ClinVar Miner

List of variants in gene COL12A1 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 936
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.9010+100G>T rs672648 0.91189
NM_004370.6(COL12A1):c.8752+246C>T rs516533 0.89087
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87913
NM_004370.6(COL12A1):c.190+92T>A rs240433 0.87647
NM_004370.6(COL12A1):c.5524+189G>T rs240730 0.87608
NM_004370.6(COL12A1):c.5664+214C>T rs240727 0.87543
NM_004370.6(COL12A1):c.394+125G>A rs743003 0.85098
NM_004370.6(COL12A1):c.191-311A>G rs7768671 0.85085
NM_004370.6(COL12A1):c.2438-279T>C rs3777507 0.82991
NM_004370.6(COL12A1):c.6068-171C>T rs1412709 0.80527
NM_004370.6(COL12A1):c.8416-112C>T rs556674 0.77405
NM_004370.6(COL12A1):c.6608-161A>G rs51630 0.75112
NM_004370.6(COL12A1):c.7086+171C>A rs620129 0.74903
NM_004370.6(COL12A1):c.6461-316T>C rs6453815 0.72754
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_004370.6(COL12A1):c.5525-132A>G rs1332778 0.71264
NM_004370.6(COL12A1):c.7086+301G>C rs620619 0.69197
NM_004370.6(COL12A1):c.7086+44C>G rs499018 0.64589
NM_004370.6(COL12A1):c.6211-241T>A rs9443157 0.59221
NM_004370.6(COL12A1):c.5395-29G>A rs1332020 0.42606
NM_004370.6(COL12A1):c.5098-80G>A rs240737 0.37065
NM_004370.6(COL12A1):c.4287+167G>A rs184766 0.36139
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.29412
NM_004370.6(COL12A1):c.7519+70A>G rs17186509 0.18505
NM_004370.6(COL12A1):c.5525-306T>G rs240729 0.15717
NM_004370.6(COL12A1):c.2437+108G>A rs12198145 0.13297
NM_004370.6(COL12A1):c.2165-32G>T rs3777509 0.13296
NM_004370.6(COL12A1):c.2164+219G>A rs16886240 0.13281
NM_004370.6(COL12A1):c.7697+319T>C rs2300795 0.11365
NM_004370.6(COL12A1):c.8265+19A>T rs9447445 0.11270
NM_004370.6(COL12A1):c.7520-262T>A rs9443156 0.11129
NM_004370.6(COL12A1):c.8649+41C>T rs10943236 0.11125
NM_004370.6(COL12A1):c.1892-8_1892-6del rs199713791 0.10881
NM_004370.6(COL12A1):c.4000+96T>A rs240726 0.08990
NM_004370.6(COL12A1):c.8178+295G>A rs7758152 0.08973
NM_004370.6(COL12A1):c.7086+35G>A rs619607 0.07913
NM_004370.6(COL12A1):c.4827+191G>A rs11753997 0.07175
NM_004370.6(COL12A1):c.4561-80A>G rs75280438 0.05844
NM_004370.6(COL12A1):c.4560+282G>A rs58226666 0.05736
NM_004370.6(COL12A1):c.74-181C>G rs41269313 0.05562
NM_004370.6(COL12A1):c.3565+329C>T rs77827114 0.05420
NM_004370.6(COL12A1):c.4000+153C>T rs73749975 0.05398
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072 0.05341
NM_004370.6(COL12A1):c.8416-89G>A rs61544138 0.05209
NM_004370.6(COL12A1):c.7519+274G>A rs6909123 0.04475
NM_004370.6(COL12A1):c.3443+48C>A rs171287 0.04314
NM_004370.6(COL12A1):c.6211-158A>G rs76961213 0.04240
NM_004370.6(COL12A1):c.6211-238C>T rs75409775 0.04211
NM_004370.6(COL12A1):c.8266-209A>C rs78887854 0.04204
NM_004370.6(COL12A1):c.7950+94A>G rs9447446 0.04203
NM_004370.6(COL12A1):c.9010+233G>A rs9447441 0.04137
NM_004370.6(COL12A1):c.73+25C>T rs240362 0.04065
NM_004370.6(COL12A1):c.9182-201C>A rs9443152 0.04050
NM_004370.6(COL12A1):c.4148-173C>T rs76140980 0.03927
NM_004370.6(COL12A1):c.8649+246G>A rs473777 0.03823
NM_004370.6(COL12A1):c.8178+260A>C rs75161929 0.03738
NM_004370.6(COL12A1):c.7951-234A>T rs79617818 0.03722
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808 0.03556
NM_004370.6(COL12A1):c.*210T>G rs80299357 0.03278
NM_004370.6(COL12A1):c.4561-263T>C rs113581411 0.02744
NM_004370.6(COL12A1):c.6210+103G>C rs78654791 0.02727
NM_004370.6(COL12A1):c.4001-10G>A rs73749974 0.02617
NM_004370.6(COL12A1):c.6211-29A>C rs78744454 0.02587
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=) rs35429515 0.02487
NM_004370.6(COL12A1):c.3565+35A>G rs73749977 0.02458
NM_004370.6(COL12A1):c.3715+33A>T rs7769438 0.02458
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959 0.02433
NM_004370.6(COL12A1):c.5794+35A>G rs2295252 0.02388
NM_004370.6(COL12A1):c.3444-112T>G rs240742 0.02292
NM_004370.6(COL12A1):c.3444-23A>C rs3756789 0.02031
