NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)
|
rs2734272
|
0.99956
|
NM_001365276.2(TNXB):c.*163G>A
|
rs1058152
|
0.54891
|
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
NM_000088.4(COL1A1):c.104-441G>T
|
rs1800012
|
0.13897
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_004370.6(COL12A1):c.4001-10G>A
|
rs73749974
|
0.02617
|
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr)
|
rs75535959
|
0.02433
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
NM_001365276.2(TNXB):c.11387-9T>C
|
rs2894233
|
0.01611
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=)
|
rs61744966
|
0.01027
|
NM_001365276.2(TNXB):c.10607-19C>A
|
rs773540524
|
0.01008
|
NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln)
|
rs149502087
|
0.00876
|
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile)
|
rs6910390
|
0.00842
|
NM_000093.5(COL5A1):c.5136+152C>T
|
rs113504942
|
0.00827
|
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_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)
|
rs75288466
|
0.00769
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
NM_000090.4(COL3A1):c.1816-19T>C
|
rs114299724
|
0.00647
|
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)
|
rs41263773
|
0.00608
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile)
|
rs17207902
|
0.00594
|
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=)
|
rs112581362
|
0.00587
|
NM_014244.5(ADAMTS2):c.1629+9G>A
|
rs115550684
|
0.00560
|
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln)
|
rs118086587
|
0.00554
|
NM_000093.5(COL5A1):c.5137-11T>C
|
rs183495554
|
0.00512
|
NM_000093.5(COL5A1):c.5137-12C>T
|
rs191758714
|
0.00488
|
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)
|
rs145178398
|
0.00473
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)
|
rs116794104
|
0.00432
|
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)
|
rs61729495
|
0.00394
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
NM_000093.5(COL5A1):c.1333-8A>G
|
rs145620416
|
0.00360
|
NM_004370.6(COL12A1):c.4000+5G>A
|
rs181257320
|
0.00349
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_000089.4(COL1A2):c.1036-14G>A
|
rs114322680
|
0.00338
|
NM_001365276.2(TNXB):c.2385A>G (p.Thr795=)
|
rs185461070
|
0.00300
|
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)
|
rs143443499
|
0.00283
|
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=)
|
rs115511838
|
0.00278
|
NM_004370.6(COL12A1):c.6068-14T>A
|
rs189714891
|
0.00278
|
NM_001365276.2(TNXB):c.12058+15G>A
|
rs762839811
|
0.00275
|
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)
|
rs117501524
|
0.00258
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_001365276.2(TNXB):c.7704T>C (p.Val2568=)
|
rs370919547
|
0.00243
|
NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr)
|
rs756508366
|
0.00233
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_001365276.2(TNXB):c.909C>G (p.Gly303=)
|
rs111244635
|
0.00214
|
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)
|
rs558108271
|
0.00208
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
NM_000088.4(COL1A1):c.4006-33G>A
|
rs201920224
|
0.00190
|
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)
|
rs35363262
|
0.00180
|
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys)
|
rs200668806
|
0.00179
|
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_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg)
|
rs201638755
|
0.00166
|
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)
|
rs540655479
|
0.00166
|
NM_013352.4(DSE):c.216G>A (p.Thr72=)
|
rs61747210
|
0.00164
|
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)
|
rs34147460
|
0.00159
|
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)
|
rs149200506
|
0.00158
|
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)
|
rs142476892
|
0.00150
|
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)
|
rs569602115
|
0.00135
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00133
|
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)
|
rs139726213
|
0.00120
|
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met)
|
rs536725615
|
0.00115
|
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)
|
rs138771398
|
0.00114
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
NM_001365276.2(TNXB):c.10713C>T (p.Ser3571=)
|
rs758424441
|
0.00072
|
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala)
|
rs273585627
|
0.00072
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00066
|
NM_000093.5(COL5A1):c.-364G>C
|
rs780212970
|
0.00064
|
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)
|
rs61737719
|
0.00062
|
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln)
|
rs184878358
|
0.00060
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)
|
rs571622809
|
0.00056
|
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_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys)
|
rs376513000
|
0.00052
|
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn)
|
rs202227084
|
0.00051
|
NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr)
|
rs756778483
|
0.00049
|
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_000393.5(COL5A2):c.1456-20T>C
|
rs150724439
|
0.00046
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)
|
rs200520924
|
0.00045
|
NM_000302.4(PLOD1):c.579+17G>A
|
rs181015965
|
0.00043
|
NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp)
|
rs369143302
|
0.00043
|
NM_001734.5(C1S):c.100A>G (p.Ser34Gly)
|
rs148105120
|
0.00043
|
NM_001110556.2(FLNA):c.3207+14G>A
|
rs200710010
|
0.00041
|
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg)
|
rs750481489
|
0.00041
|
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)
|
rs1131691530
|
