4(PLOD1):c.96G>A (p.Thr32=)
NM_000302.4(PLOD1):c.976-14A>G
NM_000302.4(PLOD1):c.976-15C>A
NM_000302.4(PLOD1):c.976-17C>T
NM_000302.4(PLOD1):c.976-18C>T
NM_000302.4(PLOD1):c.999G>A (p.Val333=)
NM_000302.4(PLOD1):c.9C>T (p.Pro3=)
NM_000393.5(COL5A2):c.*1331C>G rs146947961
NM_000393.5(COL5A2):c.*1764G>T rs554165132
NM_000393.5(COL5A2):c.*589_*590del rs200554257
NM_000393.5(COL5A2):c.1005+7G>A rs1402008959
NM_000393.5(COL5A2):c.1006-11A>G
NM_000393.5(COL5A2):c.1006-19del
NM_000393.5(COL5A2):c.1006-20T>C
NM_000393.5(COL5A2):c.1035G>A (p.Gly345=)
NM_000393.5(COL5A2):c.1059+11_1059+12del
NM_000393.5(COL5A2):c.1059+8T>G
NM_000393.5(COL5A2):c.1060-7T>C rs754055737
NM_000393.5(COL5A2):c.1074A>C (p.Ala358=)
NM_000393.5(COL5A2):c.10A>G (p.Asn4Asp)
NM_000393.5(COL5A2):c.1105-11T>G rs1057523251
NM_000393.5(COL5A2):c.1105-13T>A
NM_000393.5(COL5A2):c.1119A>G (p.Ile373Met)
NM_000393.5(COL5A2):c.1122A>G (p.Pro374=)
NM_000393.5(COL5A2):c.1158+20A>G
NM_000393.5(COL5A2):c.1159-11C>T
NM_000393.5(COL5A2):c.1159-12G>C
NM_000393.5(COL5A2):c.1159-16C>T
NM_000393.5(COL5A2):c.1159-18C>T
NM_000393.5(COL5A2):c.1159-8C>T rs1273116792
NM_000393.5(COL5A2):c.1165G>T (p.Ala389Ser)
NM_000393.5(COL5A2):c.1179G>A (p.Gly393=) rs1553515878
NM_000393.5(COL5A2):c.117A>T (p.Ile39=) rs1060504379
NM_000393.5(COL5A2):c.1190C>T (p.Pro397Leu) rs1189039397
NM_000393.5(COL5A2):c.1203G>A (p.Gln401=)
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.5(COL5A2):c.1244C>G (p.Ser415Cys)
NM_000393.5(COL5A2):c.1257+11A>G
NM_000393.5(COL5A2):c.1257+12G>A rs759316090
NM_000393.5(COL5A2):c.1257+13C>A
NM_000393.5(COL5A2):c.1302+17T>C
NM_000393.5(COL5A2):c.1302+20C>T
NM_000393.5(COL5A2):c.1303-8T>C
NM_000393.5(COL5A2):c.1308T>C (p.Ser436=)
NM_000393.5(COL5A2):c.1350A>T (p.Gly450=)
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro) rs548441536
NM_000393.5(COL5A2):c.1402-10T>A
NM_000393.5(COL5A2):c.1402-13A>G
NM_000393.5(COL5A2):c.1402-17C>T
NM_000393.5(COL5A2):c.1402-5T>C
NM_000393.5(COL5A2):c.1404T>C (p.Gly468=) rs1686161677
NM_000393.5(COL5A2):c.1443A>C (p.Pro481=) rs1686160458
NM_000393.5(COL5A2):c.1455+20A>T rs2105600190
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.1456-11G>A
NM_000393.5(COL5A2):c.1456-16C>T
NM_000393.5(COL5A2):c.1456-17C>A
NM_000393.5(COL5A2):c.1458G>T (p.Gly486=)
NM_000393.5(COL5A2):c.1459C>T (p.Pro487Ser)
NM_000393.5(COL5A2):c.1464T>C (p.His488=)
NM_000393.5(COL5A2):c.1479G>A (p.Pro493=)
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.1494T>C (p.Gly498=)
NM_000393.5(COL5A2):c.1514C>T (p.Pro505Leu) rs1234716349
NM_000393.5(COL5A2):c.1532C>G (p.Thr511Arg)
NM_000393.5(COL5A2):c.1563+11A>G
NM_000393.5(COL5A2):c.1575C>T (p.Gly525=)
NM_000393.5(COL5A2):c.1596T>G (p.Ser532=)
NM_000393.5(COL5A2):c.1617+12del
NM_000393.5(COL5A2):c.1617+17A>G
NM_000393.5(COL5A2):c.1617+8T>G
NM_000393.5(COL5A2):c.1617+9G>A
NM_000393.5(COL5A2):c.1625A>T (p.Gln542Leu)
NM_000393.5(COL5A2):c.1626A>G (p.Gln542=) rs745880832
NM_000393.5(COL5A2):c.1653A>G (p.Ser551=)
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.1674G>T (p.Gly558=)
NM_000393.5(COL5A2):c.1680A>C (p.Pro560=)
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.5(COL5A2):c.1701G>A (p.Gly567=) rs1576503230
NM_000393.5(COL5A2):c.1717-10T>G
NM_000393.5(COL5A2):c.1717-15G>T
NM_000393.5(COL5A2):c.1770+12A>T rs915090349
NM_000393.5(COL5A2):c.1770+14A>G
NM_000393.5(COL5A2):c.1771-7T>A
NM_000393.5(COL5A2):c.1771-7_1771-6insTA rs777484785
NM_000393.5(COL5A2):c.1773T>A (p.Gly591=) rs2105591117
NM_000393.5(COL5A2):c.1775C>G (p.Ala592Gly)
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val) rs145169816
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
NM_000393.5(COL5A2):c.1809C>A (p.Gly603=)
NM_000393.5(COL5A2):c.180G>A (p.Gln60=) rs759303686
NM_000393.5(COL5A2):c.1812C>T (p.Ser604=) rs1576502365
NM_000393.5(COL5A2):c.1830G>A (p.Gln610=)
NM_000393.5(COL5A2):c.1832C>T (p.Pro611Leu)
NM_000393.5(COL5A2):c.1833C>G (p.Pro611=)
NM_000393.5(COL5A2):c.1854C>A (p.Gly618=)
NM_000393.5(COL5A2):c.1869+14A>G
NM_000393.5(COL5A2):c.1869+16A>G
NM_000393.5(COL5A2):c.1913C>T (p.Pro638Leu)
NM_000393.5(COL5A2):c.1954C>A (p.Pro652Thr)
NM_000393.5(COL5A2):c.1955C>T (p.Pro652Leu) rs766743234
NM_000393.5(COL5A2):c.1959T>C (p.Ser653=)
NM_000393.5(COL5A2):c.1971C>T (p.Gly657=) rs1686065633
NM_000393.5(COL5A2):c.1974G>A (p.Pro658=)
NM_000393.5(COL5A2):c.1977+10T>C
NM_000393.5(COL5A2):c.1977+13dup
NM_000393.5(COL5A2):c.1977+8A>G
NM_000393.5(COL5A2):c.1977+9T>C
NM_000393.5(COL5A2):c.1989T>C (p.Gly663=)
NM_000393.5(COL5A2):c.2013A>G (p.Pro671=) rs2105586702
NM_000393.5(COL5A2):c.2019C>T (p.Pro673=) rs2105586689
NM_000393.5(COL5A2):c.2032-13A>T
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=) rs1553515128
NM_000393.5(COL5A2):c.2061A>C (p.Gly687=) rs2105584664
NM_000393.5(COL5A2):c.2085+10T>C
NM_000393.5(COL5A2):c.2085+19A>G rs2105584543
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
NM_000393.5(COL5A2):c.2130+13A>G
NM_000393.5(COL5A2):c.2130+16T>G
NM_000393.5(COL5A2):c.2131-15C>A
NM_000393.5(COL5A2):c.2151G>A (p.Gly717=)
NM_000393.5(COL5A2):c.2169G>A (p.Gly723=) rs1272808206
NM_000393.5(COL5A2):c.2178A>T (p.Gly726=) rs1307423893
NM_000393.5(COL5A2):c.2193G>A (p.Lys731=)
NM_000393.5(COL5A2):c.2229+14T>G
NM_000393.5(COL5A2):c.2229+15G>A
NM_000393.5(COL5A2):c.2229+8T>C
NM_000393.5(COL5A2):c.2253C>G (p.Thr751=) rs928855762
NM_000393.5(COL5A2):c.2283A>G (p.Gln761=)
NM_000393.5(COL5A2):c.2298A>G (p.Glu766=) rs369130743
NM_000393.5(COL5A2):c.2310A>G (p.Ala770=)
NM_000393.5(COL5A2):c.2322C>T (p.Gly774=)
NM_000393.5(COL5A2):c.2329G>T (p.Gly777Cys)
NM_000393.5(COL5A2):c.2337+11T>C
NM_000393.5(COL5A2):c.2337+18_2337+29del
NM_000393.5(COL5A2):c.2337+8C>T rs999144463
NM_000393.5(COL5A2):c.2337+8_2337+10del
NM_000393.5(COL5A2):c.2337+8_2337+11del rs2105574989
NM_000393.5(COL5A2):c.2338-12G>T
NM_000393.5(COL5A2):c.2338-15T>G
NM_000393.5(COL5A2):c.2340T>A (p.Gly780=)
NM_000393.5(COL5A2):c.2392-15_2392-14insTGTTG
NM_000393.5(COL5A2):c.2394T>C (p.Gly798=)
NM_000393.5(COL5A2):c.2445+15G>A rs767821578
NM_000393.5(COL5A2):c.2445+19A>C
NM_000393.5(COL5A2):c.2445+8A>G
NM_000393.5(COL5A2):c.2446-11C>T
NM_000393.5(COL5A2):c.2446-5T>C rs1685846142
NM_000393.5(COL5A2):c.2446-7T>C rs1685846268
NM_000393.5(COL5A2):c.2481T>C (p.Pro827=) rs749675749
NM_000393.5(COL5A2):c.2493C>G (p.Gly831=)
NM_000393.5(COL5A2):c.2499+10A>G rs886055356
NM_000393.5(COL5A2):c.2499+16_2499+17dup
NM_000393.5(COL5A2):c.2499+19G>C
NM_000393.5(COL5A2):c.2499+8A>G
NM_000393.5(COL5A2):c.2499+9C>G
NM_000393.5(COL5A2):c.2500-14_2500-13del rs2105565157
NM_000393.5(COL5A2):c.2500-16C>G
NM_000393.5(COL5A2):c.2500-5C>T rs1306555149
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly) rs367718811
NM_000393.5(COL5A2):c.250G>C (p.Asp84His) rs745528957
NM_000393.5(COL5A2):c.2538T>A (p.Gly846=)
NM_000393.5(COL5A2):c.2553+11C>T
NM_000393.5(COL5A2):c.2553+20C>T
NM_000393.5(COL5A2):c.2554-10T>A
NM_000393.5(COL5A2):c.2571T>C (p.Pro857=)
NM_000393.5(COL5A2):c.2598A>G (p.Pro866=) rs757721541
NM_000393.5(COL5A2):c.2614G>T (p.Ala872Ser)
NM_000393.5(COL5A2):c.2633A>G (p.Gln878Arg)
NM_000393.5(COL5A2):c.2661+10C>A
NM_000393.5(COL5A2):c.2661+10C>T
NM_000393.5(COL5A2):c.2661+11A>G
NM_000393.5(COL5A2):c.2661+16_2661+17insCTTGAGTC
NM_000393.5(COL5A2):c.2661+20G>T rs79623676
NM_000393.5(COL5A2):c.2662-16G>C
NM_000393.5(COL5A2):c.2662-6A>G
NM_000393.5(COL5A2):c.2703C>A (p.Thr901=)
NM_000393.5(COL5A2):c.2715+14A>G
NM_000393.5(COL5A2):c.2715+15T>C
NM_000393.5(COL5A2):c.2716-20A>G
NM_000393.5(COL5A2):c.273A>G (p.Glu91=)
NM_000393.5(COL5A2):c.2769+13A>C
NM_000393.5(COL5A2):c.2769+14G>C
NM_000393.5(COL5A2):c.2769+20C>T
NM_000393.5(COL5A2):c.2770-14_2770-11del
NM_000393.5(COL5A2):c.2770-14del
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2770-18C>T
NM_000393.5(COL5A2):c.2770-4C>T rs1576494559
NM_000393.5(COL5A2):c.27A>G (p.Arg9=)
NM_000393.5(COL5A2):c.2829T>C (p.Leu943=) rs1576494477
NM_000393.5(COL5A2):c.2830C>T (p.Arg944Cys)
NM_000393.5(COL5A2):c.2835G>A (p.Gly945=)
NM_000393.5(COL5A2):c.2859G>A (p.Val953=) rs1685784025
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
NM_000393.5(COL5A2):c.2880C>T (p.Gly960=)
NM_000393.5(COL5A2):c.2892C>A (p.Gly964=)
NM_000393.5(COL5A2):c.2892C>T (p.Gly964=) rs2105558761
NM_000393.5(COL5A2):c.2901C>T (p.Asp967=) rs2105558694
NM_000393.5(COL5A2):c.2907G>C (p.Gly969=) rs2105558672
NM_000393.5(COL5A2):c.291A>G (p.Ser97=)
NM_000393.5(COL5A2):c.2922T>C (p.Asp974=)
NM_000393.5(COL5A2):c.2931+10G>A
NM_000393.5(COL5A2):c.2931+12G>A
NM_000393.5(COL5A2):c.2931+17C>T
NM_000393.5(COL5A2):c.2932-11C>T rs1158417509
NM_000393.5(COL5A2):c.296C>T (p.Thr99Ile)
NM_000393.5(COL5A2):c.3002G>A (p.Arg1001His)
NM_000393.5(COL5A2):c.3003T>A (p.Arg1001=)
NM_000393.5(COL5A2):c.3015C>T (p.Gly1005=)
NM_000393.5(COL5A2):c.3039+13A>G
NM_000393.5(COL5A2):c.3039+16G>A
NM_000393.5(COL5A2):c.3039+8G>A
NM_000393.5(COL5A2):c.303A>G (p.Gly101=)
NM_000393.5(COL5A2):c.3040-19A>G
NM_000393.5(COL5A2):c.3040-7A>G rs1236877990
NM_000393.5(COL5A2):c.3044C>A (p.Thr1015Lys)
NM_000393.5(COL5A2):c.3064A>C (p.Thr1022Pro)
NM_000393.5(COL5A2):c.306T>C (p.Gly102=)
NM_000393.5(COL5A2):c.3070G>A (p.Ala1024Thr)
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=) rs774936724
NM_000393.5(COL5A2):c.3108C>A (p.Pro1036=) rs2153507896
NM_000393.5(COL5A2):c.3114C>T (p.Gly1038=)
NM_000393.5(COL5A2):c.3147+12A>G
NM_000393.5(COL5A2):c.3148-6T>G
NM_000393.5(COL5A2):c.3148-9T>A
NM_000393.5(COL5A2):c.3159C>A (p.Gly1053=)
NM_000393.5(COL5A2):c.3171C>G (p.Thr1057=)
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.5(COL5A2):c.3201+15A>C
NM_000393.5(COL5A2):c.3201+17T>A
NM_000393.5(COL5A2):c.3202-17A>G
NM_000393.5(COL5A2):c.3207T>C (p.Asp1069=)
NM_000393.5(COL5A2):c.322+10T>A rs2105711790
NM_000393.5(COL5A2):c.322+7A>G
NM_000393.5(COL5A2):c.3249T>G (p.Gly1083=)
NM_000393.5(COL5A2):c.326G>A (p.Arg109Lys)
NM_000393.5(COL5A2):c.3296A>G (p.Gln1099Arg)
NM_000393.5(COL5A2):c.3309+20C>T rs2153507358
NM_000393.5(COL5A2):c.3309+9G>A
NM_000393.5(COL5A2):c.3310-4T>G rs2153507285
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=) rs1553513577
NM_000393.5(COL5A2):c.3351A>G (p.Lys1117=)
NM_000393.5(COL5A2):c.3363+18_3363+21del
NM_000393.5(COL5A2):c.3364-10C>G
NM_000393.5(COL5A2):c.3364-18C>T
NM_000393.5(COL5A2):c.3364-5T>A
NM_000393.5(COL5A2):c.337-15T>C
NM_000393.5(COL5A2):c.337-17T>C
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.5(COL5A2):c.3432C>T (p.His1144=) rs1685594948
NM_000393.5(COL5A2):c.3438C>G (p.Gly1146=)
NM_000393.5(COL5A2):c.3444T>G (p.Thr1148=) rs2153507006
NM_000393.5(COL5A2):c.3471+11C>T
NM_000393.5(COL5A2):c.3471+17_3471+20del
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.5(COL5A2):c.3525+15G>A
NM_000393.5(COL5A2):c.3525+15G>T rs2153506949
NM_000393.5(COL5A2):c.3525+20A>C
NM_000393.5(COL5A2):c.3526-17G>C
NM_000393.5(COL5A2):c.3526-5T>G
NM_000393.5(COL5A2):c.3573G>T (p.Gly1191=) rs2153506821
NM_000393.5(COL5A2):c.3576A>G (p.Pro1192=)
NM_000393.5(COL5A2):c.3633+14G>A
NM_000393.5(COL5A2):c.3633+17T>C
NM_000393.5(COL5A2):c.3633+9A>T
NM_000393.5(COL5A2):c.3634-4T>C
NM_000393.5(COL5A2):c.3642T>A (p.Pro1214=)
NM_000393.5(COL5A2):c.3690A>T (p.Thr1230=)
NM_000393.5(COL5A2):c.370-9A>T rs2105686943
NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile) rs780628821
NM_000393.5(COL5A2):c.3751T>C (p.Phe1251Leu)
NM_000393.5(COL5A2):c.3756T>C (p.Thr1252=) rs1576486483
NM_000393.5(COL5A2):c.3798A>G (p.Pro1266=)
NM_000393.5(COL5A2):c.3834G>A (p.Gln1278=) rs2153506504
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val) rs772344964
NM_000393.5(COL5A2):c.3879C>T (p.Ala1293=) rs1685508284
NM_000393.5(COL5A2):c.3895C>T (p.Leu1299=)
NM_000393.5(COL5A2):c.3903T>C (p.Leu1301=)
NM_000393.5(COL5A2):c.3906C>T (p.Cys1302=) rs532409377
NM_000393.5(COL5A2):c.3912C>T (p.Ser1304=)
NM_000393.5(COL5A2):c.3918G>A (p.Lys1306=)
NM_000393.5(COL5A2):c.3925+17C>G rs1685506449
NM_000393.5(COL5A2):c.3926-14A>G rs1377852358
NM_000393.5(COL5A2):c.3969A>G (p.Ala1323=) rs1131429
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.5(COL5A2):c.402+15C>T
NM_000393.5(COL5A2):c.402+17A>G
NM_000393.5(COL5A2):c.403-15C>G