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His) rs79830915 0.02025
NM_004370.6(COL12A1):c.7950+232A>G rs78120174 0.01982
NM_004370.6(COL12A1):c.9011-86T>C rs2273264 0.01937
NM_004370.6(COL12A1):c.8523+25A>G rs3734191 0.01908
NM_004370.6(COL12A1):c.8524-220T>A rs9443155 0.01904
NM_004370.6(COL12A1):c.5525-266G>C rs240728 0.01897
NM_004370.6(COL12A1):c.1891+233G>A rs78489736 0.01753
NM_004370.6(COL12A1):c.1892-303G>A rs73747440 0.01715
NM_004370.6(COL12A1):c.8578-222T>C rs9360880 0.01637
NM_004370.6(COL12A1):c.8941+184T>C rs74728897 0.01626
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro) rs34846477 0.01603
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=) rs36002196 0.01590
NM_004370.6(COL12A1):c.834T>G (p.Ala278=) rs16886258 0.01455
NM_004370.6(COL12A1):c.1892-132C>T rs114530162 0.01431
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=) rs34767467 0.01428
NM_004370.6(COL12A1):c.1891+90C>T rs115114561 0.01428
NM_004370.6(COL12A1):c.1892-290G>T rs114887484 0.01428
NM_004370.6(COL12A1):c.7697+230A>G rs114295888 0.01428
NM_004370.6(COL12A1):c.1288+33T>G rs147287796 0.01427
NM_004370.6(COL12A1):c.8101-229G>T rs116489011 0.01427
NM_004370.6(COL12A1):c.998-221T>C rs16886243 0.01427
NM_004370.6(COL12A1):c.1891+250G>C rs146574478 0.01426
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=) rs77790445 0.01425
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=) rs116691242 0.01422
NM_004370.6(COL12A1):c.2164+34_2164+35insC rs201467556 0.01422
NM_004370.6(COL12A1):c.1289-89A>T rs546457671 0.01421
NM_004370.6(COL12A1):c.2164+36_2164+37del rs200539436 0.01419
NM_004370.6(COL12A1):c.8101-172G>A rs114449178 0.01409
NM_004370.6(COL12A1):c.2164+212G>A rs150204051 0.01401
NM_004370.6(COL12A1):c.2164+279T>C rs141838393 0.01342
NM_004370.6(COL12A1):c.335-157G>C rs148142826 0.01342
NM_004370.6(COL12A1):c.8649+265C>T rs111902297 0.01247
NM_004370.6(COL12A1):c.7355-83C>A rs41266765 0.01178
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu) rs77094372 0.01163
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=) rs34619869 0.01132
NM_004370.6(COL12A1):c.2165-95T>C rs75145149 0.01089
NM_004370.6(COL12A1):c.8753-60T>G rs75751415 0.01051
NM_004370.6(COL12A1):c.8650-58A>G rs138900160 0.00999
NM_004370.6(COL12A1):c.190+311G>T rs114204065 0.00928
NM_004370.6(COL12A1):c.190+312C>T rs115285483 0.00927
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_004370.6(COL12A1):c.7698-275T>G rs113416092 0.00850
NM_004370.6(COL12A1):c.8578-295T>C rs374249087 0.00839
NM_004370.6(COL12A1):c.4560+218G>A rs113548469 0.00838
NM_004370.6(COL12A1):c.4001-38G>A rs113194449 0.00799
NM_004370.6(COL12A1):c.7520-221T>A rs16886121 0.00791
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231 0.00776
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_004370.6(COL12A1):c.8178+221C>A rs111903876 0.00740
NM_004370.6(COL12A1):c.2438-92G>A rs73747438 0.00736
NM_004370.6(COL12A1):c.6210+13C>T rs139520272 0.00723
NM_004370.6(COL12A1):c.190+168del rs568524064 0.00679
NM_004370.6(COL12A1):c.4828-68A>G rs181691960 0.00663
NM_004370.6(COL12A1):c.1289-57G>A rs115844244 0.00658
NM_004370.6(COL12A1):c.7520-228A>G rs149944485 0.00639
NM_004370.6(COL12A1):c.8523+255A>C rs146714320 0.00595
NM_004370.6(COL12A1):c.3250+101G>A rs75188867 0.00584
NM_004370.6(COL12A1):c.394+261C>T rs2274901 0.00569
NM_004370.6(COL12A1):c.4288-200C>T rs116225302 0.00564
NM_004370.6(COL12A1):c.2711-24A>T rs148718783 0.00555
NM_004370.6(COL12A1):c.6068-80A>G rs144476645 0.00520
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=) rs35170847 0.00506
NM_004370.6(COL12A1):c.4957+50C>A rs2239642 0.00503
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=) rs35292916 0.00501
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=) rs80102965 0.00499
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_004370.6(COL12A1):c.4561-162_4561-161insG rs1403717123 0.00479
NM_004370.6(COL12A1):c.4957+294C>A rs73749968 0.00458
