ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 653
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HGVS dbSNP gnomAD frequency
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)
NM_001365276.2(TNXB):c.12240_12243del (p.Asp4081fs)
NM_001365276.2(TNXB):c.12559C>T (p.Arg4187Ter)
NM_001365276.2(TNXB):c.1846T>C (p.Cys616Arg)
NM_001365276.2(TNXB):c.1878del (p.His626fs) rs1554334255
NM_001365276.2(TNXB):c.1990C>T (p.Gln664Ter)
NM_001365276.2(TNXB):c.2044G>T (p.Glu682Ter)
NM_001365276.2(TNXB):c.2306G>A (p.Trp769Ter)
NM_001365276.2(TNXB):c.2389C>T (p.Arg797Trp)
NM_001365276.2(TNXB):c.2516-17_2516-15del rs199775035
NM_001365276.2(TNXB):c.2543_2546dup (p.Ala850fs)
NM_001365276.2(TNXB):c.2662C>G (p.Pro888Ala)
NM_001365276.2(TNXB):c.2780-2A>G
NM_001365276.2(TNXB):c.3025_3026delinsG (p.Pro1009fs)
NM_001365276.2(TNXB):c.3149-1G>A
NM_001365276.2(TNXB):c.3288del (p.Gln1095_Tyr1096insTer) rs1779660599
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs) rs764070148
NM_001365276.2(TNXB):c.3303del (p.Gln1102fs)
NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg) rs762130701
NM_001365276.2(TNXB):c.3842G>A (p.Trp1281Ter)
NM_001365276.2(TNXB):c.3907C>T (p.Gln1303Ter)
NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs) rs2127254498
NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His) rs61735731
NM_001365276.2(TNXB):c.404-2A>G
NM_001365276.2(TNXB):c.4073G>A (p.Ser1358Asn)
NM_001365276.2(TNXB):c.4411del (p.Ser1471fs)
NM_001365276.2(TNXB):c.4706_4707del (p.Thr1569fs)
NM_001365276.2(TNXB):c.494C>T (p.Pro165Leu)
NM_001365276.2(TNXB):c.4990+1G>T
NM_001365276.2(TNXB):c.5252G>A (p.Gly1751Asp)
NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu) rs181025235
NM_001365276.2(TNXB):c.580C>T (p.Gln194Ter)
NM_001365276.2(TNXB):c.5816_5829dup (p.Arg1944fs)
NM_001365276.2(TNXB):c.5947dup (p.Glu1983fs)
NM_001365276.2(TNXB):c.612C>A (p.Cys204Ter)
NM_001365276.2(TNXB):c.6221-2_6221-1delinsCA
NM_001365276.2(TNXB):c.6298G>T (p.Glu2100Ter)
NM_001365276.2(TNXB):c.6341C>G (p.Ser2114Cys)
NM_001365276.2(TNXB):c.642_650delinsG (p.Trp215fs)
NM_001365276.2(TNXB):c.6779T>C (p.Met2260Thr)
NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val) rs1016095149
NM_001365276.2(TNXB):c.6841+1G>A
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile) rs140304758
NM_001365276.2(TNXB):c.701_704dup (p.Arg236fs)
NM_001365276.2(TNXB):c.703_704dup (p.Arg236fs)
NM_001365276.2(TNXB):c.7505del (p.Asp2502fs)
NM_001365276.2(TNXB):c.7825+1G>T
NM_001365276.2(TNXB):c.7878dup (p.Ile2627fs)
NM_001365276.2(TNXB):c.7923del (p.Asp2642fs)
NM_001365276.2(TNXB):c.8252C>T (p.Ser2751Leu)
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg) rs61745355
NM_001365276.2(TNXB):c.8571del (p.Asp2858fs)
NM_001365276.2(TNXB):c.8613del (p.Phe2871fs) rs1777434181
NM_001365276.2(TNXB):c.8959A>T (p.Lys2987Ter)
NM_001365276.2(TNXB):c.8971G>A (p.Gly2991Arg)
NM_001365276.2(TNXB):c.8998_8999del (p.Gly3000fs)
NM_001365276.2(TNXB):c.9115+1G>A
NM_001365276.2(TNXB):c.9115+2T>C
NM_001365276.2(TNXB):c.9116-1G>A
NM_001365276.2(TNXB):c.9791del (p.Arg3264fs)
NM_001367624.2(ZNF469):c.10324_10325del (p.Arg3442fs)
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.10332dup (p.Arg3445fs) rs764470052
NM_001367624.2(ZNF469):c.1043A>G (p.His348Arg)
NM_001367624.2(ZNF469):c.11690dup (p.Arg3899fs)
NM_001367624.2(ZNF469):c.1171_1175del (p.Leu391fs)
NM_001367624.2(ZNF469):c.1871A>G (p.Gln624Arg)
NM_001367624.2(ZNF469):c.2129dup (p.Pro711fs)
NM_001367624.2(ZNF469):c.2639G>C (p.Ser880Thr)
NM_001367624.2(ZNF469):c.2889_2949dup (p.Asp984fs)
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
NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3]) rs1905840452
NM_001367624.2(ZNF469):c.8212G>T (p.Ala2738Ser)
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter) rs1172315984
NM_001367624.2(ZNF469):c.8515C>G (p.Pro2839Ala)
NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg) rs386794006
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

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