NM_000393.5(COL5A2):c.4035A>T (p.Pro1345=) rs2153506152
NM_000393.5(COL5A2):c.4044C>A (p.Thr1348=) rs1430568106
NM_000393.5(COL5A2):c.4076C>A (p.Pro1359His) rs745580343
NM_000393.5(COL5A2):c.4107G>A (p.Gly1369=)
NM_000393.5(COL5A2):c.4113+16del rs779762130
NM_000393.5(COL5A2):c.4113+17A>C
NM_000393.5(COL5A2):c.4113+18C>G
NM_000393.5(COL5A2):c.4114-18_4114-17del rs1440458273
NM_000393.5(COL5A2):c.4114-20_4114-19del
NM_000393.5(COL5A2):c.4137A>G (p.Ser1379=) rs2153505989
NM_000393.5(COL5A2):c.4140T>A (p.Pro1380=)
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=) rs1685417610
NM_000393.5(COL5A2):c.4164T>A (p.Thr1388=)
NM_000393.5(COL5A2):c.4179A>G (p.Leu1393=) rs200888890
NM_000393.5(COL5A2):c.4194C>G (p.Ser1398=)
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=) rs979486002
NM_000393.5(COL5A2):c.4257C>G (p.Leu1419=)
NM_000393.5(COL5A2):c.426A>G (p.Pro142=)
NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)
NM_000393.5(COL5A2):c.4299C>A (p.Ile1433=)
NM_000393.5(COL5A2):c.429A>G (p.Arg143=) rs1488001302
NM_000393.5(COL5A2):c.4314T>C (p.Asn1438=)
NM_000393.5(COL5A2):c.4326G>A (p.Arg1442=)
NM_000393.5(COL5A2):c.4326G>T (p.Arg1442=) rs1685413573
NM_000393.5(COL5A2):c.4353+13T>A
NM_000393.5(COL5A2):c.4353+14G>C
NM_000393.5(COL5A2):c.4353+15A>T rs375110145
NM_000393.5(COL5A2):c.4353+16T>C
NM_000393.5(COL5A2):c.4353+20C>T
NM_000393.5(COL5A2):c.4353+8C>G rs1057523735
NM_000393.5(COL5A2):c.4354-6T>A rs1576482939
NM_000393.5(COL5A2):c.4395A>G (p.Arg1465=)
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.5(COL5A2):c.441G>A (p.Gly147=)
NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)
NM_000393.5(COL5A2):c.4437T>C (p.Pro1479=)
NM_000393.5(COL5A2):c.4449C>A (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.4497G>A (p.Val1499=) rs1249280287
NM_000393.5(COL5A2):c.450A>C (p.Gly150=)
NM_000393.5(COL5A2):c.456+10C>T
NM_000393.5(COL5A2):c.456+18C>T rs887004952
NM_000393.5(COL5A2):c.457-18A>G
NM_000393.5(COL5A2):c.457-6T>A rs756707881
NM_000393.5(COL5A2):c.459C>T (p.Gly153=) rs2105668392
NM_000393.5(COL5A2):c.507A>G (p.Gln169=)
NM_000393.5(COL5A2):c.519A>C (p.Pro173=) rs1553517803
NM_000393.5(COL5A2):c.534T>C (p.His178=)
NM_000393.5(COL5A2):c.537G>C (p.Pro179=)
NM_000393.5(COL5A2):c.537G>T (p.Pro179=)
NM_000393.5(COL5A2):c.54A>G (p.Leu18=) rs2105831569
NM_000393.5(COL5A2):c.552C>G (p.Pro184=)
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn) rs775933907
NM_000393.5(COL5A2):c.559T>C (p.Leu187=)
NM_000393.5(COL5A2):c.567+15T>C
NM_000393.5(COL5A2):c.567+16T>G
NM_000393.5(COL5A2):c.609A>G (p.Gly203=)
NM_000393.5(COL5A2):c.615G>C (p.Gly205=) rs757199738
NM_000393.5(COL5A2):c.645+12T>G rs2105658220
NM_000393.5(COL5A2):c.690+12T>G
NM_000393.5(COL5A2):c.690+13A>G
NM_000393.5(COL5A2):c.690+14T>C
NM_000393.5(COL5A2):c.691-18C>A rs1440268271
NM_000393.5(COL5A2):c.691-20T>C
NM_000393.5(COL5A2):c.693T>A (p.Gly231=)
NM_000393.5(COL5A2):c.744+13_744+16del
NM_000393.5(COL5A2):c.744+17C>G
NM_000393.5(COL5A2):c.744+19T>C
NM_000393.5(COL5A2):c.744+7G>A rs774993105
NM_000393.5(COL5A2):c.744+8T>A rs2105650306
NM_000393.5(COL5A2):c.745-19T>C
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu) rs556805686
NM_000393.5(COL5A2):c.761G>A (p.Arg254His)
NM_000393.5(COL5A2):c.798+10C>A
NM_000393.5(COL5A2):c.798+10del
NM_000393.5(COL5A2):c.799-13T>A rs2105645853
NM_000393.5(COL5A2):c.799-18A>G
NM_000393.5(COL5A2):c.799-7C>T rs879227018
NM_000393.5(COL5A2):c.799-8C>T
NM_000393.5(COL5A2):c.852+13T>G rs2105645578
NM_000393.5(COL5A2):c.852+8T>C rs2105645627
NM_000393.5(COL5A2):c.853-13G>A rs1553516867
NM_000393.5(COL5A2):c.853-17_853-14del
NM_000393.5(COL5A2):c.853-8C>T
NM_000393.5(COL5A2):c.897G>A (p.Lys299=)
NM_000393.5(COL5A2):c.902A>G (p.His301Arg)
NM_000393.5(COL5A2):c.906+12C>G rs1057521955
NM_000393.5(COL5A2):c.906+20A>G
NM_000393.5(COL5A2):c.907-12T>G
NM_000393.5(COL5A2):c.907-18T>C
NM_000393.5(COL5A2):c.907-19T>C
NM_000393.5(COL5A2):c.90C>T (p.Asp30=)
NM_000393.5(COL5A2):c.939A>G (p.Glu313=)
NM_000393.5(COL5A2):c.946G>A (p.Ala316Thr)
NM_000393.5(COL5A2):c.960+11A>G
NM_000393.5(COL5A2):c.961-15C>T
NM_000393.5(COL5A2):c.961-18A>G
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000393.5(COL5A2):c.97+10C>T
NM_000393.5(COL5A2):c.97+15T>C
NM_000393.5(COL5A2):c.978T>C (p.Thr326=) rs1053327487
NM_000393.5(COL5A2):c.98-10C>T rs2105712624
NM_000393.5(COL5A2):c.994A>T (p.Met332Leu)
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_001128225.3(SLC39A13):c.1040+15G>T
NM_001128225.3(SLC39A13):c.1040+18G>A
NM_001128225.3(SLC39A13):c.1040+19G>T
NM_001128225.3(SLC39A13):c.1041-5C>A
NM_001128225.3(SLC39A13):c.1044C>T (p.Arg348=)
NM_001128225.3(SLC39A13):c.105G>A (p.Pro35=) rs1398817706
NM_001128225.3(SLC39A13):c.1074G>T (p.Ala358=)
NM_001128225.3(SLC39A13):c.1080C>T (p.Ile360=)
NM_001128225.3(SLC39A13):c.108C>T (p.Ala36=) rs2153290859
NM_001128225.3(SLC39A13):c.1093C>T (p.Leu365=) rs2153302063
NM_001128225.3(SLC39A13):c.1095G>T (p.Leu365=)
NM_001128225.3(SLC39A13):c.1098C>T (p.Phe366=)
NM_001128225.3(SLC39A13):c.1107C>T (p.Phe369=)
NM_001128225.3(SLC39A13):c.111C>T (p.Leu37=) rs777719077
NM_001128225.3(SLC39A13):c.129G>A (p.Ala43=)
NM_001128225.3(SLC39A13):c.141C>T (p.Arg47=)
NM_001128225.3(SLC39A13):c.153G>A (p.Lys51=) rs529299524
NM_001128225.3(SLC39A13):c.156A>G (p.Glu52=)
NM_001128225.3(SLC39A13):c.234G>T (p.Val78=) rs140298838
NM_001128225.3(SLC39A13):c.240C>T (p.Leu80=)
NM_001128225.3(SLC39A13):c.255G>A (p.Pro85=) rs145309500
NM_001128225.3(SLC39A13):c.291G>A (p.Leu97=)
NM_001128225.3(SLC39A13):c.301+12_301+13del
NM_001128225.3(SLC39A13):c.301+14C>T
NM_001128225.3(SLC39A13):c.302-4G>C
NM_001128225.3(SLC39A13):c.302-6T>C
NM_001128225.3(SLC39A13):c.325C>T (p.Leu109=)
NM_001128225.3(SLC39A13):c.352T>C (p.Leu118=)
NM_001128225.3(SLC39A13):c.369G>C (p.Leu123=)
NM_001128225.3(SLC39A13):c.36G>A (p.Ala12=)
NM_001128225.3(SLC39A13):c.378G>T (p.Leu126=)
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001128225.3(SLC39A13):c.39C>T (p.Gly13=) rs1595877349
NM_001128225.3(SLC39A13):c.402C>T (p.Cys134=)
NM_001128225.3(SLC39A13):c.415+11C>T
NM_001128225.3(SLC39A13):c.415+16C>T
NM_001128225.3(SLC39A13):c.415+23_415+39del
NM_001128225.3(SLC39A13):c.415+9G>A rs1595881246
NM_001128225.3(SLC39A13):c.416-11G>A
NM_001128225.3(SLC39A13):c.420T>C (p.Gly140=)
NM_001128225.3(SLC39A13):c.447A>G (p.Gln149=)
NM_001128225.3(SLC39A13):c.456G>A (p.Gly152=)
NM_001128225.3(SLC39A13):c.459G>A (p.Leu153=)
NM_001128225.3(SLC39A13):c.492G>A (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.492G>C (p.Ala164=)
NM_001128225.3(SLC39A13):c.492G>T (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.51C>T (p.Leu17=)
NM_001128225.3(SLC39A13):c.537+18G>A
NM_001128225.3(SLC39A13):c.537+19G>A
NM_001128225.3(SLC39A13):c.537+8C>A
NM_001128225.3(SLC39A13):c.537+8C>T
NM_001128225.3(SLC39A13):c.538-12_538-11del
NM_001128225.3(SLC39A13):c.538-13C>T
NM_001128225.3(SLC39A13):c.538-20C>T
NM_001128225.3(SLC39A13):c.558T>A (p.Thr186=) rs749530840
NM_001128225.3(SLC39A13):c.567C>T (p.Ala189=)
NM_001128225.3(SLC39A13):c.579T>C (p.Asn193=) rs2096009710
NM_001128225.3(SLC39A13):c.57_58inv (p.Thr20Ala)
NM_001128225.3(SLC39A13):c.582A>T (p.Gly194=)
NM_001128225.3(SLC39A13):c.585C>T (p.Gly195=)
NM_001128225.3(SLC39A13):c.588C>T (p.His196=)
NM_001128225.3(SLC39A13):c.615C>G (p.Pro205=) rs147495812
NM_001128225.3(SLC39A13):c.634C>A (p.Arg212=) rs1242800592
NM_001128225.3(SLC39A13):c.645+20C>T
NM_001128225.3(SLC39A13):c.645+8G>T
NM_001128225.3(SLC39A13):c.645+9C>A
NM_001128225.3(SLC39A13):c.648C>A (p.Val216=)
NM_001128225.3(SLC39A13):c.648C>G (p.Val216=)
NM_001128225.3(SLC39A13):c.681C>T (p.Ile227=) rs768663803
NM_001128225.3(SLC39A13):c.687C>T (p.Asn229=) rs2153299573
NM_001128225.3(SLC39A13):c.693C>T (p.Thr231=) rs2153299580
NM_001128225.3(SLC39A13):c.69C>T (p.Ala23=)
NM_001128225.3(SLC39A13):c.714C>G (p.Ala238=)
NM_001128225.3(SLC39A13):c.735+8G>A
NM_001128225.3(SLC39A13):c.735+8G>T rs568529293
NM_001128225.3(SLC39A13):c.736-10C>A
NM_001128225.3(SLC39A13):c.736-13C>T
NM_001128225.3(SLC39A13):c.736-16G>A
NM_001128225.3(SLC39A13):c.750A>C (p.Thr250=) rs756237499
NM_001128225.3(SLC39A13):c.753C>T (p.Thr251=)
NM_001128225.3(SLC39A13):c.786+12T>C
NM_001128225.3(SLC39A13):c.786+15G>A
NM_001128225.3(SLC39A13):c.786+26_786+41dup rs2153301015
NM_001128225.3(SLC39A13):c.786+7G>A
NM_001128225.3(SLC39A13):c.786+7G>C rs375548129
NM_001128225.3(SLC39A13):c.787-16C>G
NM_001128225.3(SLC39A13):c.834C>T (p.Ser278=)
NM_001128225.3(SLC39A13):c.844C>T (p.Leu282=)
NM_001128225.3(SLC39A13):c.861G>A (p.Ala287=)
NM_001128225.3(SLC39A13):c.909C>A (p.Pro303=) rs527684138
NM_001128225.3(SLC39A13):c.919+13C>A
NM_001128225.3(SLC39A13):c.919+13C>T
NM_001128225.3(SLC39A13):c.919+16G>A
NM_001128225.3(SLC39A13):c.919+19G>C rs1203376008
NM_001128225.3(SLC39A13):c.919+19dup rs747836551
NM_001128225.3(SLC39A13):c.919+20_919+32del
NM_001128225.3(SLC39A13):c.924G>A (p.Gly308=)
NM_001128225.3(SLC39A13):c.93G>C (p.Gly31=)
NM_001128225.3(SLC39A13):c.972C>A (p.Thr324=)
NM_001365276.2(TNXB):c.11349G>A (p.Ala3783=) rs769074772
NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=) rs6457479
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu) rs181025235
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala) rs140056980
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val) rs140056980
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=) rs78022634
NM_001367624.2(ZNF469):c.11262C>T (p.Ser3754=) rs769834740
NM_001367624.2(ZNF469):c.11406C>A (p.His3802Gln) rs141042464
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del) rs775423936
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu) rs568046708
NM_001367624.2(ZNF469):c.3714C>T (p.Ser1238=) rs572061351
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del) rs555544144
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=) rs12919507
NM_001367624.2(ZNF469):c.7635C>T (p.Asp2545=) rs781553869
NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg) rs386794006
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) rs281865162
NM_001367624.2(ZNF469):c.9120G>A (p.Pro3040=) rs534910156
NM_001733.7(C1R):c.1202G>A (p.Arg401His)
NM_001733.7(C1R):c.231+6G>A
NM_001733.7(C1R):c.542A>G (p.Glu181Gly)
NM_001999.4(FBN2):c.143G>T (p.Arg48Leu) rs779831723
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_004370.6(COL12A1):c.1047T>C (p.Tyr349=)
NM_004370.6(COL12A1):c.1059T>C (p.Asn353=)
NM_004370.6(COL12A1):c.108A>C (p.Ile36=)
NM_004370.6(COL12A1):c.1095A>G (p.Lys365=) rs2149467427
NM_004370.6(COL12A1):c.10A>C (p.Arg4=)
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu)
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=) rs575544133
NM_004370.6(COL12A1):c.1127G>A (p.Arg376Gln)
NM_004370.6(COL12A1):c.1131G>A (p.Gln377=)
NM_004370.6(COL12A1):c.1143T>C (p.Ser381=) rs2149467274
NM_004370.6(COL12A1):c.1149G>A (p.Gly383=)
NM_004370.6(COL12A1):c.1161C>G (p.Thr387=) rs2149467222
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys) rs201657256
NM_004370.6(COL12A1):c.1182C>T (p.Leu394=) rs763051678
NM_004370.6(COL12A1):c.1205T>A (p.Ile402Asn)
NM_004370.6(COL12A1):c.1226G>A (p.Gly409Glu) rs775157077
NM_004370.6(COL12A1):c.1243C>T (p.Pro415Ser)
NM_004370.6(COL12A1):c.1248T>C (p.Ile416=) rs2149467023
NM_004370.6(COL12A1):c.1288+12T>G
NM_004370.6(COL12A1):c.1288+15G>A
NM_004370.6(COL12A1):c.1288+18T>C
NM_004370.6(COL12A1):c.1289-13T>G
NM_004370.6(COL12A1):c.1289-15T>C rs2149466614
NM_004370.6(COL12A1):c.1289-17T>A
NM_004370.6(COL12A1):c.1289-19A>G
NM_004370.6(COL12A1):c.1323T>C (p.Ile441=)
NM_004370.6(COL12A1):c.1347T>C (p.Tyr449=)
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=) rs372285460
NM_004370.6(COL12A1):c.1383C>G (p.Ala461=)
NM_004370.6(COL12A1):c.1398T>A (p.Leu466=) rs2149466384
NM_004370.6(COL12A1):c.141A>G (p.Lys47=) rs2149482731
NM_004370.6(COL12A1):c.1434G>A (p.Gln478=) rs762385473
NM_004370.6(COL12A1):c.1449A>G (p.Gln483=) rs533536940
NM_004370.6(COL12A1):c.1491C>T (p.Phe497=)
NM_004370.6(COL12A1):c.1494C>A (p.Thr498=) rs777711709
NM_004370.6(COL12A1):c.1494C>G (p.Thr498=) rs777711709
NM_004370.6(COL12A1):c.1494C>T (p.Thr498=)
NM_004370.6(COL12A1):c.1531C>T (p.Pro511Ser)