0.00041
|
NM_001365276.2(TNXB):c.8468-1G>A
|
rs200718357
|
0.00039
|
NM_000090.4(COL3A1):c.*467T>A
|
rs886055341
|
0.00036
|
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg)
|
rs773925755
|
0.00034
|
NM_001733.7(C1R):c.277G>T (p.Gly93Cys)
|
rs200185988
|
0.00033
|
NM_000088.4(COL1A1):c.588+16G>A
|
rs191715075
|
0.00032
|
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr)
|
rs201540905
|
0.00032
|
NM_001734.5(C1S):c.979G>C (p.Val327Leu)
|
rs2239170
|
0.00032
|
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)
|
rs142114921
|
0.00031
|
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu)
|
rs201922477
|
0.00031
|
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)
|
rs116980451
|
0.00031
|
NM_014244.5(ADAMTS2):c.2933G>A (p.Arg978His)
|
rs201998372
|
0.00029
|
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=)
|
rs200570792
|
0.00026
|
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg)
|
rs576907642
|
0.00025
|
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)
|
rs201908251
|
0.00025
|
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)
|
rs55997127
|
0.00025
|
NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg)
|
rs200319996
|
0.00024
|
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)
|
rs369104842
|
0.00024
|
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)
|
rs375673671
|
0.00023
|
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met)
|
rs201603843
|
0.00022
|
NM_001365276.2(TNXB):c.12058+6T>G
|
rs761600175
|
0.00022
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
0.00021
|
NM_014244.5(ADAMTS2):c.3079C>T (p.Pro1027Ser)
|
rs546990509
|
0.00021
|
NM_001129.5(AEBP1):c.2183C>T (p.Pro728Leu)
|
rs562206142
|
0.00020
|
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp)
|
rs121909582
|
0.00020
|
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser)
|
rs61737942
|
0.00019
|
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)
|
rs375124784
|
0.00019
|
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)
|
rs766410344
|
0.00019
|
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)
|
rs200091648
|
0.00018
|
NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn)
|
rs200036158
|
0.00017
|
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys)
|
rs281865149
|
0.00017
|
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala)
|
rs546332627
|
0.00017
|
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=)
|
rs377413592
|
0.00017
|
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys)
|
rs146360295
|
0.00016
|
NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=)
|
rs375764263
|
0.00016
|
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)
|
rs112371422
|
0.00015
|
NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg)
|
rs199581373
|
0.00015
|
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)
|
rs200487396
|
0.00015
|
NM_014244.5(ADAMTS2):c.3028G>A (p.Gly1010Ser)
|
rs368690576
|
0.00015
|
NM_001365276.2(TNXB):c.7417C>T (p.Arg2473Cys)
|
rs373029180
|
0.00014
|
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys)
|
rs546141859
|
0.00014
|
NM_013352.4(DSE):c.240C>T (p.Ser80=)
|
rs143347973
|
0.00014
|
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)
|
rs201167346
|
0.00014
|
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)
|
rs767525556
|
0.00013
|
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln)
|
rs200490683
|
0.00013
|
NM_001365276.2(TNXB):c.4894A>G (p.Ile1632Val)
|
rs766602645
|
0.00013
|
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu)
|
rs777666112
|
0.00013
|
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser)
|
rs149708395
|
0.00013
|
NM_000090.4(COL3A1):c.*406A>G
|
rs770571552
|
0.00012
|
NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=)
|
rs767284056
|
0.00012
|
NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=)
|
rs761030884
|
0.00012
|
NM_018699.4(PRDM5):c.248G>A (p.Arg83His)
|
rs201945549
|
0.00012
|
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His)
|
rs144260440
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr)
|
rs142042452
|
0.00011
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)
|
rs201486858
|
0.00011
|
NM_001365276.2(TNXB):c.12210+5G>A
|
rs4959085
|
0.00011
|
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu)
|
rs754458926
|
0.00011
|
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala)
|
rs202197821
|
0.00011
|
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met)
|
rs374645024
|
0.00011
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp)
|
rs56345590
|
0.00010
|
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)
|
rs370767331
|
0.00010
|
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser)
|
rs528367185
|
0.00010
|
NM_000088.4(COL1A1):c.3531+4T>C
|
rs145251615
|
0.00009
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys)
|
rs369126350
|
0.00009
|
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=)
|
rs367979917
|
0.00009
|
NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp)
|
rs771249673
|
0.00009
|
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp)
|
rs770109867
|
0.00009
|
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val)
|
rs755348435
|
0.00009
|
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)
|
rs200167099
|
0.00009
|
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)
|
rs28937869
|
0.00009
|
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)
|
rs575285203
|
0.00008
|
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met)
|
rs150487609
|
0.00008
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)
|
rs760946138
|
0.00008
|
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)
|
rs782684339
|
0.00008
|