NM_004370.6(COL12A1):c.1545A>G (p.Gly515=)
NM_004370.6(COL12A1):c.1545A>T (p.Gly515=)
NM_004370.6(COL12A1):c.1557T>A (p.Thr519=)
NM_004370.6(COL12A1):c.1566A>G (p.Ala522=)
NM_004370.6(COL12A1):c.1581A>G (p.Arg527=) rs1003898953
NM_004370.6(COL12A1):c.1599T>C (p.Pro533=)
NM_004370.6(COL12A1):c.1608A>T (p.Gly536=)
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)
NM_004370.6(COL12A1):c.1647G>T (p.Thr549=) rs761187970
NM_004370.6(COL12A1):c.1656A>G (p.Lys552=) rs2149465844
NM_004370.6(COL12A1):c.1659A>G (p.Ser553=)
NM_004370.6(COL12A1):c.1677T>C (p.Asp559=) rs2149465802
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
NM_004370.6(COL12A1):c.1707T>C (p.Val569=)
NM_004370.6(COL12A1):c.1717G>A (p.Ala573Thr)
NM_004370.6(COL12A1):c.1725T>C (p.Gly575=)
NM_004370.6(COL12A1):c.1731G>A (p.Lys577=)
NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val)
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met) rs140583215
NM_004370.6(COL12A1):c.1764C>T (p.Ala588=)
NM_004370.6(COL12A1):c.1785T>C (p.His595=) rs2149465524
NM_004370.6(COL12A1):c.1788G>A (p.Val596=)
NM_004370.6(COL12A1):c.1839A>G (p.Thr613=)
NM_004370.6(COL12A1):c.1845T>A (p.Ser615=) rs1484924756
NM_004370.6(COL12A1):c.1860T>C (p.Ile620=)
NM_004370.6(COL12A1):c.1891+13T>C
NM_004370.6(COL12A1):c.1891+14G>A
NM_004370.6(COL12A1):c.1891+17A>G
NM_004370.6(COL12A1):c.1892-14_1892-13insA
NM_004370.6(COL12A1):c.1892-6dup rs753233369
NM_004370.6(COL12A1):c.1892-7T>C rs779185109
NM_004370.6(COL12A1):c.1892-9_1892-8insTTTTTTTTTTTAACTGTCT rs560088357
NM_004370.6(COL12A1):c.190+11A>G
NM_004370.6(COL12A1):c.190+18G>A
NM_004370.6(COL12A1):c.1905A>G (p.Pro635=)
NM_004370.6(COL12A1):c.191-16C>A rs2149479283
NM_004370.6(COL12A1):c.191-8A>G
NM_004370.6(COL12A1):c.1917T>C (p.Ser639=) rs2149462302
NM_004370.6(COL12A1):c.1936T>A (p.Tyr646Asn)
NM_004370.6(COL12A1):c.198T>C (p.Pro66=)
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=) rs1582191777
NM_004370.6(COL12A1):c.2046G>A (p.Ser682=) rs1039108581
NM_004370.6(COL12A1):c.2061T>C (p.Val687=)
NM_004370.6(COL12A1):c.207A>G (p.Glu69=) rs2149479234
NM_004370.6(COL12A1):c.2100T>C (p.Asn700=) rs2149461949
NM_004370.6(COL12A1):c.2118G>A (p.Glu706=) rs2149461922
NM_004370.6(COL12A1):c.2145A>G (p.Gly715=)
NM_004370.6(COL12A1):c.2149G>A (p.Glu717Lys)
NM_004370.6(COL12A1):c.2164+8G>C
NM_004370.6(COL12A1):c.2165-4T>C
NM_004370.6(COL12A1):c.2172A>T (p.Gly724=)
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr) rs984509796
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser) rs984509796
NM_004370.6(COL12A1):c.2205T>G (p.Thr735=)
NM_004370.6(COL12A1):c.2225C>G (p.Thr742Ser)
NM_004370.6(COL12A1):c.2232T>C (p.Thr744=)
NM_004370.6(COL12A1):c.2244G>A (p.Gly748=) rs2149456961
NM_004370.6(COL12A1):c.2260C>A (p.Arg754=)
NM_004370.6(COL12A1):c.2265T>C (p.Ile755=) rs982309132
NM_004370.6(COL12A1):c.228C>T (p.Thr76=) rs1432448789
NM_004370.6(COL12A1):c.2292G>A (p.Glu764=) rs2149456858
NM_004370.6(COL12A1):c.2358G>A (p.Thr786=)
NM_004370.6(COL12A1):c.2382T>A (p.Pro794=)
NM_004370.6(COL12A1):c.2403T>A (p.Gly801=) rs750671040
NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys)
NM_004370.6(COL12A1):c.2437+18A>G
NM_004370.6(COL12A1):c.2438-11T>C
NM_004370.6(COL12A1):c.2438-14A>C
NM_004370.6(COL12A1):c.2438-20G>A
NM_004370.6(COL12A1):c.2438-5T>C rs1768879542
NM_004370.6(COL12A1):c.2460A>G (p.Leu820=)
NM_004370.6(COL12A1):c.2506G>C (p.Gly836Arg)
NM_004370.6(COL12A1):c.2529G>A (p.Gln843=) rs374489011
NM_004370.6(COL12A1):c.2535C>T (p.Leu845=) rs372378385
NM_004370.6(COL12A1):c.2541A>G (p.Thr847=) rs775341470
NM_004370.6(COL12A1):c.2547C>T (p.Thr849=)
NM_004370.6(COL12A1):c.2604G>A (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2605G>A (p.Val869Met) rs764066205
NM_004370.6(COL12A1):c.2619G>A (p.Leu873=) rs2149451975
NM_004370.6(COL12A1):c.2631A>G (p.Thr877=) rs2149451941
NM_004370.6(COL12A1):c.2644T>G (p.Ser882Ala) rs1277353575
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=) rs1554186131
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=) rs1554186125
NM_004370.6(COL12A1):c.2710+17_2710+18insTA
NM_004370.6(COL12A1):c.2710+7A>G rs969629618
NM_004370.6(COL12A1):c.2710+8C>A
NM_004370.6(COL12A1):c.2710+8_2710+9delinsTTTTCTGAAA rs2149451710
NM_004370.6(COL12A1):c.2711-9C>A rs2149439017
NM_004370.6(COL12A1):c.2730T>C (p.Asp910=)
NM_004370.6(COL12A1):c.2766G>A (p.Gly922=) rs1768261405
NM_004370.6(COL12A1):c.2766G>T (p.Gly922=)
NM_004370.6(COL12A1):c.2787A>G (p.Pro929=)
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His) rs779848906
NM_004370.6(COL12A1):c.2808G>A (p.Arg936=)
NM_004370.6(COL12A1):c.2814A>G (p.Ser938=)
NM_004370.6(COL12A1):c.2832T>C (p.Asp944=) rs375540397
NM_004370.6(COL12A1):c.2856T>C (p.Asn952=)
NM_004370.6(COL12A1):c.2862T>G (p.Pro954=) rs930413173
NM_004370.6(COL12A1):c.2865A>G (p.Glu955=)
NM_004370.6(COL12A1):c.2901A>G (p.Pro967=)
NM_004370.6(COL12A1):c.2907C>T (p.Thr969=)
NM_004370.6(COL12A1):c.2966G>C (p.Gly989Ala)
NM_004370.6(COL12A1):c.2976A>C (p.Thr992=)
NM_004370.6(COL12A1):c.2983+11T>C
NM_004370.6(COL12A1):c.2983+12_2983+14del
NM_004370.6(COL12A1):c.2983+17G>A
NM_004370.6(COL12A1):c.2984-18C>A
NM_004370.6(COL12A1):c.2984-18C>G
NM_004370.6(COL12A1):c.2984-7C>T
NM_004370.6(COL12A1):c.2984-8T>C
NM_004370.6(COL12A1):c.3057A>G (p.Ala1019=) rs753423916
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile) rs200985706
NM_004370.6(COL12A1):c.3135C>A (p.Pro1045=) rs1582146956
NM_004370.6(COL12A1):c.3147G>C (p.Ser1049=)
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln) rs577784031
NM_004370.6(COL12A1):c.3183T>C (p.Tyr1061=)
NM_004370.6(COL12A1):c.3193G>A (p.Val1065Ile)
NM_004370.6(COL12A1):c.3228T>C (p.Leu1076=)
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)
NM_004370.6(COL12A1):c.3250+16T>G rs1554183547
NM_004370.6(COL12A1):c.3250+7AAT[2] rs778868677
NM_004370.6(COL12A1):c.3251-8C>T rs754632351
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)
NM_004370.6(COL12A1):c.3279C>A (p.Leu1093=)
NM_004370.6(COL12A1):c.330A>G (p.Leu110=) rs2149479020
NM_004370.6(COL12A1):c.334+13A>T rs991483498
NM_004370.6(COL12A1):c.335-15A>G
NM_004370.6(COL12A1):c.335-22TAA[2]
NM_004370.6(COL12A1):c.3351T>C (p.Tyr1117=) rs776878636
NM_004370.6(COL12A1):c.3366C>T (p.His1122=) rs2149423139
NM_004370.6(COL12A1):c.3371C>T (p.Thr1124Met)
NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=) rs749287034
NM_004370.6(COL12A1):c.3372G>C (p.Thr1124=)
NM_004370.6(COL12A1):c.33C>G (p.Ala11=) rs1770596486
NM_004370.6(COL12A1):c.33C>T (p.Ala11=) rs1770596486
NM_004370.6(COL12A1):c.3420C>T (p.Asn1140=) rs752420015
NM_004370.6(COL12A1):c.342A>G (p.Thr114=) rs2149478404
NM_004370.6(COL12A1):c.3438A>G (p.Glu1146=)
NM_004370.6(COL12A1):c.3443+20G>A
NM_004370.6(COL12A1):c.3444-15A>G
NM_004370.6(COL12A1):c.3444-17A>G
NM_004370.6(COL12A1):c.3444-19A>G
NM_004370.6(COL12A1):c.3453C>A (p.Thr1151=)
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His) rs764153192
NM_004370.6(COL12A1):c.3483T>C (p.Phe1161=)
NM_004370.6(COL12A1):c.351G>T (p.Ser117=)
NM_004370.6(COL12A1):c.3534C>A (p.Ser1178=)
NM_004370.6(COL12A1):c.3556T>C (p.Leu1186=)
NM_004370.6(COL12A1):c.3558A>G (p.Leu1186=)
NM_004370.6(COL12A1):c.3561T>A (p.Ser1187=) rs1582143439
NM_004370.6(COL12A1):c.3565+11G>A
NM_004370.6(COL12A1):c.3566-15T>C
NM_004370.6(COL12A1):c.3566-19C>G
NM_004370.6(COL12A1):c.3566-5G>A rs2149417897
NM_004370.6(COL12A1):c.3566-6T>C
NM_004370.6(COL12A1):c.3566-7A>G
NM_004370.6(COL12A1):c.3566-8C>T
NM_004370.6(COL12A1):c.3646A>C (p.Arg1216=)
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn) rs1436778165
NM_004370.6(COL12A1):c.366G>A (p.Glu122=)
NM_004370.6(COL12A1):c.36G>A (p.Leu12=)
NM_004370.6(COL12A1):c.36G>T (p.Leu12=)
NM_004370.6(COL12A1):c.3715+17T>C
NM_004370.6(COL12A1):c.3715+18T>C
NM_004370.6(COL12A1):c.3716-10G>T
NM_004370.6(COL12A1):c.3716-20T>C rs1176638204
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu) rs199692759
NM_004370.6(COL12A1):c.3835+18G>A
NM_004370.6(COL12A1):c.3876C>T (p.Thr1292=)
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)
NM_004370.6(COL12A1):c.390A>T (p.Ile130=)
NM_004370.6(COL12A1):c.3918C>T (p.Leu1306=)
NM_004370.6(COL12A1):c.3927T>C (p.Asp1309=)
NM_004370.6(COL12A1):c.394+11C>T
NM_004370.6(COL12A1):c.394+16A>G
NM_004370.6(COL12A1):c.394+16A>T
NM_004370.6(COL12A1):c.3942C>T (p.Asp1314=) rs570245614
NM_004370.6(COL12A1):c.395-19G>C
NM_004370.6(COL12A1):c.395-19G>T
NM_004370.6(COL12A1):c.395-9G>A
NM_004370.6(COL12A1):c.3972G>A (p.Lys1324=)
NM_004370.6(COL12A1):c.3987G>A (p.Glu1329=)
NM_004370.6(COL12A1):c.4000+14A>G
NM_004370.6(COL12A1):c.4000+15G>T
NM_004370.6(COL12A1):c.4000+18C>T
NM_004370.6(COL12A1):c.4001-6T>C
NM_004370.6(COL12A1):c.4002T>C (p.Gly1334=) rs1425739513
NM_004370.6(COL12A1):c.4010A>T (p.Asn1337Ile)
NM_004370.6(COL12A1):c.4020A>G (p.Glu1340=) rs1582137847
NM_004370.6(COL12A1):c.4026A>G (p.Glu1342=) rs2149415478
NM_004370.6(COL12A1):c.4050T>C (p.Pro1350=)
NM_004370.6(COL12A1):c.4059C>A (p.Thr1353=) rs992754948
NM_004370.6(COL12A1):c.4086G>A (p.Glu1362=)
NM_004370.6(COL12A1):c.4101A>C (p.Ile1367=)
NM_004370.6(COL12A1):c.4147+17G>A
NM_004370.6(COL12A1):c.4148-15dup rs1227725033
NM_004370.6(COL12A1):c.4148-20C>A rs1767317341
NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)
NM_004370.6(COL12A1):c.4191C>T (p.Thr1397=) rs754233830
NM_004370.6(COL12A1):c.41C>T (p.Ala14Val)
NM_004370.6(COL12A1):c.4221A>G (p.Pro1407=) rs2149410580
NM_004370.6(COL12A1):c.423G>A (p.Leu141=) rs755912419
NM_004370.6(COL12A1):c.4269T>C (p.Ser1423=) rs2149410457
NM_004370.6(COL12A1):c.4281T>A (p.Arg1427=)
NM_004370.6(COL12A1):c.4284A>G (p.Gln1428=) rs1767306131
NM_004370.6(COL12A1):c.4287+11A>G
NM_004370.6(COL12A1):c.4287+14C>A
NM_004370.6(COL12A1):c.4287+15C>G
NM_004370.6(COL12A1):c.4288-10T>C rs776440408
NM_004370.6(COL12A1):c.4288-15A>G rs2149409487
NM_004370.6(COL12A1):c.4288-19G>C rs1554182346
NM_004370.6(COL12A1):c.4288-6C>G
NM_004370.6(COL12A1):c.4288-9T>C rs1582131968
NM_004370.6(COL12A1):c.4290T>C (p.Phe1430=) rs2149409419
NM_004370.6(COL12A1):c.4299T>C (p.Ser1433=) rs975876036
NM_004370.6(COL12A1):c.42G>C (p.Ala14=)
NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)
NM_004370.6(COL12A1):c.4338T>C (p.Pro1446=) rs2149409308
NM_004370.6(COL12A1):c.4338T>G (p.Pro1446=)
NM_004370.6(COL12A1):c.433G>A (p.Val145Met)
NM_004370.6(COL12A1):c.4362G>T (p.Val1454=)
NM_004370.6(COL12A1):c.4377A>G (p.Glu1459=)
NM_004370.6(COL12A1):c.4392G>A (p.Glu1464=) rs2149409171
NM_004370.6(COL12A1):c.4393C>G (p.Pro1465Ala)
NM_004370.6(COL12A1):c.4401G>A (p.Lys1467=)
NM_004370.6(COL12A1):c.4404G>A (p.Gly1468=)
NM_004370.6(COL12A1):c.4417+9G>A
NM_004370.6(COL12A1):c.4418-18G>C
NM_004370.6(COL12A1):c.4418-20C>G rs2149407223
NM_004370.6(COL12A1):c.4419G>A (p.Leu1473=)
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr) rs760640025
NM_004370.6(COL12A1):c.4449T>C (p.Tyr1483=)
NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn) rs771864984
NM_004370.6(COL12A1):c.4464C>T (p.Thr1488=) rs763276220
NM_004370.6(COL12A1):c.4467C>G (p.Thr1489=)
NM_004370.6(COL12A1):c.4473T>C (p.His1491=)
NM_004370.6(COL12A1):c.4488T>C (p.Pro1496=) rs2149407078
NM_004370.6(COL12A1):c.4518A>C (p.Ser1506=)
NM_004370.6(COL12A1):c.4537A>G (p.Thr1513Ala)
NM_004370.6(COL12A1):c.4560+14G>A
NM_004370.6(COL12A1):c.4561-18C>T
NM_004370.6(COL12A1):c.4561-6G>A rs560550352
NM_004370.6(COL12A1):c.4561-7T>C
NM_004370.6(COL12A1):c.4561-7_4561-2del rs1582127639
NM_004370.6(COL12A1):c.4564C>G (p.Arg1522Gly) rs574863380
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys) rs574863380
NM_004370.6(COL12A1):c.4572G>A (p.Gly1524=) rs1767129736
NM_004370.6(COL12A1):c.4578A>G (p.Thr1526=)
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=) rs762128925
NM_004370.6(COL12A1):c.459A>G (p.Arg153=)
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys) rs373216375
NM_004370.6(COL12A1):c.4620G>A (p.Glu1540=)
NM_004370.6(COL12A1):c.4647G>A (p.Leu1549=)
NM_004370.6(COL12A1):c.4650C>G (p.His1550Gln) rs754993978
NM_004370.6(COL12A1):c.4656C>A (p.Leu1552=) rs2149405550
NM_004370.6(COL12A1):c.4671C>T (p.Val1557=)
NM_004370.6(COL12A1):c.4674T>A (p.Thr1558=) rs1767121915
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
NM_004370.6(COL12A1):c.4690+17T>C
NM_004370.6(COL12A1):c.4690+19T>C
NM_004370.6(COL12A1):c.4690+9C>T
NM_004370.6(COL12A1):c.4691-13C>G
NM_004370.6(COL12A1):c.4691-13C>T
NM_004370.6(COL12A1):c.4691-16T>G rs750281471
NM_004370.6(COL12A1):c.4691-20A>C
NM_004370.6(COL12A1):c.46C>T (p.Leu16=)
NM_004370.6(COL12A1):c.4701C>A (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4761A>G (p.Glu1587=)
NM_004370.6(COL12A1):c.4806A>G (p.Thr1602=) rs1361287372
NM_004370.6(COL12A1):c.4827+12A>G
NM_004370.6(COL12A1):c.4827+16T>G
NM_004370.6(COL12A1):c.4828-19T>C
NM_004370.6(COL12A1):c.4828-4A>G
NM_004370.6(COL12A1):c.4828-8T>C
NM_004370.6(COL12A1):c.483C>T (p.Asp161=) rs1769829163
NM_004370.6(COL12A1):c.4851C>G (p.Thr1617=)
NM_004370.6(COL12A1):c.4898G>A (p.Ser1633Asn)
NM_004370.6(COL12A1):c.489T>C (p.Ile163=)
NM_004370.6(COL12A1):c.4929T>G (p.Ser1643=)
NM_004370.6(COL12A1):c.4935A>G (p.Pro1645=)
NM_004370.6(COL12A1):c.4958-16C>T
NM_004370.6(COL12A1):c.4958-4A>T
NM_004370.6(COL12A1):c.4958-7A>G rs1332779
NM_004370.6(COL12A1):c.4975A>G (p.Thr1659Ala)
NM_004370.6(COL12A1):c.5010T>G (p.Gly1670=)
NM_004370.6(COL12A1):c.5038T>C (p.Ser1680Pro)
NM_004370.6(COL12A1):c.5040A>G (p.Ser1680=)
NM_004370.6(COL12A1):c.5049T>C (p.Ser1683=)
NM_004370.6(COL12A1):c.504T>G (p.Ser168=) rs371436873
NM_004370.6(COL12A1):c.5097+11C>A
NM_004370.6(COL12A1):c.5097+20T>G
NM_004370.6(COL12A1):c.5098-10T>C rs968352189
NM_004370.6(COL12A1):c.5098-17T>C
NM_004370.6(COL12A1):c.5098-19T>C
NM_004370.6(COL12A1):c.5147C>T (p.Pro1716Leu)
NM_004370.6(COL12A1):c.5157C>T (p.Ile1719=) rs1766737359
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
NM_004370.6(COL12A1):c.5208C>T (p.Asp1736=)
NM_004370.6(COL12A1):c.5215G>T (p.Gly1739Cys)
NM_004370.6(COL12A1):c.5230+12G>A
NM_004370.6(COL12A1):c.5230+17C>T
NM_004370.6(COL12A1):c.5230+20A>C
NM_004370.6(COL12A1):c.5231-8T>C rs1766724577
NM_004370.6(COL12A1):c.5232G>A (p.Leu1744=) rs979503995
NM_004370.6(COL12A1):c.5247A>G (p.Thr1749=)
NM_004370.6(COL12A1):c.5252-11T>C
NM_004370.6(COL12A1):c.5252-14C>T
NM_004370.6(COL12A1):c.5252-7C>A
NM_004370.6(COL12A1):c.5256C>G (p.Pro1752=)
NM_004370.6(COL12A1):c.5274C>T (p.Asn1758=)
NM_004370.6(COL12A1):c.5310T>C (p.Thr1770=) rs2149394288
NM_004370.6(COL12A1):c.5349T>C (p.Tyr1783=)
NM_004370.6(COL12A1):c.5373A>G (p.Thr1791=)
NM_004370.6(COL12A1):c.5379A>G (p.Glu1793=) rs2149394158
NM_004370.6(COL12A1):c.5394+14A>G
NM_004370.6(COL12A1):c.5394+15A>C
NM_004370.6(COL12A1):c.5403A>C (p.Ile1801=) rs1470703983
NM_004370.6(COL12A1):c.5436A>G (p.Lys1812=)
NM_004370.6(COL12A1):c.5457C>T (p.Tyr1819=)
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=) rs1003584679
NM_004370.6(COL12A1):c.5466C>G (p.Thr1822=) rs373978519
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.546T>G (p.Val182=) rs764254293
NM_004370.6(COL12A1):c.5475T>G (p.Ser1825=) rs766269568
NM_004370.6(COL12A1):c.5499T>C (p.Gly1833=) rs1582107388
NM_004370.6(COL12A1):c.549A>G (p.Gln183=)
NM_004370.6(COL12A1):c.5500C>T (p.Arg1834Trp)
NM_004370.6(COL12A1):c.5524+10A>G
NM_004370.6(COL12A1):c.5524+13T>G
NM_004370.6(COL12A1):c.5525-11G>A
NM_004370.6(COL12A1):c.5525-18G>T
NM_004370.6(COL12A1):c.5525-20G>A
NM_004370.6(COL12A1):c.5571C>T (p.Thr1857=)
NM_004370.6(COL12A1):c.5573G>C (p.Ser1858Thr)
NM_004370.6(COL12A1):c.5600C>T (p.Ala1867Val)
NM_004370.6(COL12A1):c.5610T>C (p.Asn1870=) rs2149388082
NM_004370.6(COL12A1):c.561T>C (p.Asp187=)
NM_004370.6(COL12A1):c.5633A>G (p.Tyr1878Cys)
NM_004370.6(COL12A1):c.5662C>T (p.Leu1888=)
NM_004370.6(COL12A1):c.5664+16_5664+35del rs1333051927
NM_004370.6(COL12A1):c.5665-19G>A rs903881382
NM_004370.6(COL12A1):c.5665-4T>C
NM_004370.6(COL12A1):c.5665-6C>A
NM_004370.6(COL12A1):c.5679G>C (p.Gly1893=)
NM_004370.6(COL12A1):c.567G>A (p.Arg189=)
NM_004370.6(COL12A1):c.5694C>T (p.Ala1898=)
NM_004370.6(COL12A1):c.5730T>C (p.Thr1910=) rs1582103755
NM_004370.6(COL12A1):c.5736T>G (p.Thr1912=)
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)
NM_004370.6(COL12A1):c.5745C>A (p.Pro1915=)
NM_004370.6(COL12A1):c.5745C>T (p.Pro1915=) rs780813171
NM_004370.6(COL12A1):c.5751T>C (p.Tyr1917=)
NM_004370.6(COL12A1):c.5790G>A (p.Arg1930=)
NM_004370.6(COL12A1):c.5794+13G>A
NM_004370.6(COL12A1):c.5794+17A>G
NM_004370.6(COL12A1):c.5795-16G>A
NM_004370.6(COL12A1):c.580T>C (p.Leu194=) rs2149475695
NM_004370.6(COL12A1):c.5817T>C (p.Asn1939=)
NM_004370.6(COL12A1):c.5826A>G (p.Val1942=)
NM_004370.6(COL12A1):c.5839C>T (p.Pro1947Ser) rs191233787
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu) rs768626277
NM_004370.6(COL12A1):c.5851G>A (p.Asp1951Asn) rs771175230
NM_004370.6(COL12A1):c.5858G>A (p.Arg1953His)
NM_004370.6(COL12A1):c.5871T>G (p.Ala1957=) rs594012
NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)
NM_004370.6(COL12A1):c.5899G>A (p.Val1967Met)
NM_004370.6(COL12A1):c.5937+14T>A rs2149385207
NM_004370.6(COL12A1):c.5937+17T>C rs1023564287
NM_004370.6(COL12A1):c.5938-9C>G
NM_004370.6(COL12A1):c.5938-9C>T rs1166562974
NM_004370.6(COL12A1):c.5943A>G (p.Val1981=)
NM_004370.6(COL12A1):c.5949A>C (p.Pro1983=) rs770005423
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser) rs373170333
NM_004370.6(COL12A1):c.5960G>A (p.Arg1987His)
NM_004370.6(COL12A1):c.5967G>A (p.Val1989=)
NM_004370.6(COL12A1):c.5970T>C (p.His1990=)
NM_004370.6(COL12A1):c.5982G>A (p.Leu1994=)
NM_004370.6(COL12A1):c.5988G>A (p.Pro1996=)
NM_004370.6(COL12A1):c.5994A>G (p.Thr1998=)
NM_004370.6(COL12A1):c.5997C>G (p.Leu1999=) rs111547439
NM_004370.6(COL12A1):c.5G>A (p.Arg2Gln) rs1265886692
NM_004370.6(COL12A1):c.600G>A (p.Arg200=) rs2149475654
NM_004370.6(COL12A1):c.6027G>A (p.Ser2009=)
NM_004370.6(COL12A1):c.6054C>T (p.Ala2018=)
NM_004370.6(COL12A1):c.6060C>T (p.Gly2020=)
NM_004370.6(COL12A1):c.6067+12A>G
NM_004370.6(COL12A1):c.6067+19C>A
NM_004370.6(COL12A1):c.6068-15A>G
NM_004370.6(COL12A1):c.6068-16T>C
NM_004370.6(COL12A1):c.6068-20A>G
NM_004370.6(COL12A1):c.6084A>C (p.Pro2028=)
NM_004370.6(COL12A1):c.6093G>C (p.Leu2031=) rs909100621
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)
NM_004370.6(COL12A1):c.6126G>A (p.Ser2042=)
NM_004370.6(COL12A1):c.6144T>A (p.Ala2048=)
NM_004370.6(COL12A1):c.6158A>G (p.Gln2053Arg)
NM_004370.6(COL12A1):c.6171C>T (p.Ile2057=)
NM_004370.6(COL12A1):c.6210+10A>T
NM_004370.6(COL12A1):c.6210+16A>G
NM_004370.6(COL12A1):c.6210+17T>C
NM_004370.6(COL12A1):c.6210+20A>T rs377223538
NM_004370.6(COL12A1):c.6211-10T>A
NM_004370.6(COL12A1):c.6211-19A>C
NM_004370.6(COL12A1):c.6211-6C>G
NM_004370.6(COL12A1):c.6244C>T (p.Leu2082=)
NM_004370.6(COL12A1):c.6246G>T (p.Leu2082=)
NM_004370.6(COL12A1):c.6276A>G (p.Lys2092=)
NM_004370.6(COL12A1):c.6309T>C (p.Asp2103=) rs2149379927
NM_004370.6(COL12A1):c.6312T>C (p.Gly2104=)
NM_004370.6(COL12A1):c.6318T>C (p.His2106=)
NM_004370.6(COL12A1):c.6340+12G>C
NM_004370.6(COL12A1):c.6340+14A>G
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His) rs1424010902
NM_004370.6(COL12A1):c.6378C>T (p.Asp2126=) rs371734128
NM_004370.6(COL12A1):c.6382T>C (p.Trp2128Arg)
NM_004370.6(COL12A1):c.6435A>T (p.Gly2145=) rs757397618
NM_004370.6(COL12A1):c.6460+10_6460+11dup rs2149377067
NM_004370.6(COL12A1):c.6501A>T (p.Thr2167=)
NM_004370.6(COL12A1):c.6558T>A (p.Ala2186=) rs1486712607
NM_004370.6(COL12A1):c.658+10A>G rs2149475491
NM_004370.6(COL12A1):c.658+13G>A
NM_004370.6(COL12A1):c.658+13G>T
NM_004370.6(COL12A1):c.659-8C>T
NM_004370.6(COL12A1):c.6607+14A>T
NM_004370.6(COL12A1):c.6607+16T>A
NM_004370.6(COL12A1):c.6607+7C>T
NM_004370.6(COL12A1):c.6608-19T>C rs2149374329
NM_004370.6(COL12A1):c.6609A>G (p.Leu2203=)
NM_004370.6(COL12A1):c.6639C>T (p.Tyr2213=)
NM_004370.6(COL12A1):c.6711A>C (p.Leu2237=) rs2149374132
NM_004370.6(COL12A1):c.6720A>T (p.Ala2240=)
NM_004370.6(COL12A1):c.6724+11A>G rs1398653047
NM_004370.6(COL12A1):c.6725-14G>A
NM_004370.6(COL12A1):c.6725-16T>C
NM_004370.6(COL12A1):c.6725-18C>A
NM_004370.6(COL12A1):c.6725-6_6725-4del rs2149373848
NM_004370.6(COL12A1):c.6726A>T (p.Gly2242=)
NM_004370.6(COL12A1):c.6729A>C (p.Thr2243=) rs1765889227
NM_004370.6(COL12A1):c.6756A>G (p.Gly2252=) rs2149373749
NM_004370.6(COL12A1):c.6759A>T (p.Ser2253=) rs1765886657
NM_004370.6(COL12A1):c.6771C>G (p.His2257Gln)
NM_004370.6(COL12A1):c.6871+14G>A
NM_004370.6(COL12A1):c.6871+20G>T
NM_004370.6(COL12A1):c.6872-14T>C
NM_004370.6(COL12A1):c.6872-15A>G
NM_004370.6(COL12A1):c.6900G>A (p.Glu2300=) rs1194108575
NM_004370.6(COL12A1):c.6946+7_6946+8delinsGA rs2149372484
NM_004370.6(COL12A1):c.6947-12C>T
NM_004370.6(COL12A1):c.6947-5T>C
NM_004370.6(COL12A1):c.6947-6T>G rs200538799
NM_004370.6(COL12A1):c.6966A>G (p.Ala2322=) rs1364212431
NM_004370.6(COL12A1):c.7011T>C (p.Asp2337=) rs2149369622
NM_004370.6(COL12A1):c.7017T>C (p.Phe2339=)
NM_004370.6(COL12A1):c.7027G>A (p.Val2343Ile)
NM_004370.6(COL12A1):c.702T>C (p.Ser234=)
NM_004370.6(COL12A1):c.7038C>T (p.Ile2346=) rs2149369561
NM_004370.6(COL12A1):c.7065A>G (p.Glu2355=) rs1055080261
NM_004370.6(COL12A1):c.7086+10del
NM_004370.6(COL12A1):c.7086+15G>A
NM_004370.6(COL12A1):c.7086+20T>A
NM_004370.6(COL12A1):c.7087-11T>A rs2149366872
NM_004370.6(COL12A1):c.7087-16del
NM_004370.6(COL12A1):c.7087-20C>T
NM_004370.6(COL12A1):c.7087-6C>T
NM_004370.6(COL12A1):c.7087-8T>C
NM_004370.6(COL12A1):c.7137C>T (p.Asn2379=) rs2149366781
NM_004370.6(COL12A1):c.7143C>T (p.Tyr2381=) rs2149366759
NM_004370.6(COL12A1):c.7146T>C (p.Asn2382=) rs2149366746
NM_004370.6(COL12A1):c.7161C>A (p.Ala2387=) rs2149366727
NM_004370.6(COL12A1):c.7189A>C (p.Arg2397=)
NM_004370.6(COL12A1):c.7200C>T (p.Asn2400=)
NM_004370.6(COL12A1):c.7210+19C>G rs747884107
NM_004370.6(COL12A1):c.7210+7G>A
NM_004370.6(COL12A1):c.7211-11A>G
NM_004370.6(COL12A1):c.7211-16A>G
NM_004370.6(COL12A1):c.7211-19T>C
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=) rs2149366384
NM_004370.6(COL12A1):c.7272T>C (p.Asn2424=)
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.73+16C>T
NM_004370.6(COL12A1):c.73+19C>T
NM_004370.6(COL12A1):c.73+8G>A
NM_004370.6(COL12A1):c.7317T>C (p.Asp2439=) rs2149366203
NM_004370.6(COL12A1):c.7326G>A (p.Lys2442=)
NM_004370.6(COL12A1):c.7355-11C>T
NM_004370.6(COL12A1):c.7355-17T>C
NM_004370.6(COL12A1):c.7355-18A>C
NM_004370.6(COL12A1):c.7355-19T>G
NM_004370.6(COL12A1):c.7355-4G>T rs2149363736
NM_004370.6(COL12A1):c.7359C>T (p.Phe2453=)
NM_004370.6(COL12A1):c.7365C>T (p.Val2455=)
NM_004370.6(COL12A1):c.7389C>T (p.Val2463=)
NM_004370.6(COL12A1):c.7395C>T (p.Tyr2465=)
NM_004370.6(COL12A1):c.74-15CT[3] rs756206757
NM_004370.6(COL12A1):c.74-18A>G rs2149482912
NM_004370.6(COL12A1):c.7401G>A (p.Glu2467=)
NM_004370.6(COL12A1):c.7488T>G (p.Leu2496=) rs2149363505
NM_004370.6(COL12A1):c.7519+17A>G rs2149363447
NM_004370.6(COL12A1):c.7519+18T>A
NM_004370.6(COL12A1):c.7520-11G>A
NM_004370.6(COL12A1):c.7520-4G>A
NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)
NM_004370.6(COL12A1):c.7558+17T>C rs1323169221
NM_004370.6(COL12A1):c.7559-6G>A
NM_004370.6(COL12A1):c.7560T>C (p.Gly2520=) rs2149361484
NM_004370.6(COL12A1):c.7608T>G (p.Ser2536=) rs778124838
NM_004370.6(COL12A1):c.7617A>G (p.Gly2539=) rs2149361397
NM_004370.6(COL12A1):c.7620A>T (p.Val2540=)
NM_004370.6(COL12A1):c.765T>C (p.Asp255=) rs2149475018
NM_004370.6(COL12A1):c.7697+18_7697+20del
NM_004370.6(COL12A1):c.7697+19G>A
NM_004370.6(COL12A1):c.7698-10T>C
NM_004370.6(COL12A1):c.7698-14G>T
NM_004370.6(COL12A1):c.7698-18_7698-15del
NM_004370.6(COL12A1):c.7698-6C>T rs1582070030
NM_004370.6(COL12A1):c.7701C>T (p.Asp2567=) rs772064054
NM_004370.6(COL12A1):c.7702C>T (p.Leu2568=) rs745685013
NM_004370.6(COL12A1):c.7743A>G (p.Leu2581=)
NM_004370.6(COL12A1):c.7761A>G (p.Pro2587=) rs1768943747
NM_004370.6(COL12A1):c.7817C>T (p.Pro2606Leu)
NM_004370.6(COL12A1):c.7840+9T>G rs774128333
NM_004370.6(COL12A1):c.7841-18C>T
NM_004370.6(COL12A1):c.7841-4A>G
NM_004370.6(COL12A1):c.7854G>A (p.Thr2618=) rs190984968
NM_004370.6(COL12A1):c.7869C>T (p.Asn2623=) rs201337277
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=) rs1015843320
NM_004370.6(COL12A1):c.789G>A (p.Glu263=) rs2149474985
NM_004370.6(COL12A1):c.7944T>C (p.Phe2648=)
NM_004370.6(COL12A1):c.7950+10_7950+11del rs762026995
NM_004370.6(COL12A1):c.7951-14_7951-13del rs745783404