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg)
|
rs554985503
|
0.00008
|
NM_018699.4(PRDM5):c.300+17C>T
|
rs376707809
|
0.00008
|
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)
|
rs149858889
|
0.00007
|
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)
|
rs373448943
|
0.00007
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His)
|
rs567038987
|
0.00007
|
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys)
|
rs896312288
|
0.00007
|
NM_014244.5(ADAMTS2):c.2469G>A (p.Val823=)
|
rs182103023
|
0.00007
|
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.3779G>A (p.Arg1260His)
|
rs774001209
|
0.00006
|
NM_000088.4(COL1A1):c.4005+5G>A
|
rs778417218
|
0.00006
|
NM_000088.4(COL1A1):c.589-20T>C
|
rs370564344
|
0.00006
|
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)
|
rs201168934
|
0.00006
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)
|
rs200278401
|
0.00006
|
NM_000089.4(COL1A2):c.671G>A (p.Arg224His)
|
rs771139732
|
0.00006
|
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
|
rs200394946
|
0.00006
|
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile)
|
rs140257722
|
0.00006
|
NM_000090.4(COL3A1):c.1586T>C (p.Val529Ala)
|
rs201980471
|
0.00006
|
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)
|
rs139610730
|
0.00006
|
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln)
|
rs886038983
|
0.00006
|
NM_000093.5(COL5A1):c.3906+14C>T
|
rs377136680
|
0.00006
|
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)
|
rs770554435
|
0.00006
|
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)
|
rs144430633
|
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_001367624.2(ZNF469):c.2119C>T (p.Arg707Cys)
|
rs188954563
|
0.00006
|
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser)
|
rs537085488
|
0.00006
|
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)
|
rs761603858
|
0.00006
|
NM_001367624.2(ZNF469):c.8590C>G (p.Pro2864Ala)
|
rs751901105
|
0.00006
|
NM_001734.5(C1S):c.622T>C (p.Leu208=)
|
rs144205018
|
0.00006
|
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)
|
rs369193482
|
0.00006
|
NM_007255.3(B4GALT7):c.737C>T (p.Ser246Leu)
|
rs145692398
|
0.00006
|
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter)
|
rs137853146
|
0.00006
|
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu)
|
rs187637689
|
0.00006
|
NM_000088.4(COL1A1):c.1200+5G>A
|
rs374322003
|
0.00005
|
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His)
|
rs764780528
|
0.00005
|
NM_000090.4(COL3A1):c.1238G>A (p.Arg413Gln)
|
rs200446048
|
0.00005
|
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)
|
rs759580799
|
0.00005
|
NM_001365276.2(TNXB):c.2224G>A (p.Gly742Ser)
|
rs372262597
|
0.00005
|
NM_001365276.2(TNXB):c.6469C>T (p.Arg2157Cys)
|
rs369153948
|
0.00005
|
NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val)
|
rs753102887
|
0.00005
|
NM_001367624.2(ZNF469):c.4947G>A (p.Ala1649=)
|
rs770986542
|
0.00005
|
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg)
|
rs1163683032
|
0.00005
|
NM_004370.6(COL12A1):c.384C>T (p.Thr128=)
|
rs200378966
|
0.00005
|
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)
|
rs373455368
|
0.00005
|
NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val)
|
rs370614125
|
0.00005
|
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp)
|
rs372225444
|
0.00005
|
NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg)
|
rs367643097
|
0.00004
|
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)
|
rs146035171
|
0.00004
|
NM_000089.4(COL1A2):c.286A>G (p.Met96Val)
|
rs763509640
|
0.00004
|
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)
|
rs770168441
|
0.00004
|
NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu)
|
rs534898281
|
0.00004
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
0.00004
|
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln)
|
rs778497667
|
0.00004
|
NM_000093.5(COL5A1):c.12T>C (p.His4=)
|
rs368818087
|
0.00004
|
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=)
|
rs201335857
|
0.00004
|
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)
|
rs148687561
|
0.00004
|
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)
|
rs369263247
|
0.00004
|
NM_000302.4(PLOD1):c.805G>A (p.Val269Met)
|
rs145447578
|
0.00004
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala)
|
rs760014906
|
0.00004
|
NM_001367624.2(ZNF469):c.793G>A (p.Gly265Ser)
|
rs754776767
|
0.00004
|
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=)
|
rs371016672
|
0.00004
|
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)
|
rs201973949
|
0.00004
|
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)
|
rs771186535
|
0.00004
|
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=)
|
rs553575841
|
0.00004
|
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val)
|
rs1057524401
|
0.00004
|
NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser)
|
rs759565407
|
0.00003
|
NM_000090.4(COL3A1):c.853-7T>C
|
rs377063305
|
0.00003
|
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala)
|
rs535363331
|
0.00003
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His)
|
rs757434449
|
0.00003
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
|
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn)
|
rs774590964
|
0.00003
|
NM_000393.5(COL5A2):c.1005+3A>G
|
rs375809563
|
0.00003
|
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)
|
rs267599127
|
0.00003
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr)
|
rs886052393
|
0.00003
|
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser)
|
rs745468033
|
0.00003
|
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys)
|
rs768127770
|
0.00003
|
NM_014244.5(ADAMTS2):c.2721G>A (p.Ala907=)