NM_004370.6(COL12A1):c.7970C>T (p.Ser2657Leu)
NM_004370.6(COL12A1):c.7980T>C (p.Val2660=)
NM_004370.6(COL12A1):c.8019C>T (p.Asp2673=)
NM_004370.6(COL12A1):c.8025G>A (p.Lys2675=) rs2149353076
NM_004370.6(COL12A1):c.8082G>C (p.Gly2694=) rs2149352990
NM_004370.6(COL12A1):c.8136A>G (p.Pro2712=)
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)
NM_004370.6(COL12A1):c.8178+16T>C
NM_004370.6(COL12A1):c.8179-12T>C
NM_004370.6(COL12A1):c.8179-15T>C
NM_004370.6(COL12A1):c.8179-16C>A
NM_004370.6(COL12A1):c.8179-20T>C
NM_004370.6(COL12A1):c.8211T>C (p.Asn2737=)
NM_004370.6(COL12A1):c.823+15G>C
NM_004370.6(COL12A1):c.823+15G>T
NM_004370.6(COL12A1):c.823+17_823+18insGTAATGATAATGTAA
NM_004370.6(COL12A1):c.823+19A>G
NM_004370.6(COL12A1):c.823+8A>C rs1769795222
NM_004370.6(COL12A1):c.8232C>T (p.Asp2744=) rs1582055336
NM_004370.6(COL12A1):c.824-20C>G
NM_004370.6(COL12A1):c.824-20C>T rs369499035
NM_004370.6(COL12A1):c.8244T>C (p.Pro2748=)
NM_004370.6(COL12A1):c.8265+11T>C rs775543292
NM_004370.6(COL12A1):c.8265+20T>A
NM_004370.6(COL12A1):c.8266-14T>A
NM_004370.6(COL12A1):c.8266-8T>C
NM_004370.6(COL12A1):c.8319+16_8319+17del
NM_004370.6(COL12A1):c.8319+17G>A
NM_004370.6(COL12A1):c.8320-12del rs1436326715
NM_004370.6(COL12A1):c.8320-16C>G
NM_004370.6(COL12A1):c.8320-9G>A
NM_004370.6(COL12A1):c.8367T>G (p.Gly2789=)
NM_004370.6(COL12A1):c.8415+12G>A rs2149344185
NM_004370.6(COL12A1):c.8415+13C>T rs2149344182
NM_004370.6(COL12A1):c.8415+17T>C rs2149344172
NM_004370.6(COL12A1):c.8415+18C>T
NM_004370.6(COL12A1):c.8416-17C>T
NM_004370.6(COL12A1):c.8416-8C>A rs775559307
NM_004370.6(COL12A1):c.8419C>T (p.Arg2807Cys)
NM_004370.6(COL12A1):c.8469+20G>T rs1768324536
NM_004370.6(COL12A1):c.8470-12C>T
NM_004370.6(COL12A1):c.8470-4G>T
NM_004370.6(COL12A1):c.8493A>G (p.Pro2831=)
NM_004370.6(COL12A1):c.8523+17del
NM_004370.6(COL12A1):c.8524-10T>G
NM_004370.6(COL12A1):c.8524-12dup rs1261200705
NM_004370.6(COL12A1):c.8524-15dup rs2149337428
NM_004370.6(COL12A1):c.8524-6C>A rs777596531
NM_004370.6(COL12A1):c.8532T>A (p.Thr2844=)
NM_004370.6(COL12A1):c.8541C>T (p.Asp2847=)
NM_004370.6(COL12A1):c.8573C>T (p.Pro2858Leu)
NM_004370.6(COL12A1):c.8574G>A (p.Pro2858=)
NM_004370.6(COL12A1):c.8577+20C>T
NM_004370.6(COL12A1):c.8578-19C>G
NM_004370.6(COL12A1):c.8578-8T>C rs2149333586
NM_004370.6(COL12A1):c.8583C>T (p.Ser2861=) rs189999387
NM_004370.6(COL12A1):c.8601C>T (p.Val2867=)
NM_004370.6(COL12A1):c.8608C>G (p.Pro2870Ala)
NM_004370.6(COL12A1):c.8613T>C (p.Ser2871=)
NM_004370.6(COL12A1):c.8630C>A (p.Pro2877His)
NM_004370.6(COL12A1):c.8649+10C>G
NM_004370.6(COL12A1):c.8649+13C>A
NM_004370.6(COL12A1):c.8649+13C>G
NM_004370.6(COL12A1):c.8649+16G>C
NM_004370.6(COL12A1):c.8650-14T>A
NM_004370.6(COL12A1):c.8650-19T>C
NM_004370.6(COL12A1):c.8650-20A>C rs1281657456
NM_004370.6(COL12A1):c.867C>T (p.Ser289=)
NM_004370.6(COL12A1):c.8685+13A>T
NM_004370.6(COL12A1):c.8685+17A>G
NM_004370.6(COL12A1):c.8685+18A>G rs2149328733
NM_004370.6(COL12A1):c.8685+8T>C rs763115734
NM_004370.6(COL12A1):c.8686-6A>G
NM_004370.6(COL12A1):c.8703G>A (p.Gln2901=)
NM_004370.6(COL12A1):c.8725A>C (p.Arg2909=)
NM_004370.6(COL12A1):c.8752+14T>C
NM_004370.6(COL12A1):c.8752+15C>G
NM_004370.6(COL12A1):c.8752+18T>C
NM_004370.6(COL12A1):c.8752+9del
NM_004370.6(COL12A1):c.877C>T (p.Leu293=)
NM_004370.6(COL12A1):c.8790T>C (p.Ile2930=)
NM_004370.6(COL12A1):c.8813G>A (p.Arg2938His)
NM_004370.6(COL12A1):c.8829G>A (p.Pro2943=)
NM_004370.6(COL12A1):c.8832G>A (p.Pro2944=) rs2149327016
NM_004370.6(COL12A1):c.8835T>A (p.Gly2945=) rs2149327011
NM_004370.6(COL12A1):c.8840C>T (p.Pro2947Leu)
NM_004370.6(COL12A1):c.8865C>T (p.Ala2955=) rs2149326931
NM_004370.6(COL12A1):c.8868A>G (p.Arg2956=) rs942666795
NM_004370.6(COL12A1):c.8880G>C (p.Gly2960=) rs774577979
NM_004370.6(COL12A1):c.8890C>A (p.Arg2964=) rs760317754
NM_004370.6(COL12A1):c.8916G>A (p.Gly2972=) rs2149326803
NM_004370.6(COL12A1):c.892A>C (p.Asn298His) rs1404705545
NM_004370.6(COL12A1):c.8931T>C (p.Pro2977=) rs2149326774
NM_004370.6(COL12A1):c.8941+14G>C
NM_004370.6(COL12A1):c.8941+16T>C
NM_004370.6(COL12A1):c.8942-14T>G
NM_004370.6(COL12A1):c.8942-5C>A
NM_004370.6(COL12A1):c.8994G>A (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.8994G>C (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.8994G>T (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.9003C>A (p.Gly3001=) rs1281725784
NM_004370.6(COL12A1):c.9011-20T>A rs1336319358
NM_004370.6(COL12A1):c.9011-20_9011-19del
NM_004370.6(COL12A1):c.9011-8C>T
NM_004370.6(COL12A1):c.9039A>C (p.Pro3013=)
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=) rs572512247
NM_004370.6(COL12A1):c.9084T>C (p.Arg3028=) rs1448973629
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=) rs777425494
NM_004370.6(COL12A1):c.9108A>T (p.Gly3036=)
NM_004370.6(COL12A1):c.9119C>T (p.Pro3040Leu)
NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro)
NM_004370.6(COL12A1):c.9168G>A (p.Gly3056=)
NM_004370.6(COL12A1):c.9181+11G>A
NM_004370.6(COL12A1):c.9181+16T>C
NM_004370.6(COL12A1):c.9181+18T>C
NM_004370.6(COL12A1):c.9181+20G>A
NM_004370.6(COL12A1):c.9182-11A>G
NM_004370.6(COL12A1):c.9182-19C>A rs1767498861
NM_004370.6(COL12A1):c.939C>T (p.Ile313=)
NM_004370.6(COL12A1):c.974G>A (p.Gly325Asp)
NM_004370.6(COL12A1):c.997+15T>G rs2149473736
NM_004370.6(COL12A1):c.997+7A>G
NM_004370.6(COL12A1):c.997+9A>G rs560228996
NM_004370.6(COL12A1):c.998-15C>T
NM_004370.6(COL12A1):c.998-17T>C
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_007255.3(B4GALT7):c.105C>T (p.Phe35=)
NM_007255.3(B4GALT7):c.135C>T (p.Ser45=)
NM_007255.3(B4GALT7):c.171G>A (p.Val57=)
NM_007255.3(B4GALT7):c.18G>A (p.Arg6=)
NM_007255.3(B4GALT7):c.204C>A (p.Thr68=) rs1767919814
NM_007255.3(B4GALT7):c.240C>T (p.Pro80=) rs377379133
NM_007255.3(B4GALT7):c.246G>A (p.Glu82=)
NM_007255.3(B4GALT7):c.261C>T (p.Asp87=)
NM_007255.3(B4GALT7):c.267C>T (p.Ser89=)
NM_007255.3(B4GALT7):c.27G>A (p.Ala9=) rs1448005107
NM_007255.3(B4GALT7):c.283C>T (p.Leu95=)
NM_007255.3(B4GALT7):c.300C>T (p.Pro100=)
NM_007255.3(B4GALT7):c.324C>T (p.Leu108=) rs1767927262
NM_007255.3(B4GALT7):c.33G>A (p.Leu11=) rs1005210482
NM_007255.3(B4GALT7):c.351C>T (p.Arg117=)
NM_007255.3(B4GALT7):c.396C>T (p.Asn132=)
NM_007255.3(B4GALT7):c.408C>T (p.His136=)
NM_007255.3(B4GALT7):c.413+12C>T
NM_007255.3(B4GALT7):c.413+13C>T
NM_007255.3(B4GALT7):c.413+14C>T
NM_007255.3(B4GALT7):c.413+15C>T rs757790046
NM_007255.3(B4GALT7):c.413+16A>C rs1767932065
NM_007255.3(B4GALT7):c.413+16A>G
NM_007255.3(B4GALT7):c.413+17C>G
NM_007255.3(B4GALT7):c.413+17C>T
NM_007255.3(B4GALT7):c.413+19C>T
NM_007255.3(B4GALT7):c.421C>A (p.Arg141=)
NM_007255.3(B4GALT7):c.429G>A (p.Ala143=)
NM_007255.3(B4GALT7):c.438C>T (p.Asn146=)
NM_007255.3(B4GALT7):c.486C>T (p.His162=)
NM_007255.3(B4GALT7):c.492T>C (p.Val164=)
NM_007255.3(B4GALT7):c.50+14G>A
NM_007255.3(B4GALT7):c.50+5GCG[4]
NM_007255.3(B4GALT7):c.51-11G>A rs763444666
NM_007255.3(B4GALT7):c.51-19T>C
NM_007255.3(B4GALT7):c.51-20C>G
NM_007255.3(B4GALT7):c.51-4C>T
NM_007255.3(B4GALT7):c.510C>T (p.Asn170=)
NM_007255.3(B4GALT7):c.519G>A (p.Leu173=)
NM_007255.3(B4GALT7):c.54C>T (p.Ser18=)
NM_007255.3(B4GALT7):c.564G>T (p.Pro188=)
NM_007255.3(B4GALT7):c.579C>T (p.Leu193=)
NM_007255.3(B4GALT7):c.57G>A (p.Gly19=)
NM_007255.3(B4GALT7):c.585C>T (p.His195=)
NM_007255.3(B4GALT7):c.597T>C (p.Tyr199=) rs560198890
NM_007255.3(B4GALT7):c.633C>T (p.Tyr211=)
NM_007255.3(B4GALT7):c.636G>A (p.Arg212=)
NM_007255.3(B4GALT7):c.639+10G>A rs1023872849
NM_007255.3(B4GALT7):c.639+13C>A rs746538176
NM_007255.3(B4GALT7):c.639+9C>A
NM_007255.3(B4GALT7):c.639+9C>T
NM_007255.3(B4GALT7):c.640-14T>G
NM_007255.3(B4GALT7):c.648G>A (p.Gly216=)
NM_007255.3(B4GALT7):c.654C>T (p.Ser218=) rs780413704
NM_007255.3(B4GALT7):c.678C>T (p.Arg226=)
NM_007255.3(B4GALT7):c.684C>T (p.Asp228=)
NM_007255.3(B4GALT7):c.693C>T (p.Phe231=)
NM_007255.3(B4GALT7):c.705T>A (p.Ile235=)
NM_007255.3(B4GALT7):c.720C>T (p.Leu240=)
NM_007255.3(B4GALT7):c.723+12C>T
NM_007255.3(B4GALT7):c.723+13G>T rs775276570
NM_007255.3(B4GALT7):c.723+15del rs773263037
NM_007255.3(B4GALT7):c.723+18C>T
NM_007255.3(B4GALT7):c.724-20A>C
NM_007255.3(B4GALT7):c.724-21_724-19del rs2127514102
NM_007255.3(B4GALT7):c.724-6C>T
NM_007255.3(B4GALT7):c.72C>T (p.Gly24=)
NM_007255.3(B4GALT7):c.750T>C (p.Thr250=) rs772835831
NM_007255.3(B4GALT7):c.780C>T (p.Asp260=)
NM_007255.3(B4GALT7):c.786C>A (p.Ala262=)
NM_007255.3(B4GALT7):c.786C>T (p.Ala262=) rs757401980
NM_007255.3(B4GALT7):c.828+19A>G
NM_007255.3(B4GALT7):c.828+7G>C
NM_007255.3(B4GALT7):c.829-16C>A
NM_007255.3(B4GALT7):c.829-16C>T
NM_007255.3(B4GALT7):c.829-6C>T rs377212592
NM_007255.3(B4GALT7):c.840G>A (p.Lys280=)
NM_007255.3(B4GALT7):c.864C>T (p.Asn288=)
NM_007255.3(B4GALT7):c.888C>T (p.Ser296=)
NM_007255.3(B4GALT7):c.900G>A (p.Leu300=) rs1421610470
NM_007255.3(B4GALT7):c.915C>A (p.Ala305=)
NM_007255.3(B4GALT7):c.915C>T (p.Ala305=)
NM_007255.3(B4GALT7):c.918C>T (p.Pro306=) rs2127514617
NM_007255.3(B4GALT7):c.924T>A (p.Thr308=)
NM_007255.3(B4GALT7):c.927C>T (p.Val309=)
NM_007255.3(B4GALT7):c.945C>T (p.Asp315=) rs2127514653
NM_007255.3(B4GALT7):c.957C>G (p.Thr319=)
NM_007255.3(B4GALT7):c.957C>T (p.Thr319=) rs138973879
NM_007255.3(B4GALT7):c.960C>A (p.Ala320=)
NM_007255.3(B4GALT7):c.963A>G (p.Thr321=)
NM_013352.4(DSE):c.102C>T (p.Pro34=)
NM_013352.4(DSE):c.110A>T (p.Asn37Ile) rs371802983
NM_013352.4(DSE):c.1170A>G (p.Thr390=)
NM_013352.4(DSE):c.1197C>T (p.Val399=)
NM_013352.4(DSE):c.1284T>C (p.Tyr428=) rs1583235798
NM_013352.4(DSE):c.1293C>A (p.Val431=)
NM_013352.4(DSE):c.1323A>G (p.Lys441=)
NM_013352.4(DSE):c.1407T>C (p.Thr469=)
NM_013352.4(DSE):c.1416G>T (p.Leu472=)
NM_013352.4(DSE):c.144C>T (p.Phe48=)
NM_013352.4(DSE):c.1608C>T (p.Phe536=)
NM_013352.4(DSE):c.1614A>T (p.Arg538=)
NM_013352.4(DSE):c.1620A>G (p.Glu540=)
NM_013352.4(DSE):c.1635T>C (p.Tyr545=)
NM_013352.4(DSE):c.16C>A (p.Arg6=)
NM_013352.4(DSE):c.1752G>A (p.Ala584=)
NM_013352.4(DSE):c.1752G>C (p.Ala584=) rs561665809
NM_013352.4(DSE):c.1809T>C (p.His603=)
NM_013352.4(DSE):c.1897G>A (p.Val633Met) rs550208733
NM_013352.4(DSE):c.1911G>C (p.Arg637=) rs2115096083
NM_013352.4(DSE):c.192C>T (p.His64=)
NM_013352.4(DSE):c.1938T>C (p.Tyr646=)
NM_013352.4(DSE):c.2016G>A (p.Gln672=)
NM_013352.4(DSE):c.201T>A (p.Ile67=)
NM_013352.4(DSE):c.2031C>T (p.His677=)
NM_013352.4(DSE):c.2133G>A (p.Gln711=)
NM_013352.4(DSE):c.2196C>A (p.Val732=)
NM_013352.4(DSE):c.21G>C (p.Gly7=)
NM_013352.4(DSE):c.2358T>C (p.Thr786=) rs781704477
NM_013352.4(DSE):c.237G>A (p.Leu79=)
NM_013352.4(DSE):c.2619G>A (p.Gly873=)
NM_013352.4(DSE):c.2622C>T (p.Gly874=)
NM_013352.4(DSE):c.2637G>A (p.Arg879=)
NM_013352.4(DSE):c.2646G>A (p.Gln882=) rs2115099368
NM_013352.4(DSE):c.264C>G (p.Pro88=)
NM_013352.4(DSE):c.27C>A (p.Pro9=)
NM_013352.4(DSE):c.2838A>G (p.Leu946=)
NM_013352.4(DSE):c.33G>A (p.Val11=)
NM_013352.4(DSE):c.357C>T (p.Asn119=)
NM_013352.4(DSE):c.447C>T (p.Val149=)
NM_013352.4(DSE):c.670+18C>T
NM_013352.4(DSE):c.670+20A>G
NM_013352.4(DSE):c.681A>G (p.Gln227=)
NM_013352.4(DSE):c.69C>T (p.Tyr23=)
NM_013352.4(DSE):c.714C>T (p.Thr238=)
NM_013352.4(DSE):c.780G>T (p.Ala260=)
NM_013352.4(DSE):c.78C>T (p.Asp26=) rs146524076
NM_013352.4(DSE):c.807C>T (p.Leu269=)
NM_013352.4(DSE):c.910+10G>A
NM_013352.4(DSE):c.910+8G>A
NM_013352.4(DSE):c.910+9A>C
NM_013352.4(DSE):c.945T>C (p.Asn315=)
NM_013352.4(DSE):c.966A>G (p.Pro322=)
NM_013352.4(DSE):c.975A>G (p.Gln325=)
NM_013352.4(DSE):c.981G>A (p.Val327=) rs951430479
NM_014244.5(ADAMTS2):c.*1437_*1438del rs375426260
NM_014244.5(ADAMTS2):c.*1579_*1585del rs539443462
NM_014244.5(ADAMTS2):c.1002C>T (p.Asn334=) rs766934969
NM_014244.5(ADAMTS2):c.1008T>C (p.Ser336=) rs1581160048
NM_014244.5(ADAMTS2):c.1017G>A (p.Leu339=)
NM_014244.5(ADAMTS2):c.1020G>A (p.Glu340=) rs2113265237
NM_014244.5(ADAMTS2):c.1023T>C (p.Asn341=)
NM_014244.5(ADAMTS2):c.1026C>G (p.Val342=) rs1298706423
NM_014244.5(ADAMTS2):c.1029C>T (p.Cys343=) rs953931922
NM_014244.5(ADAMTS2):c.102C>T (p.Pro34=) rs1402048390
NM_014244.5(ADAMTS2):c.1038C>G (p.Ala346=)
NM_014244.5(ADAMTS2):c.1047G>A (p.Gln349=)
NM_014244.5(ADAMTS2):c.105G>A (p.Ala35=)
NM_014244.5(ADAMTS2):c.1077C>T (p.Tyr359=)