|
rs373304304
|
0.00003
|
NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser)
|
rs146217716
|
0.00003
|
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)
|
rs72656307
|
0.00002
|
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)
|
rs753455668
|
0.00002
|
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu)
|
rs1466862530
|
0.00002
|
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile)
|
rs769039976
|
0.00002
|
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
NM_000090.4(COL3A1):c.2110G>A (p.Glu704Lys)
|
rs863223362
|
0.00002
|
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)
|
rs369494336
|
0.00002
|
NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr)
|
rs932369090
|
0.00002
|
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln)
|
rs753589858
|
0.00002
|
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)
|
rs962170388
|
0.00002
|
NM_000093.5(COL5A1):c.2646+18T>A
|
rs754790166
|
0.00002
|
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys)
|
rs146348246
|
0.00002
|
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)
|
rs746104317
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)
|
rs377049803
|
0.00002
|
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)
|
rs1489530369
|
0.00002
|
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val)
|
rs1443563081
|
0.00002
|
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
|
rs782454177
|
0.00002
|
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=)
|
rs782313331
|
0.00002
|
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)
|
rs782400832
|
0.00002
|
NM_001128225.3(SLC39A13):c.302-7C>G
|
rs746687344
|
0.00002
|
NM_001365276.2(TNXB):c.6293dup (p.Glu2100fs)
|
rs764867655
|
0.00002
|
NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly)
|
rs749055881
|
0.00002
|
NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His)
|
rs773612193
|
0.00002
|
NM_001365276.2(TNXB):c.9458C>G (p.Pro3153Arg)
|
rs763407660
|
0.00002
|
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu)
|
rs764764326
|
0.00002
|
NM_001367624.2(ZNF469):c.1475G>A (p.Arg492Gln)
|
rs919081661
|
0.00002
|
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu)
|
rs1208219883
|
0.00002
|
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val)
|
rs373292353
|
0.00002
|
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)
|
rs752812483
|
0.00002
|
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)
|
rs191757914
|
0.00002
|
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)
|
rs1244436929
|
0.00002
|
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)
|
rs758186176
|
0.00002
|
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg)
|
rs199693016
|
0.00002
|
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)
|
rs72651642
|
0.00001
|
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val)
|
rs990375606
|
0.00001
|
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)
|
rs779846520
|
0.00001
|
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)
|
rs72653170
|
0.00001
|
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)
|
rs538844573
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000090.4(COL3A1):c.1207A>G (p.Ile403Val)
|
rs1372036761
|
0.00001
|
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)
|
rs794728035
|
0.00001
|
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser)
|
rs1688260053
|
0.00001
|
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro)
|
rs374532173
|
0.00001
|
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr)
|
rs1001748912
|
0.00001
|
NM_000090.4(COL3A1):c.1594G>A (p.Gly532Ser)
|
rs138166497
|
0.00001
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
0.00001
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
NM_000090.4(COL3A1):c.1904C>T (p.Pro635Leu)
|
rs902780774
|
0.00001
|
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)
|
rs794728048
|
0.00001
|
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys)
|
rs189846410
|
0.00001
|
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)
|
rs376603102
|
0.00001
|
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn)
|
rs112714742
|
0.00001
|
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr)
|
rs761469859
|
0.00001
|
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)
|
rs1455100373
|
0.00001
|
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn)
|
rs929526823
|
0.00001
|
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser)
|
rs1431359737
|
0.00001
|
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser)
|
rs376738516
|
0.00001
|
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser)
|
rs1464447467
|
0.00001
|
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu)
|
rs752598062
|
0.00001
|
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln)
|
rs772919524
|
0.00001
|
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser)
|
rs752777683
|
0.00001
|
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu)
|
rs772428340
|
0.00001
|
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn)
|
rs1131691353
|
0.00001
|
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr)
|
rs772713162
|
0.00001
|
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)
|
rs751337133
|
0.00001
|
NM_000093.5(COL5A1):c.1401C>T (p.Ile467=)
|
rs1452745305
|
0.00001
|
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser)
|
rs142612655
|
0.00001
|
NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln)
|
rs574551567
|
0.00001
|
NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser)
|
rs1205167823
|
0.00001
|
NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=)
|
rs770392149
|
0.00001
|
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His)
|
rs201582108
|
0.00001
|
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)
|
rs377138881
|
0.00001
|
NM_000093.5(COL5A1):c.786+11T>G
|
rs766319028
|
0.00001
|
NM_000093.5(COL5A1):c.977G>A (p.Gly326Glu)
|
rs748152732
|
0.00001
|
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser)
|
rs754748178
|
0.00001
|
NM_000302.4(PLOD1):c.1471-17G>A
|
rs373324035
|
0.00001
|
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)
|
rs1439043436
|
0.00001
|
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His)
|
rs772498138
|
0.00001
|
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp)
|
rs772221158
|
0.00001
|
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)
|
rs374597380
|
0.00001
|
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)
|
rs1443765130
|
0.00001
|
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)
|
rs199621926
|
0.00001
|
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg)
|
rs773321546
|
0.00001
|
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)
|
rs754170105
|
0.00001
|
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
|
rs782066542
|
0.00001
|
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
|
rs1603362434
|
0.00001
|
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)
|
rs1297013254
|
0.00001
|
NM_001110556.2(FLNA):c.2316C>A (p.Val772=)
|
rs2067723075
|
0.00001
|
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)
|
rs374130804
|
0.00001
|
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
|
rs1557178198
|
0.00001
|
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
|
rs3819330
|
0.00001
|
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)
|
rs371677498
|
0.00001
|
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)
|
rs782447567
|
0.00001
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile)
|
rs751045102
|
0.00001
|
NM_001365276.2(TNXB):c.3826T>C (p.Ser1276Pro)
|
rs879263799
|
0.00001
|
NM_001365276.2(TNXB):c.4957C>T (p.Arg1653Ter)
|
rs201184519
|
0.00001
|
NM_001365276.2(TNXB):c.7783G>A (p.Glu2595Lys)
|
rs374803743
|
0.00001
|
NM_001365276.2(TNXB):c.7826-1G>C
|
rs200357005
|
0.00001
|
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile)
|
rs1187845779
|
0.00001
|
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met)
|
rs273585626
|
0.00001
|
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp)
|
rs1292941352
|
0.00001
|
NM_001734.5(C1S):c.1139C>T (p.Ser380Phe)
|
rs782329906
|
0.00001
|
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)
|
rs201343487
|
0.00001
|
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn)
|
rs370544100
|
0.00001
|
NM_004370.6(COL12A1):c.363G>A (p.Val121=)
|
rs559388395
|
0.00001
|
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val)
|
rs759722280
|
0.00001
|
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser)
|
rs750010185
|
0.00001
|
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg)
|
rs377226722
|
0.00001
|
NM_004370.6(COL12A1):c.74-19T>C
|
rs564822630
|
0.00001
|
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)
|
rs994920789
|
0.00001
|
NM_007255.3(B4GALT7):c.620C>T (p.Ser207Phe)
|
rs774917613
|
0.00001
|
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr)
|
rs753594601
|
0.00001
|
NM_014244.5(ADAMTS2):c.1068C>T (p.His356=)
|
rs372834434
|
0.00001
|
NM_014244.5(ADAMTS2):c.1492C>T (p.Leu498=)
|
rs1182897591
|
0.00001
|
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln)
|
rs772028555
|
0.00001
|
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter)
|
rs367553801
|
0.00001
|
NM_014244.5(ADAMTS2):c.688+1G>A
|
rs1182409555
|
0.00001
|
NM_000088.4(COL1A1):c.1056+12dup
|
rs766175536
|
|
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)
|
rs2144576822
|
|
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)
|
rs72648326
|
|
NM_000088.4(COL1A1):c.1299+1G>A
|
rs66490707
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)
|
rs751299130
|
|
NM_000088.4(COL1A1):c.1444G>A (p.Gly482Arg)
|
rs72648344
|
|
NM_000088.4(COL1A1):c.1563A>T (p.Gly521=)
|
|
|
NM_000088.4(COL1A1):c.1646del (p.Pro549fs)
|
rs1907351704
|
|
NM_000088.4(COL1A1):c.1667del (p.Pro556fs)
|
rs1351742344
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)
|
rs193922144
|
|
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)
|
rs72651645
|
|
NM_000088.4(COL1A1):c.2343+1G>A
|
rs1114167378
|
|
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)
|
rs67879854
|
|
NM_000088.4(COL1A1):c.2597del (p.Gly866fs)
|
|
|
NM_000088.4(COL1A1):c.288del (p.Asp97fs)
|
rs2144593759
|
|
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)
|
rs72653173
|
|
NM_000088.4(COL1A1):c.3331C>T (p.Arg1111Cys)
|
rs2144542395
|
|
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)
|
rs1555571916
|
|
NM_000088.4(COL1A1):c.3893C>A (p.Thr1298Asn)
|
rs1555571755
|
|
NM_000088.4(COL1A1):c.598G>A (p.Gly200Ser)
|
|
|
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)
|
rs72645321
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)
|
rs1555574303
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)
|
rs66619856
|
|
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)
|
rs67543427
|
|
NM_000089.4(COL1A2):c.1136G>A (p.Gly379Glu)
|
rs121912912
|
|
NM_000089.4(COL1A2):c.1523G>T (p.Gly508Val)
|
|
|
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)
|
rs72658150
|
|
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)
|
rs779303344
|
|
NM_000089.4(COL1A2):c.2990G>T (p.Gly997Val)
|
|
|
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)
|
rs72659319
|
|
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)
|
rs72656360
|
|
NM_000089.4(COL1A2):c.433-2A>C
|
rs1554395471
|
|
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)
|
rs72656394