NM_014244.5(ADAMTS2):c.108C>T (p.Asn36=)
NM_014244.5(ADAMTS2):c.1098C>T (p.Leu366=) rs374671543
NM_014244.5(ADAMTS2):c.1110C>T (p.Asp370=)
NM_014244.5(ADAMTS2):c.111C>T (p.Ala37=) rs2127463854
NM_014244.5(ADAMTS2):c.1122C>G (p.Ser374=)
NM_014244.5(ADAMTS2):c.1132+11C>A
NM_014244.5(ADAMTS2):c.1132+16G>T
NM_014244.5(ADAMTS2):c.1132+17C>G
NM_014244.5(ADAMTS2):c.1132+7C>G
NM_014244.5(ADAMTS2):c.1132+9C>A rs1196360635
NM_014244.5(ADAMTS2):c.1133-10C>T rs934418118
NM_014244.5(ADAMTS2):c.1133-15C>T
NM_014244.5(ADAMTS2):c.1133-19G>T
NM_014244.5(ADAMTS2):c.1133-20C>T
NM_014244.5(ADAMTS2):c.1133-5C>A
NM_014244.5(ADAMTS2):c.1133-8C>T rs2113254774
NM_014244.5(ADAMTS2):c.1134C>T (p.Gly378=)
NM_014244.5(ADAMTS2):c.1149C>G (p.Thr383=) rs199664723
NM_014244.5(ADAMTS2):c.1161T>C (p.His387=) rs770426851
NM_014244.5(ADAMTS2):c.1170C>T (p.Arg390=)
NM_014244.5(ADAMTS2):c.117C>A (p.Leu39=) rs1323794483
NM_014244.5(ADAMTS2):c.117C>T (p.Leu39=)
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup) rs1174228917
NM_014244.5(ADAMTS2):c.1206A>G (p.Ser402=) rs2113254497
NM_014244.5(ADAMTS2):c.120C>A (p.Ala40=) rs2127463847
NM_014244.5(ADAMTS2):c.120C>G (p.Ala40=)
NM_014244.5(ADAMTS2):c.1221C>T (p.Ala407=)
NM_014244.5(ADAMTS2):c.1238+10del
NM_014244.5(ADAMTS2):c.1238+15G>A
NM_014244.5(ADAMTS2):c.1238+17A>G
NM_014244.5(ADAMTS2):c.1239-14C>T
NM_014244.5(ADAMTS2):c.1239-16G>A rs370225850
NM_014244.5(ADAMTS2):c.1239-17T>C
NM_014244.5(ADAMTS2):c.1239-6T>C
NM_014244.5(ADAMTS2):c.1245C>G (p.Gly415=)
NM_014244.5(ADAMTS2):c.1263G>A (p.Gln421=)
NM_014244.5(ADAMTS2):c.126C>T (p.Ala42=)
NM_014244.5(ADAMTS2):c.1291C>T (p.Leu431=) rs1445349116
NM_014244.5(ADAMTS2):c.1293G>A (p.Leu431=) rs952594565
NM_014244.5(ADAMTS2):c.129C>A (p.Ala43=) rs758316365
NM_014244.5(ADAMTS2):c.129C>G (p.Ala43=) rs758316365
NM_014244.5(ADAMTS2):c.129C>T (p.Ala43=) rs758316365
NM_014244.5(ADAMTS2):c.12G>T (p.Pro4=)
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.1308G>T (p.Ala436=)
NM_014244.5(ADAMTS2):c.1311C>A (p.Pro437=) rs1158008718
NM_014244.5(ADAMTS2):c.1311C>T (p.Pro437=) rs1158008718
NM_014244.5(ADAMTS2):c.1335C>T (p.Arg445=)
NM_014244.5(ADAMTS2):c.1356C>T (p.Ser452=) rs2113252195
NM_014244.5(ADAMTS2):c.1362G>A (p.Gln454=) rs2113252179
NM_014244.5(ADAMTS2):c.1365G>A (p.Glu455=)
NM_014244.5(ADAMTS2):c.1368G>A (p.Leu456=)
NM_014244.5(ADAMTS2):c.1378C>T (p.Leu460=) rs2113252098
NM_014244.5(ADAMTS2):c.1382+12C>A rs773245710
NM_014244.5(ADAMTS2):c.1382+14A>C
NM_014244.5(ADAMTS2):c.1382+17T>G
NM_014244.5(ADAMTS2):c.1382+19C>G
NM_014244.5(ADAMTS2):c.1383-11G>T
NM_014244.5(ADAMTS2):c.1383-15G>C
NM_014244.5(ADAMTS2):c.1383-16C>G
NM_014244.5(ADAMTS2):c.1383-4A>G
NM_014244.5(ADAMTS2):c.1383-6C>G
NM_014244.5(ADAMTS2):c.1383-6C>T
NM_014244.5(ADAMTS2):c.1383-7C>G
NM_014244.5(ADAMTS2):c.1383-8C>G rs748944006
NM_014244.5(ADAMTS2):c.1383-9C>A
NM_014244.5(ADAMTS2):c.1389T>C (p.Tyr463=)
NM_014244.5(ADAMTS2):c.139+12C>T
NM_014244.5(ADAMTS2):c.139+14G>A
NM_014244.5(ADAMTS2):c.139+17C>T
NM_014244.5(ADAMTS2):c.139+19C>T
NM_014244.5(ADAMTS2):c.1392C>T (p.Asp464=)
NM_014244.5(ADAMTS2):c.1396C>T (p.Leu466=)
NM_014244.5(ADAMTS2):c.140-10C>G rs2127463508
NM_014244.5(ADAMTS2):c.140-13C>T
NM_014244.5(ADAMTS2):c.140-15C>G
NM_014244.5(ADAMTS2):c.140-16C>T
NM_014244.5(ADAMTS2):c.140-17G>T
NM_014244.5(ADAMTS2):c.140-18C>A
NM_014244.5(ADAMTS2):c.140-18C>T
NM_014244.5(ADAMTS2):c.140-7G>A rs759954552
NM_014244.5(ADAMTS2):c.140-7G>C
NM_014244.5(ADAMTS2):c.140-9C>T
NM_014244.5(ADAMTS2):c.1407C>T (p.Asp469=) rs1763409611
NM_014244.5(ADAMTS2):c.1410C>G (p.Pro470=)
NM_014244.5(ADAMTS2):c.1434G>A (p.Leu478=)
NM_014244.5(ADAMTS2):c.144G>A (p.Gly48=) rs2127463501
NM_014244.5(ADAMTS2):c.1452G>A (p.Leu484=) rs2113250612
NM_014244.5(ADAMTS2):c.1479C>G (p.Arg493=) rs901870480
NM_014244.5(ADAMTS2):c.147C>T (p.Pro49=)
NM_014244.5(ADAMTS2):c.148C>T (p.Leu50=) rs1757867571
NM_014244.5(ADAMTS2):c.1491C>T (p.Gly497=)
NM_014244.5(ADAMTS2):c.1497C>G (p.Gly499=)
NM_014244.5(ADAMTS2):c.1500C>T (p.Tyr500=) rs1763406502
NM_014244.5(ADAMTS2):c.150G>T (p.Leu50=)
NM_014244.5(ADAMTS2):c.1512G>C (p.Thr504=) rs141369064
NM_014244.5(ADAMTS2):c.1515+10C>G rs1044323118
NM_014244.5(ADAMTS2):c.1515+17G>A
NM_014244.5(ADAMTS2):c.1515+18C>T rs771376424
NM_014244.5(ADAMTS2):c.1515+8T>C
NM_014244.5(ADAMTS2):c.1515+9G>T rs1269715966
NM_014244.5(ADAMTS2):c.1516-11C>T
NM_014244.5(ADAMTS2):c.1516-12G>A
NM_014244.5(ADAMTS2):c.1516-13T>C
NM_014244.5(ADAMTS2):c.1516-20_1516-19del
NM_014244.5(ADAMTS2):c.1516-4C>T
NM_014244.5(ADAMTS2):c.1516-7C>T
NM_014244.5(ADAMTS2):c.1530C>T (p.Asp510=) rs2113246787
NM_014244.5(ADAMTS2):c.1545G>A (p.Leu515=) rs2113246753
NM_014244.5(ADAMTS2):c.1560T>C (p.Pro520=) rs756375016
NM_014244.5(ADAMTS2):c.156C>T (p.His52=)
NM_014244.5(ADAMTS2):c.1575T>C (p.Phe525=)
NM_014244.5(ADAMTS2):c.1587G>A (p.Lys529=)
NM_014244.5(ADAMTS2):c.1593G>A (p.Gly531=)
NM_014244.5(ADAMTS2):c.1593G>C (p.Gly531=)
NM_014244.5(ADAMTS2):c.1599C>A (p.Pro533=)
NM_014244.5(ADAMTS2):c.1599C>T (p.Pro533=)
NM_014244.5(ADAMTS2):c.15G>C (p.Ala5=) rs1757918431
NM_014244.5(ADAMTS2):c.15G>T (p.Ala5=) rs1757918431
NM_014244.5(ADAMTS2):c.1602G>A (p.Leu534=)
NM_014244.5(ADAMTS2):c.1608G>T (p.Gly536=)
NM_014244.5(ADAMTS2):c.1611T>G (p.Thr537=)
NM_014244.5(ADAMTS2):c.1617T>C (p.Cys539=)
NM_014244.5(ADAMTS2):c.1626C>G (p.Gly542=)
NM_014244.5(ADAMTS2):c.1629+11A>C
NM_014244.5(ADAMTS2):c.1629+20T>C
NM_014244.5(ADAMTS2):c.1630-18T>G
NM_014244.5(ADAMTS2):c.1630-19C>A rs2113223531
NM_014244.5(ADAMTS2):c.1647C>T (p.His549=) rs2113223410
NM_014244.5(ADAMTS2):c.1650C>T (p.Cys550=)
NM_014244.5(ADAMTS2):c.1653C>T (p.Ile551=) rs747238964
NM_014244.5(ADAMTS2):c.1659G>A (p.Leu553=)
NM_014244.5(ADAMTS2):c.1665T>C (p.Pro555=) rs2113223348
NM_014244.5(ADAMTS2):c.1668C>T (p.Asp556=) rs2113223337
NM_014244.5(ADAMTS2):c.1686C>T (p.Gly562=)
NM_014244.5(ADAMTS2):c.1707G>C (p.Pro569=) rs749970172
NM_014244.5(ADAMTS2):c.1713C>T (p.Gly571=)
NM_014244.5(ADAMTS2):c.1725T>C (p.Arg575=) rs2113223195
NM_014244.5(ADAMTS2):c.1728C>T (p.Thr576=) rs776539764
NM_014244.5(ADAMTS2):c.1740C>T (p.Gly580=) rs745886151
NM_014244.5(ADAMTS2):c.1746G>A (p.Lys582=) rs1763133750
NM_014244.5(ADAMTS2):c.1750A>C (p.Arg584=) rs2113223107
NM_014244.5(ADAMTS2):c.1755C>T (p.Thr585=)
NM_014244.5(ADAMTS2):c.1775+13C>A rs2113223021
NM_014244.5(ADAMTS2):c.1775+9G>T rs2113223038
NM_014244.5(ADAMTS2):c.1776-10T>C
NM_014244.5(ADAMTS2):c.1776-11T>C rs1763095114
NM_014244.5(ADAMTS2):c.1776-19C>T
NM_014244.5(ADAMTS2):c.1776-7C>T
NM_014244.5(ADAMTS2):c.1776-8T>C rs1763095009
NM_014244.5(ADAMTS2):c.1776-8T>G
NM_014244.5(ADAMTS2):c.1776-9C>A
NM_014244.5(ADAMTS2):c.1776-9C>T rs1763095056
NM_014244.5(ADAMTS2):c.177G>A (p.Ala59=) rs2127463492
NM_014244.5(ADAMTS2):c.1782C>T (p.Ala594=)
NM_014244.5(ADAMTS2):c.1788G>A (p.Gly596=) rs2113218858
NM_014244.5(ADAMTS2):c.1791C>A (p.Gly597=)
NM_014244.5(ADAMTS2):c.1800C>T (p.Cys600=) rs2113218813
NM_014244.5(ADAMTS2):c.1803G>C (p.Ser601=)
NM_014244.5(ADAMTS2):c.1824G>A (p.Gln608=) rs1581147040
NM_014244.5(ADAMTS2):c.1830C>T (p.Cys610=) rs2113218723
NM_014244.5(ADAMTS2):c.1833C>T (p.Ser611=)
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=) rs375775300
NM_014244.5(ADAMTS2):c.183C>T (p.Pro61=) rs375775300
NM_014244.5(ADAMTS2):c.1845C>T (p.Cys615=)
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=) rs569510744
NM_014244.5(ADAMTS2):c.1866C>T (p.Phe622=)
NM_014244.5(ADAMTS2):c.1869C>A (p.Arg623=) rs376058580
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=) rs376058580
NM_014244.5(ADAMTS2):c.186G>A (p.Val62=) rs2127463488
NM_014244.5(ADAMTS2):c.18A>G (p.Gly6=)
NM_014244.5(ADAMTS2):c.1905G>A (p.Glu635=)
NM_014244.5(ADAMTS2):c.1911C>G (p.Gly637=) rs142275705
NM_014244.5(ADAMTS2):c.1917C>A (p.Ala639=)
NM_014244.5(ADAMTS2):c.1920G>A (p.Gln640=) rs2113218417
NM_014244.5(ADAMTS2):c.1923C>T (p.His641=) rs2113218407
NM_014244.5(ADAMTS2):c.192T>C (p.Thr64=)
NM_014244.5(ADAMTS2):c.192T>G (p.Thr64=) rs1276616753
NM_014244.5(ADAMTS2):c.1935C>G (p.Pro645=)
NM_014244.5(ADAMTS2):c.1938C>T (p.His646=) rs867867813
NM_014244.5(ADAMTS2):c.1941G>A (p.Glu647=)
NM_014244.5(ADAMTS2):c.1951+15G>A
NM_014244.5(ADAMTS2):c.1951+16A>G
NM_014244.5(ADAMTS2):c.1951+17G>A
NM_014244.5(ADAMTS2):c.1951+8C>G
NM_014244.5(ADAMTS2):c.1952-11T>C
NM_014244.5(ADAMTS2):c.1952-17A>C
NM_014244.5(ADAMTS2):c.1952-20C>G
NM_014244.5(ADAMTS2):c.1952-20C>T
NM_014244.5(ADAMTS2):c.1952-23_1952-16del rs773015606
NM_014244.5(ADAMTS2):c.1952-9C>G
NM_014244.5(ADAMTS2):c.1952-9C>T
NM_014244.5(ADAMTS2):c.1974C>T (p.Tyr658=)
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=) rs758599662
NM_014244.5(ADAMTS2):c.1989G>A (p.Glu663=)
NM_014244.5(ADAMTS2):c.1992C>T (p.Thr664=)
NM_014244.5(ADAMTS2):c.1995G>A (p.Gly665=)
NM_014244.5(ADAMTS2):c.2004G>A (p.Val668=) rs531056355
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2040C>T (p.Cys680=) rs2113214443
NM_014244.5(ADAMTS2):c.2043C>T (p.Ser681=) rs1239463457
NM_014244.5(ADAMTS2):c.2046C>T (p.Tyr682=) rs2113214436
NM_014244.5(ADAMTS2):c.204C>G (p.Gly68=) rs1264559270
NM_014244.5(ADAMTS2):c.2055C>T (p.Ala685=)
NM_014244.5(ADAMTS2):c.2058C>T (p.Phe686=)
NM_014244.5(ADAMTS2):c.2070G>A (p.Val690=)
NM_014244.5(ADAMTS2):c.2085+10C>T rs2113214298
NM_014244.5(ADAMTS2):c.2085+16C>T
NM_014244.5(ADAMTS2):c.2085+17C>A
NM_014244.5(ADAMTS2):c.2085+7A>T
NM_014244.5(ADAMTS2):c.2085+8C>T rs199825726
NM_014244.5(ADAMTS2):c.2086-10C>T
NM_014244.5(ADAMTS2):c.2086-14T>C
NM_014244.5(ADAMTS2):c.2086-15C>A
NM_014244.5(ADAMTS2):c.2086-15C>T
NM_014244.5(ADAMTS2):c.2086-5A>G
NM_014244.5(ADAMTS2):c.2086-6C>T rs2113206493
NM_014244.5(ADAMTS2):c.2086-7C>T
NM_014244.5(ADAMTS2):c.2086-9C>T rs2113206511
NM_014244.5(ADAMTS2):c.2094C>G (p.Gly698=)
NM_014244.5(ADAMTS2):c.2112C>T (p.Gly704=)
NM_014244.5(ADAMTS2):c.2130C>T (p.Asp710=)
NM_014244.5(ADAMTS2):c.2157C>T (p.Asn719=)
NM_014244.5(ADAMTS2):c.2163C>T (p.His721=) rs774087568
NM_014244.5(ADAMTS2):c.216C>A (p.Ser72=) rs754117015
NM_014244.5(ADAMTS2):c.216C>G (p.Ser72=) rs754117015
NM_014244.5(ADAMTS2):c.2175C>T (p.Val725=) rs2113206249
NM_014244.5(ADAMTS2):c.2196A>G (p.Ser732=)
NM_014244.5(ADAMTS2):c.21C>G (p.Ala7=) rs1757917963
NM_014244.5(ADAMTS2):c.21C>T (p.Ala7=)
NM_014244.5(ADAMTS2):c.2209+12C>T
NM_014244.5(ADAMTS2):c.2209+14T>G
NM_014244.5(ADAMTS2):c.2209+18C>T
NM_014244.5(ADAMTS2):c.2209+20C>A
NM_014244.5(ADAMTS2):c.2209+8G>C
NM_014244.5(ADAMTS2):c.2210-21_2210-20del rs531944108
NM_014244.5(ADAMTS2):c.2210-4A>C
NM_014244.5(ADAMTS2):c.2210-4A>T
NM_014244.5(ADAMTS2):c.2210-6A>C
NM_014244.5(ADAMTS2):c.2210-9C>T rs199874212
NM_014244.5(ADAMTS2):c.2214C>T (p.Tyr738=) rs769653741
NM_014244.5(ADAMTS2):c.2217C>T (p.Ile739=)
NM_014244.5(ADAMTS2):c.2226T>C (p.Phe742=)
NM_014244.5(ADAMTS2):c.222G>A (p.Val74=)
NM_014244.5(ADAMTS2):c.222G>C (p.Val74=) rs2127463467
NM_014244.5(ADAMTS2):c.2244C>T (p.Ala748=) rs1581143017
NM_014244.5(ADAMTS2):c.2262G>A (p.Gln754=) rs2113204986
NM_014244.5(ADAMTS2):c.2268A>T (p.Val756=)
NM_014244.5(ADAMTS2):c.228G>A (p.Ser76=) rs1162154516
NM_014244.5(ADAMTS2):c.228G>C (p.Ser76=)
NM_014244.5(ADAMTS2):c.2290+10A>G
NM_014244.5(ADAMTS2):c.2290+15C>A
NM_014244.5(ADAMTS2):c.2290+18A>G
NM_014244.5(ADAMTS2):c.2290+19C>T
NM_014244.5(ADAMTS2):c.2290+9C>T
NM_014244.5(ADAMTS2):c.2291-10C>T rs753601981
NM_014244.5(ADAMTS2):c.2291-17G>T
NM_014244.5(ADAMTS2):c.2291-18T>C
NM_014244.5(ADAMTS2):c.2291-4T>G rs2113200420
NM_014244.5(ADAMTS2):c.2291-9del
NM_014244.5(ADAMTS2):c.2295C>G (p.Val765=)
NM_014244.5(ADAMTS2):c.2304G>T (p.Leu768=) rs936271491
NM_014244.5(ADAMTS2):c.2310A>G (p.Thr770=) rs2113200354
NM_014244.5(ADAMTS2):c.2316G>A (p.Lys772=)
NM_014244.5(ADAMTS2):c.231A>C (p.Ala77=) rs2127463463
NM_014244.5(ADAMTS2):c.2331A>G (p.Glu777=) rs2113200307
NM_014244.5(ADAMTS2):c.2334G>A (p.Glu778=)
NM_014244.5(ADAMTS2):c.2340C>T (p.Asp780=)
NM_014244.5(ADAMTS2):c.2352T>C (p.Ser784=)
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=) rs745407557
NM_014244.5(ADAMTS2):c.2388G>A (p.Glu796=)
NM_014244.5(ADAMTS2):c.2418G>A (p.Leu806=) rs1191831330
NM_014244.5(ADAMTS2):c.2430C>A (p.Gly810=) rs762314815
NM_014244.5(ADAMTS2):c.243A>G (p.Arg81=)
NM_014244.5(ADAMTS2):c.2448C>T (p.Ile816=)
NM_014244.5(ADAMTS2):c.2454T>A (p.Val818=)
NM_014244.5(ADAMTS2):c.2454T>C (p.Val818=) rs2113199908
NM_014244.5(ADAMTS2):c.2455C>T (p.Leu819=)
NM_014244.5(ADAMTS2):c.2457+12C>G
NM_014244.5(ADAMTS2):c.2457+13A>C
NM_014244.5(ADAMTS2):c.2457+16G>C
NM_014244.5(ADAMTS2):c.2457+17C>T
NM_014244.5(ADAMTS2):c.2457+7C>A rs777818449
NM_014244.5(ADAMTS2):c.2457+7C>T
NM_014244.5(ADAMTS2):c.2458-10del rs748892203
NM_014244.5(ADAMTS2):c.2458-15C>G
NM_014244.5(ADAMTS2):c.2458-18G>T
NM_014244.5(ADAMTS2):c.2458-4dup rs2113196203
NM_014244.5(ADAMTS2):c.2458-6G>T
NM_014244.5(ADAMTS2):c.2466G>T (p.Pro822=) rs377085746
NM_014244.5(ADAMTS2):c.246A>G (p.Ala82=)
NM_014244.5(ADAMTS2):c.2472A>C (p.Gly824=) rs1581140650
NM_014244.5(ADAMTS2):c.2479C>A (p.Arg827=)
NM_014244.5(ADAMTS2):c.2487A>G (p.Ser829=) rs201592583
NM_014244.5(ADAMTS2):c.2493G>A (p.Thr831=) rs1210832473
NM_014244.5(ADAMTS2):c.2499A>G (p.Lys833=)
NM_014244.5(ADAMTS2):c.249G>A (p.Gly83=) rs1757863304
NM_014244.5(ADAMTS2):c.249G>C (p.Gly83=)
NM_014244.5(ADAMTS2):c.2502C>T (p.Tyr834=) rs1230842657
NM_014244.5(ADAMTS2):c.2508C>T (p.Ile836=) rs1275040573
NM_014244.5(ADAMTS2):c.2514G>A (p.Glu838=)
NM_014244.5(ADAMTS2):c.253C>A (p.Arg85=)
NM_014244.5(ADAMTS2):c.2541C>T (p.Asn847=) rs1436992389
NM_014244.5(ADAMTS2):c.2545C>T (p.Leu849=) rs1581140577
NM_014244.5(ADAMTS2):c.2547G>A (p.Leu849=) rs1202859803
NM_014244.5(ADAMTS2):c.2559T>A (p.Ser853=) rs772792600
NM_014244.5(ADAMTS2):c.255A>C (p.Arg85=)
NM_014244.5(ADAMTS2):c.2565C>A (p.Val855=) rs2113195729
NM_014244.5(ADAMTS2):c.2578C>T (p.Leu860=)
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=) rs886060497
NM_014244.5(ADAMTS2):c.2595G>A (p.Pro865=) rs142355768
NM_014244.5(ADAMTS2):c.2595G>T (p.Pro865=) rs142355768
NM_014244.5(ADAMTS2):c.2617+13C>A
NM_014244.5(ADAMTS2):c.2617+13C>T rs756651045
NM_014244.5(ADAMTS2):c.2617+14G>A rs753127866
NM_014244.5(ADAMTS2):c.2617+7G>A
NM_014244.5(ADAMTS2):c.2617+8G>A rs2113195552
NM_014244.5(ADAMTS2):c.2617+9G>A rs943437047
NM_014244.5(ADAMTS2):c.2617+9G>C
NM_014244.5(ADAMTS2):c.2617+9del rs745450151
NM_014244.5(ADAMTS2):c.2618-17G>A
NM_014244.5(ADAMTS2):c.2618-9T>C rs2113190668
NM_014244.5(ADAMTS2):c.261C>T (p.Arg87=)
NM_014244.5(ADAMTS2):c.2622C>T (p.Ser874=) rs2113190624
NM_014244.5(ADAMTS2):c.2631C>T (p.Thr877=) rs2113190594
NM_014244.5(ADAMTS2):c.2634G>A (p.Lys878=) rs370686613
NM_014244.5(ADAMTS2):c.2637T>C (p.Tyr879=) rs1762852594
NM_014244.5(ADAMTS2):c.2655G>A (p.Leu885=) rs2113190514
NM_014244.5(ADAMTS2):c.2673C>T (p.His891=)
NM_014244.5(ADAMTS2):c.267C>A (p.Ala89=) rs2127463442
NM_014244.5(ADAMTS2):c.267C>G (p.Ala89=) rs2127463442
NM_014244.5(ADAMTS2):c.267C>T (p.Ala89=)
NM_014244.5(ADAMTS2):c.2682C>T (p.Phe894=)
NM_014244.5(ADAMTS2):c.2691C>T (p.Ala897=)
NM_014244.5(ADAMTS2):c.2703C>G (p.Pro901=) rs2113190367
NM_014244.5(ADAMTS2):c.2703C>T (p.Pro901=)
NM_014244.5(ADAMTS2):c.2721G>C (p.Ala907=)
NM_014244.5(ADAMTS2):c.2730A>T (p.Pro910=) rs6869261
NM_014244.5(ADAMTS2):c.2739C>T (p.Cys913=)
NM_014244.5(ADAMTS2):c.273G>A (p.Pro91=) rs768036305
NM_014244.5(ADAMTS2):c.273G>T (p.Pro91=) rs768036305
NM_014244.5(ADAMTS2):c.2742C>G (p.Ser914=) rs567635584
NM_014244.5(ADAMTS2):c.2745G>A (p.Gln915=)
NM_014244.5(ADAMTS2):c.2748A>G (p.Pro916=) rs2113190158
NM_014244.5(ADAMTS2):c.2750+14G>A
NM_014244.5(ADAMTS2):c.2750+14G>C
NM_014244.5(ADAMTS2):c.2750+15C>T
NM_014244.5(ADAMTS2):c.2750+16T>C
NM_014244.5(ADAMTS2):c.2750+17C>T
NM_014244.5(ADAMTS2):c.2750+18G>A
NM_014244.5(ADAMTS2):c.2751-14C>T
NM_014244.5(ADAMTS2):c.2751-16C>T
NM_014244.5(ADAMTS2):c.2751-19C>G
NM_014244.5(ADAMTS2):c.2751-19C>T
NM_014244.5(ADAMTS2):c.2751-20G>A
NM_014244.5(ADAMTS2):c.2751-4G>T rs112155474
NM_014244.5(ADAMTS2):c.2751-8C>G
NM_014244.5(ADAMTS2):c.2757C>T (p.Val919=)
NM_014244.5(ADAMTS2):c.2787C>A (p.Thr929=) rs149424876
NM_014244.5(ADAMTS2):c.2787C>T (p.Thr929=) rs149424876
NM_014244.5(ADAMTS2):c.2790T>C (p.Cys930=)
NM_014244.5(ADAMTS2):c.2793G>A (p.Gly931=) rs2113187995
NM_014244.5(ADAMTS2):c.279G>C (p.Arg93=)
NM_014244.5(ADAMTS2):c.2814C>T (p.Arg938=)
NM_014244.5(ADAMTS2):c.2820G>A (p.Val940=) rs2113187899
NM_014244.5(ADAMTS2):c.282C>A (p.Thr94=)
NM_014244.5(ADAMTS2):c.282C>T (p.Thr94=)
NM_014244.5(ADAMTS2):c.2832G>A (p.Gln944=)
NM_014244.5(ADAMTS2):c.2853C>A (p.Thr951=) rs372360565
NM_014244.5(ADAMTS2):c.285G>C (p.Pro95=) rs1757861087
NM_014244.5(ADAMTS2):c.285G>T (p.Pro95=)
NM_014244.5(ADAMTS2):c.2889G>A (p.Arg963=)
NM_014244.5(ADAMTS2):c.2901C>T (p.Arg967=)
NM_014244.5(ADAMTS2):c.2904G>T (p.Arg968=)
NM_014244.5(ADAMTS2):c.2907C>T (p.Ala969=)
NM_014244.5(ADAMTS2):c.2916C>A (p.Arg972=) rs201390812
NM_014244.5(ADAMTS2):c.2925C>T (p.Cys975=) rs1762828613
NM_014244.5(ADAMTS2):c.2928T>C (p.Pro976=)
NM_014244.5(ADAMTS2):c.2938C>A (p.Arg980=)
NM_014244.5(ADAMTS2):c.2940A>C (p.Arg980=)
NM_014244.5(ADAMTS2):c.294C>A (p.Pro98=)
NM_014244.5(ADAMTS2):c.294C>G (p.Pro98=)
NM_014244.5(ADAMTS2):c.294C>T (p.Pro98=)
NM_014244.5(ADAMTS2):c.2955C>T (p.Ser985=)
NM_014244.5(ADAMTS2):c.2958+10C>G rs955501546
NM_014244.5(ADAMTS2):c.2958+10C>T rs955501546
NM_014244.5(ADAMTS2):c.2958+11C>A
NM_014244.5(ADAMTS2):c.2958+15G>A
NM_014244.5(ADAMTS2):c.2958+18C>A
NM_014244.5(ADAMTS2):c.2958+8A>G rs2113187351
NM_014244.5(ADAMTS2):c.2959-10C>A
NM_014244.5(ADAMTS2):c.2959-13T>C
NM_014244.5(ADAMTS2):c.2959-14C>T
NM_014244.5(ADAMTS2):c.2959-16G>T rs6863024
NM_014244.5(ADAMTS2):c.2959-4G>A rs2113181889
NM_014244.5(ADAMTS2):c.2959-5del
NM_014244.5(ADAMTS2):c.2959-6C>G rs2113181904
NM_014244.5(ADAMTS2):c.2959-7C>T
NM_014244.5(ADAMTS2):c.2961C>T (p.Cys987=) rs1581137330
NM_014244.5(ADAMTS2):c.2964A>G (p.Ser988=)
NM_014244.5(ADAMTS2):c.2970C>G (p.Thr990=)
NM_014244.5(ADAMTS2):c.297A>G (p.Gly99=)
NM_014244.5(ADAMTS2):c.2991G>A (p.Glu997=) rs1581137308
NM_014244.5(ADAMTS2):c.3000G>C (p.Val1000=)
NM_014244.5(ADAMTS2):c.3003C>T (p.Leu1001=) rs2113181708
NM_014244.5(ADAMTS2):c.3012C>A (p.Thr1004=) rs571054777
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=) rs571054777
NM_014244.5(ADAMTS2):c.3015G>A (p.Ala1005=)
NM_014244.5(ADAMTS2):c.3015G>T (p.Ala1005=) rs1462683964
NM_014244.5(ADAMTS2):c.3030C>A (p.Gly1010=)
NM_014244.5(ADAMTS2):c.3051T>C (p.Pro1017=) rs2113181493
NM_014244.5(ADAMTS2):c.3063G>A (p.Arg1021=)
NM_014244.5(ADAMTS2):c.3066C>T (p.Thr1022=)
NM_014244.5(ADAMTS2):c.3069C>T (p.Cys1023=) rs2113181422
NM_014244.5(ADAMTS2):c.3072G>A (p.Arg1024=)
NM_014244.5(ADAMTS2):c.3078C>A (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.3088+12G>A
NM_014244.5(ADAMTS2):c.3088+16C>G
NM_014244.5(ADAMTS2):c.3088+16_3088+17insGCGCCT
NM_014244.5(ADAMTS2):c.3088+7C>T
NM_014244.5(ADAMTS2):c.3089-13C>G
NM_014244.5(ADAMTS2):c.3089-17C>T
NM_014244.5(ADAMTS2):c.3089-19C>G
NM_014244.5(ADAMTS2):c.3089-20C>A
NM_014244.5(ADAMTS2):c.3089-20C>T
NM_014244.5(ADAMTS2):c.3089-6C>T rs1210414674
NM_014244.5(ADAMTS2):c.3089-8C>G
NM_014244.5(ADAMTS2):c.3089-8C>T
NM_014244.5(ADAMTS2):c.30C>A (p.Arg10=) rs1757917460
NM_014244.5(ADAMTS2):c.30C>T (p.Arg10=)
NM_014244.5(ADAMTS2):c.3102T>C (p.Asp1034=)
NM_014244.5(ADAMTS2):c.3105C>G (p.Pro1035=)
NM_014244.5(ADAMTS2):c.3108C>T (p.Ser1036=)
NM_014244.5(ADAMTS2):c.3117C>T (p.Ser1039=) rs1374731675
NM_014244.5(ADAMTS2):c.3147C>T (p.Asp1049=)
NM_014244.5(ADAMTS2):c.3156G>T (p.Ser1052=)
NM_014244.5(ADAMTS2):c.3159C>T (p.Pro1053=) rs1355717119
NM_014244.5(ADAMTS2):c.315T>C (p.Pro105=)
NM_014244.5(ADAMTS2):c.3174G>A (p.Ser1058=) rs1167217144
NM_014244.5(ADAMTS2):c.3174G>C (p.Ser1058=) rs1167217144
NM_014244.5(ADAMTS2):c.3174G>T (p.Ser1058=)
NM_014244.5(ADAMTS2):c.3178+10C>G
NM_014244.5(ADAMTS2):c.3178+11C>T
NM_014244.5(ADAMTS2):c.3178+12G>T rs1053898928
NM_014244.5(ADAMTS2):c.3178+15_3178+18del
NM_014244.5(ADAMTS2):c.3178+17T>C
NM_014244.5(ADAMTS2):c.3178+20C>T
NM_014244.5(ADAMTS2):c.3178+7G>C
NM_014244.5(ADAMTS2):c.3178+7G>T rs774767519
NM_014244.5(ADAMTS2):c.3178+8A>G rs2113178579
NM_014244.5(ADAMTS2):c.3179-14C>T
NM_014244.5(ADAMTS2):c.3179-19T>C
NM_014244.5(ADAMTS2):c.3179-4T>A rs2113162098
NM_014244.5(ADAMTS2):c.3204A>C (p.Ser1068=) rs2113162029
NM_014244.5(ADAMTS2):c.3216G>A (p.Arg1072=) rs1233299160
NM_014244.5(ADAMTS2):c.3231C>T (p.Ser1077=)
NM_014244.5(ADAMTS2):c.3234C>G (p.Arg1078=) rs1581132640
NM_014244.5(ADAMTS2):c.3237T>C (p.Tyr1079=) rs2113161951
NM_014244.5(ADAMTS2):c.3249A>C (p.Pro1083=) rs1581132628
NM_014244.5(ADAMTS2):c.3252C>T (p.Gly1084=) rs1402465914
NM_014244.5(ADAMTS2):c.3255C>T (p.Tyr1085=) rs1438867174
NM_014244.5(ADAMTS2):c.3291C>T (p.Asn1097=) rs1581132604
NM_014244.5(ADAMTS2):c.3300C>T (p.Thr1100=) rs1284339752
NM_014244.5(ADAMTS2):c.330C>T (p.Phe110=) rs2127463393
NM_014244.5(ADAMTS2):c.3312C>A (p.Gly1104=)
NM_014244.5(ADAMTS2):c.3330T>C (p.Pro1110=)
NM_014244.5(ADAMTS2):c.333C>T (p.Tyr111=)
NM_014244.5(ADAMTS2):c.3363T>C (p.Pro1121=)
NM_014244.5(ADAMTS2):c.3366C>T (p.Thr1122=) rs752223388
NM_014244.5(ADAMTS2):c.3369C>A (p.Leu1123=)
NM_014244.5(ADAMTS2):c.336T>C (p.Asn112=) rs1757858928
NM_014244.5(ADAMTS2):c.3372A>G (p.Pro1124=)
NM_014244.5(ADAMTS2):c.3375G>A (p.Val1125=)
NM_014244.5(ADAMTS2):c.3378C>G (p.Pro1126=)
NM_014244.5(ADAMTS2):c.3378C>T (p.Pro1126=) rs1412956412
NM_014244.5(ADAMTS2):c.3384A>G (p.Val1128=) rs2113161464
NM_014244.5(ADAMTS2):c.3396G>A (p.Val1132=) rs1762619793
NM_014244.5(ADAMTS2):c.339C>G (p.Val113=) rs143877087
NM_014244.5(ADAMTS2):c.33G>C (p.Leu11=)
NM_014244.5(ADAMTS2):c.3408A>G (p.Pro1136=)
NM_014244.5(ADAMTS2):c.3414C>T (p.Thr1138=)
NM_014244.5(ADAMTS2):c.3417C>G (p.Pro1139=)
NM_014244.5(ADAMTS2):c.3420G>C (p.Leu1140=) rs571329157
NM_014244.5(ADAMTS2):c.3438C>T (p.Ala1146=)
NM_014244.5(ADAMTS2):c.3447C>G (p.Thr1149=)
NM_014244.5(ADAMTS2):c.3459G>A (p.Glu1153=) rs2113161261
NM_014244.5(ADAMTS2):c.345C>T (p.Val115=) rs2127463388
NM_014244.5(ADAMTS2):c.3465C>T (p.His1155=) rs2113161239
NM_014244.5(ADAMTS2):c.3477T>C (p.Asn1159=) rs200636359
NM_014244.5(ADAMTS2):c.3480C>T (p.Ala1160=) rs34437036
NM_014244.5(ADAMTS2):c.3489A>G (p.Glu1163=) rs764091863
NM_014244.5(ADAMTS2):c.3508C>T (p.Leu1170=) rs769503304
NM_014244.5(ADAMTS2):c.3510G>A (p.Leu1170=) rs2113161090
NM_014244.5(ADAMTS2):c.3513A>G (p.Glu1171=)
NM_014244.5(ADAMTS2):c.351C>T (p.Gly117=)
NM_014244.5(ADAMTS2):c.3522C>A (p.Val1174=) rs1273934347
NM_014244.5(ADAMTS2):c.3537A>G (p.Leu1179=)
NM_014244.5(ADAMTS2):c.3543T>C (p.Pro1181=)
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu) rs150989902
NM_014244.5(ADAMTS2):c.3561T>C (p.Tyr1187=) rs752679558
NM_014244.5(ADAMTS2):c.3567G>A (p.Lys1189=)
NM_014244.5(ADAMTS2):c.3576C>T (p.Asn1192=)
NM_014244.5(ADAMTS2):c.3591G>A (p.Glu1197=)
NM_014244.5(ADAMTS2):c.3594C>T (p.Leu1198=)
NM_014244.5(ADAMTS2):c.3597T>C (p.Ile1199=) rs1245816073
NM_014244.5(ADAMTS2):c.360G>T (p.Leu120=)
NM_014244.5(ADAMTS2):c.3615A>G (p.Lys1205=)
NM_014244.5(ADAMTS2):c.3627A>G (p.Gly1209=) rs1290092850
NM_014244.5(ADAMTS2):c.369G>T (p.Arg123=)
NM_014244.5(ADAMTS2):c.378C>T (p.Pro126=) rs1235773868
NM_014244.5(ADAMTS2):c.396G>T (p.Ala132=) rs770621969
NM_014244.5(ADAMTS2):c.39C>T (p.Cys13=) rs2127463927
NM_014244.5(ADAMTS2):c.408T>C (p.Thr136=) rs2127463354
NM_014244.5(ADAMTS2):c.42C>G (p.Pro14=) rs1581302053
NM_014244.5(ADAMTS2):c.435C>T (p.Thr145=) rs2127463343
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.5(ADAMTS2):c.450C>A (p.Pro150=)
NM_014244.5(ADAMTS2):c.459G>A (p.Gly153=)
NM_014244.5(ADAMTS2):c.45G>C (p.Ala15=)
NM_014244.5(ADAMTS2):c.474C>T (p.Val158=)
NM_014244.5(ADAMTS2):c.47TGC[10] (p.Leu22_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.486C>G (p.Ala162=)
NM_014244.5(ADAMTS2):c.486C>T (p.Ala162=) rs774428426
NM_014244.5(ADAMTS2):c.48G>A (p.Leu16=) rs1342781405
NM_014244.5(ADAMTS2):c.492A>G (p.Leu164=) rs1581299393
NM_014244.5(ADAMTS2):c.495C>G (p.Ala165=) rs1757852530
NM_014244.5(ADAMTS2):c.510G>C (p.Val170=) rs2127463299
NM_014244.5(ADAMTS2):c.531G>C (p.Gly177=) rs2127463290
NM_014244.5(ADAMTS2):c.534+13T>G
NM_014244.5(ADAMTS2):c.534+14T>C
NM_014244.5(ADAMTS2):c.534+15C>G
NM_014244.5(ADAMTS2):c.534+17C>G
NM_014244.5(ADAMTS2):c.534+17C>T
NM_014244.5(ADAMTS2):c.534+19A>G
NM_014244.5(ADAMTS2):c.534+20del
NM_014244.5(ADAMTS2):c.534+8C>A
NM_014244.5(ADAMTS2):c.534+8C>G
NM_014244.5(ADAMTS2):c.534+8C>T