|
|
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)
|
rs66612022
|
|
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala)
|
rs1688218490
|
|
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)
|
rs587779696
|
|
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)
|
rs1576465155
|
|
NM_000090.4(COL3A1):c.1676A>T (p.Glu559Val)
|
|
|
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter)
|
rs587779527
|
|
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu)
|
rs1039226542
|
|
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys)
|
rs769039976
|
|
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu)
|
rs587779620
|
|
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu)
|
rs2153501357
|
|
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr)
|
rs1064796979
|
|
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val)
|
rs199851835
|
|
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser)
|
rs587779695
|
|
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val)
|
rs1336654706
|
|
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys)
|
rs2153503430
|
|
NM_000090.4(COL3A1):c.2771G>T (p.Gly924Val)
|
rs587779450
|
|
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu)
|
rs753621331
|
|
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr)
|
rs1688533171
|
|
NM_000090.4(COL3A1):c.290G>A (p.Arg97His)
|
rs1197947308
|
|
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala)
|
rs886038939
|
|
NM_000090.4(COL3A1):c.2963T>A (p.Leu988His)
|
rs770525372
|
|
NM_000090.4(COL3A1):c.3122G>C (p.Gly1041Ala)
|
|
|
NM_000090.4(COL3A1):c.3204CCCTGCTGG[1] (p.1069PAG[1])
|
rs771791598
|
|
NM_000090.4(COL3A1):c.3260C>T (p.Pro1087Leu)
|
rs576166457
|
|
NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser)
|
rs1688630479
|
|
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu)
|
rs368119434
|
|
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser)
|
rs1194692141
|
|
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly)
|
rs1688703417
|
|
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)
|
rs794728057
|
|
NM_000090.4(COL3A1):c.644C>G (p.Pro215Arg)
|
|
|
NM_000090.4(COL3A1):c.784A>G (p.Met262Val)
|
rs1688161240
|
|
NM_000090.4(COL3A1):c.842C>A (p.Pro281His)
|
rs794728039
|
|
NM_000090.4(COL3A1):c.86_88del (p.Glu29del)
|
rs1559052566
|
|
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)
|
rs587779650
|
|
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
|
rs1833258579
|
|
NM_000093.5(COL5A1):c.2800-18C>T
|
rs73664144
|
|
NM_000093.5(COL5A1):c.3550C>A (p.Pro1184Thr)
|
|
|
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys)
|
rs863223479
|
|
NM_000093.5(COL5A1):c.4238C>A (p.Ala1413Asp)
|
rs1564480902
|
|
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)
|
rs149212775
|
|
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)
|
rs863223475
|
|
NM_000093.5(COL5A1):c.934C>T (p.Pro312Ser)
|
|
|
NM_000093.5(COL5A1):c.935C>T (p.Pro312Leu)
|
rs367726185
|
|
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs)
|
rs747037908
|
|
NM_000302.4(PLOD1):c.1037del (p.Ser346fs)
|
|
|
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp)
|
rs763065699
|
|
NM_000302.4(PLOD1):c.1261dup (p.Ala421fs)
|
|
|
NM_000302.4(PLOD1):c.1262del (p.Ala421fs)
|
|
|
NM_000302.4(PLOD1):c.1465C>T (p.Gln489Ter)
|
|
|
NM_000302.4(PLOD1):c.1581del (p.Glu528fs)
|
|
|
NM_000302.4(PLOD1):c.1589G>A (p.Trp530Ter)
|
|
|
NM_000302.4(PLOD1):c.1741_1742del (p.Leu581fs)
|
|
|
NM_000302.4(PLOD1):c.1780G>T (p.Glu594Ter)
|
|
|
NM_000302.4(PLOD1):c.1903-2A>G
|
rs1553137486
|
|
NM_000302.4(PLOD1):c.1934dup (p.Tyr645Ter)
|
|
|
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del)
|
rs1310692062
|
|
NM_000302.4(PLOD1):c.302+1G>T
|
|
|
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs)
|
rs745409628
|
|
NM_000302.4(PLOD1):c.415G>T (p.Glu139Ter)
|
|
|
NM_000302.4(PLOD1):c.698_699insCCTCTGGCCTA (p.Asp234fs)
|
|
|
NM_000302.4(PLOD1):c.76+1G>T
|
|
|
NM_000302.4(PLOD1):c.82del (p.Leu28fs)
|
|
|
NM_000302.4(PLOD1):c.843+1del
|
|
|
NM_000393.5(COL5A2):c.1481T>C (p.Ile494Thr)
|
|
|
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln)
|
rs730880066
|
|
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)
|
rs1553517323
|
|
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro)
|
rs545574407
|
|
NM_000393.5(COL5A2):c.905G>T (p.Arg302Leu)
|
rs545574407
|
|
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val)
|
rs2148114467
|
|
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)
|
rs1557178134
|
|
NM_001110556.2(FLNA):c.3122A>G (p.Tyr1041Cys)
|
|
|
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)
|
rs372874251
|
|
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe)
|
rs1557177690
|
|
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly)
|
rs2148110326
|
|
NM_001110556.2(FLNA):c.568C>T (p.Arg190Trp)
|
|
|
NM_001110556.2(FLNA):c.674C>T (p.Ala225Val)
|
|
|
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=)
|
rs1026564714
|
|
NM_001129.5(AEBP1):c.1108G>A (p.Gly370Ser)
|
|
|
NM_001129.5(AEBP1):c.205G>A (p.Ala69Thr)
|
|
|
NM_001129.5(AEBP1):c.460_492del (p.121KEKPPKATKKP[3])
|
|
|
NM_001365276.2(TNXB):c.10004dup (p.Asn3335fs)
|
rs779059111
|
|
NM_001365276.2(TNXB):c.10291C>T (p.Arg3431Ter)
|
|
|
NM_001365276.2(TNXB):c.10409C>T (p.Thr3470Met)
|
|
|
NM_001365276.2(TNXB):c.10425del (p.Phe3476fs)
|
|
|
NM_001365276.2(TNXB):c.10623_10624del (p.Pro3542fs)
|
rs755541448
|
|
NM_001365276.2(TNXB):c.10765C>T (p.Gln3589Ter)
|
|
|
NM_001365276.2(TNXB):c.10997_10998del (p.Val3666fs)
|
|
|
NM_001365276.2(TNXB):c.11387-2A>G
|
|
|
NM_001365276.2(TNXB):c.11485C>T (p.Arg3829Ter)
|
|
|
NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=)
|
rs6457479