NM_014244.5(ADAMTS2):c.534+9G>A rs2271213
NM_014244.5(ADAMTS2):c.534+9G>T rs2271213
NM_014244.5(ADAMTS2):c.535-13C>T
NM_014244.5(ADAMTS2):c.535-17T>C
NM_014244.5(ADAMTS2):c.535-21_535-11del
NM_014244.5(ADAMTS2):c.535-6C>A
NM_014244.5(ADAMTS2):c.535-7C>G
NM_014244.5(ADAMTS2):c.535-7C>T rs372454455
NM_014244.5(ADAMTS2):c.535-8T>C
NM_014244.5(ADAMTS2):c.543G>C (p.Leu181=) rs1349808338
NM_014244.5(ADAMTS2):c.555G>A (p.Glu185=) rs1355953711
NM_014244.5(ADAMTS2):c.570C>T (p.Phe190=)
NM_014244.5(ADAMTS2):c.573C>T (p.Ile191=) rs774498509
NM_014244.5(ADAMTS2):c.579C>G (p.Pro193=) rs1766588917
NM_014244.5(ADAMTS2):c.580T>C (p.Leu194=) rs1554094148
NM_014244.5(ADAMTS2):c.592C>T (p.Leu198=)
NM_014244.5(ADAMTS2):c.594G>A (p.Leu198=) rs1766588483
NM_014244.5(ADAMTS2):c.600G>C (p.Ala200=) rs761444202
NM_014244.5(ADAMTS2):c.600G>T (p.Ala200=) rs761444202
NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr) rs543859669
NM_014244.5(ADAMTS2):c.612G>A (p.Glu204=)
NM_014244.5(ADAMTS2):c.618C>A (p.Gly206=) rs1253142639
NM_014244.5(ADAMTS2):c.621T>C (p.Arg207=) rs763850575
NM_014244.5(ADAMTS2):c.624G>A (p.Val208=)
NM_014244.5(ADAMTS2):c.633G>A (p.Val211=)
NM_014244.5(ADAMTS2):c.63G>C (p.Leu21=) rs2127463907
NM_014244.5(ADAMTS2):c.642G>A (p.Arg214=)
NM_014244.5(ADAMTS2):c.648C>A (p.Pro216=) rs2113513153
NM_014244.5(ADAMTS2):c.64C>T (p.Leu22=) rs2127463905
NM_014244.5(ADAMTS2):c.654C>A (p.Ser218=) rs1581236091
NM_014244.5(ADAMTS2):c.654C>G (p.Ser218=) rs1581236091
NM_014244.5(ADAMTS2):c.654C>T (p.Ser218=)
NM_014244.5(ADAMTS2):c.666G>A (p.Gly222=)
NM_014244.5(ADAMTS2):c.669G>A (p.Gly223=) rs886060495
NM_014244.5(ADAMTS2):c.66G>C (p.Leu22=) rs1757914356
NM_014244.5(ADAMTS2):c.672A>G (p.Pro224=) rs1386741882
NM_014244.5(ADAMTS2):c.678C>T (p.Ala226=) rs766547415
NM_014244.5(ADAMTS2):c.679C>T (p.Leu227=)
NM_014244.5(ADAMTS2):c.681G>A (p.Leu227=) rs1394677898
NM_014244.5(ADAMTS2):c.688+12G>A
NM_014244.5(ADAMTS2):c.688+9A>G
NM_014244.5(ADAMTS2):c.689-10C>T rs761165003
NM_014244.5(ADAMTS2):c.689-11T>C rs1269138698
NM_014244.5(ADAMTS2):c.689-12C>G
NM_014244.5(ADAMTS2):c.689-12C>T
NM_014244.5(ADAMTS2):c.689-5T>G
NM_014244.5(ADAMTS2):c.689-6T>C
NM_014244.5(ADAMTS2):c.689-7C>T
NM_014244.5(ADAMTS2):c.689-8C>T
NM_014244.5(ADAMTS2):c.689-9T>C rs2113374801
NM_014244.5(ADAMTS2):c.690G>C (p.Gly230=) rs138176208
NM_014244.5(ADAMTS2):c.699G>A (p.Leu233=)
NM_014244.5(ADAMTS2):c.69G>A (p.Leu23=)
NM_014244.5(ADAMTS2):c.702C>T (p.Asp234=)
NM_014244.5(ADAMTS2):c.706C>T (p.Leu236=) rs2113374688
NM_014244.5(ADAMTS2):c.711C>T (p.Asp237=)
NM_014244.5(ADAMTS2):c.714C>T (p.Ser238=) rs2113374639
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.720C>T (p.Ser240=)
NM_014244.5(ADAMTS2):c.722_723delinsAT (p.Arg241His) rs2113374579
NM_014244.5(ADAMTS2):c.723C>A (p.Arg241=)
NM_014244.5(ADAMTS2):c.726C>G (p.Ala242=)
NM_014244.5(ADAMTS2):c.726C>T (p.Ala242=) rs767903981
NM_014244.5(ADAMTS2):c.738A>G (p.Leu246=) rs2113374482
NM_014244.5(ADAMTS2):c.750C>T (p.Ala250=) rs2113374415
NM_014244.5(ADAMTS2):c.753C>T (p.Asn251=)
NM_014244.5(ADAMTS2):c.759G>C (p.Ser253=)
NM_014244.5(ADAMTS2):c.75G>A (p.Pro25=)
NM_014244.5(ADAMTS2):c.75G>T (p.Pro25=) rs965841596
NM_014244.5(ADAMTS2):c.763C>A (p.Arg255=) rs767850400
NM_014244.5(ADAMTS2):c.768G>A (p.Arg256=) rs2113374347
NM_014244.5(ADAMTS2):c.783T>C (p.Ala261=) rs2113374285
NM_014244.5(ADAMTS2):c.795C>T (p.Asp265=)
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014244.5(ADAMTS2):c.816G>A (p.Leu272=) rs2113374177
NM_014244.5(ADAMTS2):c.81C>T (p.Leu27=) rs1288102968
NM_014244.5(ADAMTS2):c.825T>C (p.Asp275=) rs1398080224
NM_014244.5(ADAMTS2):c.834G>A (p.Val278=)
NM_014244.5(ADAMTS2):c.840G>A (p.Gln280=)
NM_014244.5(ADAMTS2):c.84G>T (p.Leu28=)
NM_014244.5(ADAMTS2):c.855G>A (p.Glu285=) rs2113374083
NM_014244.5(ADAMTS2):c.867G>A (p.Lys289=) rs1191391499
NM_014244.5(ADAMTS2):c.874C>T (p.Leu292=)
NM_014244.5(ADAMTS2):c.876G>A (p.Leu292=) rs2113374018
NM_014244.5(ADAMTS2):c.891+13G>A
NM_014244.5(ADAMTS2):c.891+14C>G
NM_014244.5(ADAMTS2):c.891+14C>T
NM_014244.5(ADAMTS2):c.891+15T>G
NM_014244.5(ADAMTS2):c.891+17A>G
NM_014244.5(ADAMTS2):c.891+19G>A
NM_014244.5(ADAMTS2):c.891+7G>C
NM_014244.5(ADAMTS2):c.891+7G>T rs770674772
NM_014244.5(ADAMTS2):c.891+8G>A
NM_014244.5(ADAMTS2):c.892-11G>C
NM_014244.5(ADAMTS2):c.892-7C>G
NM_014244.5(ADAMTS2):c.918C>G (p.Ser306=) rs761998633
NM_014244.5(ADAMTS2):c.918C>T (p.Ser306=) rs761998633
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=) rs1764038673
NM_014244.5(ADAMTS2):c.927C>T (p.Ala309=) rs143588140
NM_014244.5(ADAMTS2):c.930C>T (p.His310=) rs2113312045
NM_014244.5(ADAMTS2):c.945G>A (p.Leu315=)
NM_014244.5(ADAMTS2):c.961C>T (p.Leu321=)
NM_014244.5(ADAMTS2):c.963G>C (p.Leu321=)
NM_014244.5(ADAMTS2):c.966C>T (p.Ser322=) rs2113311944
NM_014244.5(ADAMTS2):c.96G>A (p.Pro32=)
NM_014244.5(ADAMTS2):c.975+18A>G
NM_014244.5(ADAMTS2):c.975+19G>C
NM_014244.5(ADAMTS2):c.976-13C>T
NM_014244.5(ADAMTS2):c.976-14C>A
NM_014244.5(ADAMTS2):c.976-14C>T
NM_014244.5(ADAMTS2):c.976-16C>T
NM_014244.5(ADAMTS2):c.976-18C>A
NM_014244.5(ADAMTS2):c.976-20T>A
NM_014244.5(ADAMTS2):c.976-6C>T
NM_014244.5(ADAMTS2):c.976-7C>T
NM_014244.5(ADAMTS2):c.999G>A (p.Gly333=) rs2113265276
NM_014244.5(ADAMTS2):c.999G>C (p.Gly333=)
NM_014244.5(ADAMTS2):c.99G>A (p.Pro33=) rs1010032577
NM_014244.5(ADAMTS2):c.99G>C (p.Pro33=)
NM_014244.5(ADAMTS2):c.99G>T (p.Pro33=)
NM_014244.5(ADAMTS2):c.9G>A (p.Pro3=) rs1757918952
NM_017946.4(FKBP14):c.105A>G (p.Pro35=) rs1790174432
NM_017946.4(FKBP14):c.114C>T (p.Cys38=)
NM_017946.4(FKBP14):c.139T>C (p.Leu47=) rs1562840763
NM_017946.4(FKBP14):c.186A>G (p.Leu62=)
NM_017946.4(FKBP14):c.197+6dup
NM_017946.4(FKBP14):c.198-19T>G rs1562839339
NM_017946.4(FKBP14):c.198-4A>G rs2127949590
NM_017946.4(FKBP14):c.198-8T>C
NM_017946.4(FKBP14):c.204A>G (p.Lys68=)
NM_017946.4(FKBP14):c.222C>T (p.Pro74=) rs2127949564
NM_017946.4(FKBP14):c.24G>T (p.Ala8=)
NM_017946.4(FKBP14):c.306G>A (p.Lys102=)
NM_017946.4(FKBP14):c.325C>T (p.Leu109=) rs2127949515
NM_017946.4(FKBP14):c.349+10T>G rs369590377
NM_017946.4(FKBP14):c.349+18T>C
NM_017946.4(FKBP14):c.350-13T>C
NM_017946.4(FKBP14):c.350-17T>C
NM_017946.4(FKBP14):c.350-18C>T
NM_017946.4(FKBP14):c.350-7A>G
NM_017946.4(FKBP14):c.351T>C (p.Gly117=)
NM_017946.4(FKBP14):c.36G>C (p.Leu12=)
NM_017946.4(FKBP14):c.393C>A (p.Leu131=)
NM_017946.4(FKBP14):c.426A>G (p.Glu142=)
NM_017946.4(FKBP14):c.429A>G (p.Ser143=)
NM_017946.4(FKBP14):c.432C>T (p.Phe144=)
NM_017946.4(FKBP14):c.477+15_477+17del rs766444580
NM_017946.4(FKBP14):c.477+20A>C
NM_017946.4(FKBP14):c.477+20A>T
NM_017946.4(FKBP14):c.477+7T>A rs2127948243
NM_017946.4(FKBP14):c.478-14C>G rs1218557130
NM_017946.4(FKBP14):c.478-18G>T
NM_017946.4(FKBP14):c.478-19G>A rs1278077747
NM_017946.4(FKBP14):c.478-20T>C
NM_017946.4(FKBP14):c.486A>C (p.Ala162=) rs370487182
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del) rs542254849
NM_017946.4(FKBP14):c.519G>A (p.Ala173=)
NM_017946.4(FKBP14):c.54T>C (p.Ile18=)
NM_017946.4(FKBP14):c.555G>A (p.Glu185=)
NM_017946.4(FKBP14):c.558T>C (p.Asp186=) rs1789837091
NM_017946.4(FKBP14):c.561T>A (p.Ile187=) rs2127946638
NM_017946.4(FKBP14):c.576T>C (p.Asp192=)
NM_017946.4(FKBP14):c.57G>A (p.Gly19=) rs2127950905
NM_017946.4(FKBP14):c.591G>T (p.Gly197=)
NM_017946.4(FKBP14):c.615A>G (p.Thr205=)
NM_017946.4(FKBP14):c.624C>T (p.His208=) rs757161961
NM_017946.4(FKBP14):c.75A>G (p.Pro25=)
NM_017946.4(FKBP14):c.93T>G (p.Val31=)
NM_017946.4(FKBP14):c.99G>A (p.Gln33=)
NM_080605.4(B3GALT6):c.102C>G (p.Ala34=) rs1416591096
NM_080605.4(B3GALT6):c.129G>A (p.Ser43=)
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=) rs868472493
NM_080605.4(B3GALT6):c.141G>A (p.Pro47=)
NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)
NM_080605.4(B3GALT6):c.198G>A (p.Ala66=)
NM_080605.4(B3GALT6):c.210C>A (p.Ala70=) rs1179179554
NM_080605.4(B3GALT6):c.213G>A (p.Glu71=)
NM_080605.4(B3GALT6):c.252C>G (p.Arg84=)
NM_080605.4(B3GALT6):c.255G>T (p.Gly85=) rs1372150716
NM_080605.4(B3GALT6):c.261G>A (p.Pro87=)
NM_080605.4(B3GALT6):c.261G>T (p.Pro87=)
NM_080605.4(B3GALT6):c.285C>A (p.Ala95=)
NM_080605.4(B3GALT6):c.285C>G (p.Ala95=) rs1557526065
NM_080605.4(B3GALT6):c.285C>T (p.Ala95=)
NM_080605.4(B3GALT6):c.324C>T (p.Ala108=)
NM_080605.4(B3GALT6):c.331C>A (p.Arg111=)
NM_080605.4(B3GALT6):c.336G>A (p.Glu112=)
NM_080605.4(B3GALT6):c.345G>A (p.Arg115=) rs1224612114
NM_080605.4(B3GALT6):c.357G>C (p.Leu119=)
NM_080605.4(B3GALT6):c.366G>T (p.Leu122=)
NM_080605.4(B3GALT6):c.384C>G (p.Ala128=) rs1570498417
NM_080605.4(B3GALT6):c.393C>T (p.Asn131=) rs1255662040
NM_080605.4(B3GALT6):c.409C>T (p.Leu137=)
NM_080605.4(B3GALT6):c.456G>C (p.Val152=)
NM_080605.4(B3GALT6):c.459C>G (p.Leu153=)
NM_080605.4(B3GALT6):c.459C>T (p.Leu153=) rs753855818
NM_080605.4(B3GALT6):c.462G>A (p.Lys154=)
NM_080605.4(B3GALT6):c.489G>A (p.Leu163=) rs1305970798
NM_080605.4(B3GALT6):c.48G>A (p.Leu16=) rs1570497749
NM_080605.4(B3GALT6):c.495G>A (p.Ala165=)
NM_080605.4(B3GALT6):c.499C>T (p.Leu167=)
NM_080605.4(B3GALT6):c.504C>G (p.Ala168=)
NM_080605.4(B3GALT6):c.519C>T (p.Arg173=)
NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=)
NM_080605.4(B3GALT6):c.555C>T (p.Phe185=)
NM_080605.4(B3GALT6):c.558C>T (p.Phe186=)
NM_080605.4(B3GALT6):c.55C>T (p.Leu19=)
NM_080605.4(B3GALT6):c.573C>G (p.Arg191=)
NM_080605.4(B3GALT6):c.576C>G (p.Val192=) rs762952410
NM_080605.4(B3GALT6):c.582G>C (p.Pro194=) rs532162467
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.585G>A (p.Gly195=) rs562616873
NM_080605.4(B3GALT6):c.591C>G (p.Arg197=)
NM_080605.4(B3GALT6):c.597C>T (p.Arg199=)
NM_080605.4(B3GALT6):c.621C>T (p.Asp207=)
NM_080605.4(B3GALT6):c.670C>T (p.Leu224=)
NM_080605.4(B3GALT6):c.682C>T (p.Leu228=)
NM_080605.4(B3GALT6):c.687C>T (p.Arg229=)
NM_080605.4(B3GALT6):c.690C>T (p.Leu230=)
NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=)
NM_080605.4(B3GALT6):c.762C>A (p.Val254=) rs2100994568
NM_080605.4(B3GALT6):c.81C>A (p.Leu27=) rs1334196295
NM_080605.4(B3GALT6):c.828G>C (p.Leu276=) rs1471341896
NM_080605.4(B3GALT6):c.847C>T (p.Leu283=)
NM_080605.4(B3GALT6):c.864G>A (p.Glu288=)
NM_080605.4(B3GALT6):c.877C>T (p.Leu293=)
NM_080605.4(B3GALT6):c.903G>A (p.Lys301=)
NM_080605.4(B3GALT6):c.90G>A (p.Ala30=) rs1638533336
NM_080605.4(B3GALT6):c.918G>A (p.Leu306=)
NM_080605.4(B3GALT6):c.918G>T (p.Leu306=)
NM_080605.4(B3GALT6):c.96C>T (p.Cys32=)
NM_080605.4(B3GALT6):c.989G>A (p.Ter330=)
NM_130468.4(CHST14):c.1038C>T (p.Ala346=)
NM_130468.4(CHST14):c.1062G>A (p.Lys354=)
NM_130468.4(CHST14):c.1086T>C (p.Phe362=) rs2141571343
NM_130468.4(CHST14):c.1101T>C (p.Pro367=) rs1189242847
NM_130468.4(CHST14):c.1104T>C (p.Asn368=) rs1351942431
NM_130468.4(CHST14):c.111G>T (p.Pro37=)
NM_130468.4(CHST14):c.114C>G (p.Pro38=) rs2141570382
NM_130468.4(CHST14):c.117G>A (p.Leu39=) rs2141570389
NM_130468.4(CHST14):c.135G>C (p.Leu45=)
NM_130468.4(CHST14):c.18G>T (p.Leu6=)
NM_130468.4(CHST14):c.216C>T (p.Pro72=)
NM_130468.4(CHST14):c.228C>A (p.Pro76=)
NM_130468.4(CHST14):c.234C>G (p.Arg78=)
NM_130468.4(CHST14):c.255G>A (p.Gly85=) rs2141570543
NM_130468.4(CHST14):c.303C>T (p.Asp101=) rs2141570597
NM_130468.4(CHST14):c.312G>T (p.Val104=)
NM_130468.4(CHST14):c.315G>T (p.Arg105=)
NM_130468.4(CHST14):c.336C>G (p.Thr112=)
NM_130468.4(CHST14):c.409C>T (p.Leu137=) rs2141570724
NM_130468.4(CHST14):c.462C>T (p.Val154=) rs1478974228
NM_130468.4(CHST14):c.48G>A (p.Glu16=)
NM_130468.4(CHST14):c.513C>T (p.Gly171=)
NM_130468.4(CHST14):c.516C>T (p.Val172=)
NM_130468.4(CHST14):c.609G>T (p.Leu203=) rs2141570922
NM_130468.4(CHST14):c.651A>G (p.Glu217=)
NM_130468.4(CHST14):c.681T>C (p.Phe227=)
NM_130468.4(CHST14):c.714G>C (p.Gly238=)
NM_130468.4(CHST14):c.747G>T (p.Ala249=)
NM_130468.4(CHST14):c.750G>T (p.Gly250=) rs1402353708
NM_130468.4(CHST14):c.834T>C (p.His278=)
NM_130468.4(CHST14):c.846G>A (p.Val282=)
NM_130468.4(CHST14):c.846G>C (p.Val282=) rs139191820
NM_130468.4(CHST14):c.849C>T (p.Tyr283=) rs1438289059
NM_130468.4(CHST14):c.90C>A (p.Ala30=)
NM_130468.4(CHST14):c.948A>G (p.Pro316=)
NM_130468.4(CHST14):c.984C>T (p.Tyr328=) rs747403269
NM_130468.4(CHST14):c.999C>T (p.Pro333=)

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