|
|
NM_001365276.2(TNXB):c.12180C>A (p.Cys4060Ter)
|
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|
NM_001365276.2(TNXB):c.12240_12243del (p.Asp4081fs)
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|
NM_001365276.2(TNXB):c.12559C>T (p.Arg4187Ter)
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|
NM_001365276.2(TNXB):c.1846T>C (p.Cys616Arg)
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|
|
NM_001365276.2(TNXB):c.1878del (p.His626fs)
|
rs1554334255
|
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NM_001365276.2(TNXB):c.1990C>T (p.Gln664Ter)
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|
|
NM_001365276.2(TNXB):c.2044G>T (p.Glu682Ter)
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NM_001365276.2(TNXB):c.2306G>A (p.Trp769Ter)
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|
|
NM_001365276.2(TNXB):c.2389C>T (p.Arg797Trp)
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|
|
NM_001365276.2(TNXB):c.2516-17_2516-15del
|
rs199775035
|
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NM_001365276.2(TNXB):c.2543_2546dup (p.Ala850fs)
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|
|
NM_001365276.2(TNXB):c.2662C>G (p.Pro888Ala)
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NM_001365276.2(TNXB):c.2780-2A>G
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NM_001365276.2(TNXB):c.3025_3026delinsG (p.Pro1009fs)
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|
NM_001365276.2(TNXB):c.3149-1G>A
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|
NM_001365276.2(TNXB):c.3288del (p.Gln1095_Tyr1096insTer)
|
rs1779660599
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NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs)
|
rs764070148
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NM_001365276.2(TNXB):c.3303del (p.Gln1102fs)
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|
|
NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg)
|
rs762130701
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NM_001365276.2(TNXB):c.3842G>A (p.Trp1281Ter)
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|
|
NM_001365276.2(TNXB):c.3907C>T (p.Gln1303Ter)
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|
NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs)
|
rs2127254498
|
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NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His)
|
rs61735731
|
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NM_001365276.2(TNXB):c.404-2A>G
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|
|
NM_001365276.2(TNXB):c.4073G>A (p.Ser1358Asn)
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|
NM_001365276.2(TNXB):c.4411del (p.Ser1471fs)
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|
NM_001365276.2(TNXB):c.4706_4707del (p.Thr1569fs)
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|
|
NM_001365276.2(TNXB):c.494C>T (p.Pro165Leu)
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|
NM_001365276.2(TNXB):c.4990+1G>T
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NM_001365276.2(TNXB):c.5252G>A (p.Gly1751Asp)
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NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu)
|
rs181025235
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NM_001365276.2(TNXB):c.580C>T (p.Gln194Ter)
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|
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NM_001365276.2(TNXB):c.5816_5829dup (p.Arg1944fs)
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NM_001365276.2(TNXB):c.5947dup (p.Glu1983fs)
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NM_001365276.2(TNXB):c.612C>A (p.Cys204Ter)
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NM_001365276.2(TNXB):c.6221-2_6221-1delinsCA
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NM_001365276.2(TNXB):c.6298G>T (p.Glu2100Ter)
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|
NM_001365276.2(TNXB):c.6341C>G (p.Ser2114Cys)
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NM_001365276.2(TNXB):c.642_650delinsG (p.Trp215fs)
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|
NM_001365276.2(TNXB):c.6779T>C (p.Met2260Thr)
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|
|
NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val)
|
rs1016095149
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NM_001365276.2(TNXB):c.6841+1G>A
|
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|
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)
|
rs140304758
|
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NM_001365276.2(TNXB):c.701_704dup (p.Arg236fs)
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|
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NM_001365276.2(TNXB):c.703_704dup (p.Arg236fs)
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NM_001365276.2(TNXB):c.7505del (p.Asp2502fs)
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|
NM_001365276.2(TNXB):c.7825+1G>T
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NM_001365276.2(TNXB):c.7878dup (p.Ile2627fs)
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NM_001365276.2(TNXB):c.7923del (p.Asp2642fs)
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NM_001365276.2(TNXB):c.8252C>T (p.Ser2751Leu)
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|
|
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg)
|
rs61745355
|
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NM_001365276.2(TNXB):c.8571del (p.Asp2858fs)
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|
|
NM_001365276.2(TNXB):c.8613del (p.Phe2871fs)
|
rs1777434181
|
|
NM_001365276.2(TNXB):c.8959A>T (p.Lys2987Ter)
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|
|
NM_001365276.2(TNXB):c.8971G>A (p.Gly2991Arg)
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|
NM_001365276.2(TNXB):c.8998_8999del (p.Gly3000fs)
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|
|
NM_001365276.2(TNXB):c.9115+1G>A
|
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|
NM_001365276.2(TNXB):c.9115+2T>C
|
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|
NM_001365276.2(TNXB):c.9116-1G>A
|
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|
NM_001365276.2(TNXB):c.9791del (p.Arg3264fs)
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NM_001367624.2(ZNF469):c.10324_10325del (p.Arg3442fs)
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|
|
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)
|
rs199528724
|
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NM_001367624.2(ZNF469):c.10332dup (p.Arg3445fs)
|
rs764470052
|
|
NM_001367624.2(ZNF469):c.1043A>G (p.His348Arg)
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|
|
NM_001367624.2(ZNF469):c.11690dup (p.Arg3899fs)
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|
NM_001367624.2(ZNF469):c.1171_1175del (p.Leu391fs)
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|
|
NM_001367624.2(ZNF469):c.1871A>G (p.Gln624Arg)
|
|
|
NM_001367624.2(ZNF469):c.2129dup (p.Pro711fs)
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|
|
NM_001367624.2(ZNF469):c.2639G>C (p.Ser880Thr)
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NM_001367624.2(ZNF469):c.2889_2949dup (p.Asp984fs)
|
|
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NM_001367624.2(ZNF469):c.2995_3013dup (p.Arg1005fs)
|
|
|
NM_001367624.2(ZNF469):c.3276C>G (p.Tyr1092Ter)
|
|
|
NM_001367624.2(ZNF469):c.3714C>T (p.Ser1238=)
|
rs572061351
|
|
NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr)
|
rs273585620
|
|
NM_001367624.2(ZNF469):c.4915G>A (p.Gly1639Ser)
|
|
|
NM_001367624.2(ZNF469):c.5491G>A (p.Ala1831Thr)
|
|
|
NM_001367624.2(ZNF469):c.5906C>T (p.Ala1969Val)
|
|
|
NM_001367624.2(ZNF469):c.7267C>T (p.Pro2423Ser)
|
|
|
NM_001367624.2(ZNF469):c.7635C>T (p.Asp2545=)
|
rs781553869
|
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NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3])
|
rs1905840452
|
|
NM_001367624.2(ZNF469):c.8212G>T (p.Ala2738Ser)
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|
|
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter)
|
rs1172315984
|
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NM_001367624.2(ZNF469):c.8515C>G (p.Pro2839Ala)
|
|
|
NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg)
|
rs386794006
|
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NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter)
|
rs764139968
|
|
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His)
|
rs536601676
|
|
NM_001367624.2(ZNF469):c.9599G>A (p.Arg3200His)
|
|
|
NM_001734.5(C1S):c.1309_1310del (p.Arg437fs)
|
|
|
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile)
|
rs200315815
|
|
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser)
|
rs575168916
|
|
NM_004370.6(COL12A1):c.335-1G>C
|
rs779800232
|
|
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu)
|
rs375043994
|
|
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
|
rs1767310072
|
|
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr)
|
rs1767128506
|
|
NM_004370.6(COL12A1):c.5339T>C (p.Val1780Ala)
|
|
|
NM_004370.6(COL12A1):c.8324C>T (p.Pro2775Leu)
|
|
|
NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)
|
|
|
NM_007255.3(B4GALT7):c.313T>G (p.Phe105Val)
|
rs1131691521
|
|
NM_013352.4(DSE):c.2097G>A (p.Trp699Ter)
|
|
|
NM_013352.4(DSE):c.2364G>C (p.Glu788Asp)
|
|
|
NM_013352.4(DSE):c.2699A>G (p.Tyr900Cys)
|
|
|
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs)
|
rs1757906798
|
|
NM_014244.5(ADAMTS2):c.102_129del (p.Ala35fs)
|
|
|
NM_014244.5(ADAMTS2):c.103_130del (p.Ala35fs)
|
|
|
NM_014244.5(ADAMTS2):c.139+2T>A
|
|
|
NM_014244.5(ADAMTS2):c.1656G>A (p.Trp552Ter)
|
|
|
NM_014244.5(ADAMTS2):c.1977C>A (p.Cys659Ter)
|
|
|
NM_014244.5(ADAMTS2):c.2065dup (p.Cys689fs)
|
|
|
NM_014244.5(ADAMTS2):c.2398G>T (p.Glu800Ter)
|
|
|
NM_014244.5(ADAMTS2):c.2457+16G>T
|
|
|
NM_014244.5(ADAMTS2):c.2503_2510del (p.Tyr834_Met835insTer)
|
|
|
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu)
|
rs200309353
|
|
NM_014244.5(ADAMTS2):c.2900G>A (p.Arg967His)
|
rs775213299
|
|
NM_014244.5(ADAMTS2):c.2958+1G>A
|
|
|
NM_014244.5(ADAMTS2):c.2T>G (p.Met1Arg)
|
|
|
NM_014244.5(ADAMTS2):c.3062G>A (p.Arg1021Lys)
|
rs2113181448
|
|
NM_014244.5(ADAMTS2):c.3088+1G>A
|
|
|
NM_014244.5(ADAMTS2):c.3139del (p.Arg1047fs)
|
|
|
NM_014244.5(ADAMTS2):c.3593T>G (p.Leu1198Arg)
|
|
|
NM_014244.5(ADAMTS2):c.689G>T (p.Gly230Val)
|
|
|
NM_014244.5(ADAMTS2):c.78_101dup (p.Leu27_Pro34dup)
|
rs1757908540
|
|
NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1])
|
rs1041304220
|
|
NM_014244.5(ADAMTS2):c.923del (p.Gly308fs)
|
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018699.4(PRDM5):c.1030G>T (p.Glu344Ter)
|
|
|
NM_018699.4(PRDM5):c.1131dup (p.Cys378fs)
|
|
|
NM_018699.4(PRDM5):c.1258C>T (p.Gln420Ter)
|
|
|
NM_018699.4(PRDM5):c.1282+1G>T
|
|
|
NM_018699.4(PRDM5):c.307G>T (p.Glu103Ter)
|
|
|
NM_018699.4(PRDM5):c.337A>G (p.Ile113Val)
|
|
|
NM_018699.4(PRDM5):c.644A>G (p.Gln215Arg)
|
|
|
NM_018699.4(PRDM5):c.694C>T (p.Arg232Ter)
|
|
|
NM_018699.4(PRDM5):c.69_70dup (p.Tyr24fs)
|
|
|
NM_018699.4(PRDM5):c.865+1G>A
|
|
|
NM_018699.4(PRDM5):c.911_912del (p.Cys304fs)
|
|
|
NM_018699.4(PRDM5):c.93+7G>A
|
|
|
NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala)
|
rs1249919137
|
|
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs)
|
rs1329926209
|
|