NM_004370.6(COL12A1):c.5395-327del rs374510254 0.00455
NM_004370.6(COL12A1):c.8320-35T>C rs56333731 0.00454
NM_004370.6(COL12A1):c.8179-137A>G rs76348881 0.00436
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422 0.00420
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala) rs77654847 0.00419
NM_004370.6(COL12A1):c.5795-149T>C rs183041877 0.00416
NM_004370.6(COL12A1):c.2984-190C>A rs567828587 0.00406
NM_004370.6(COL12A1):c.5524+263G>A rs181074631 0.00396
NM_004370.6(COL12A1):c.6461-115G>A rs146593043 0.00381
NM_004370.6(COL12A1):c.4561-269G>A rs113447407 0.00378
NM_004370.6(COL12A1):c.6872-226C>T rs148708673 0.00373
NM_004370.6(COL12A1):c.4000+5G>A rs181257320 0.00349
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=) rs140319205 0.00348
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=) rs113549828 0.00347
NM_004370.6(COL12A1):c.4958-228T>C rs116043772 0.00347
NM_004370.6(COL12A1):c.7355-50A>C rs115471729 0.00343
NM_004370.6(COL12A1):c.8752+234G>A rs553097287 0.00336
NM_004370.6(COL12A1):c.5395-46A>G rs147802696 0.00334
NM_004370.6(COL12A1):c.1891+325A>T rs140329165 0.00323
NM_004370.6(COL12A1):c.8320-181C>G rs140055621 0.00318
NM_004370.6(COL12A1):c.8100+192T>A rs115096802 0.00317
NM_004370.6(COL12A1):c.3566-100A>G rs113988474 0.00316
NM_004370.6(COL12A1):c.8753-169T>G rs77891462 0.00314
NM_004370.6(COL12A1):c.6946+27T>G rs186886315 0.00298
NM_004370.6(COL12A1):c.8100+303C>T rs73746803 0.00295
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=) rs186035636 0.00283
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838 0.00278
NM_004370.6(COL12A1):c.6068-14T>A rs189714891 0.00278
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg) rs139332405 0.00262
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn) rs148065232 0.00261
NM_004370.6(COL12A1):c.4691-12G>A rs146472530 0.00243
NM_004370.6(COL12A1):c.7558+48A>G rs141527478 0.00225
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088 0.00224
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=) rs146146364 0.00173
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=) rs190501064 0.00173
NM_004370.6(COL12A1):c.3565+21C>T rs6924261 0.00166
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=) rs201266825 0.00159
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246 0.00147
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239 0.00141
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131 0.00125
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr) rs199673248 0.00118
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
NM_004370.6(COL12A1):c.7355-9A>G rs145346828 0.00103
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=) rs371949188 0.00103
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763 0.00101
NM_004370.6(COL12A1):c.8179-10A>G rs142509363 0.00101
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303 0.00096
NM_004370.6(COL12A1):c.4958-7A>C rs1332779 0.00083
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met) rs148810173 0.00072
NM_004370.6(COL12A1):c.2711-15T>C rs74331327 0.00071
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln) rs34438461 0.00067
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595 0.00067
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly) rs189762594 0.00063
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys) rs200693552 0.00061
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=) rs374962362 0.00051
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu) rs370388701 0.00048
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys) rs147044263 0.00047
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869 0.00045
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_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285 0.00041
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449 0.00040
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_004370.6(COL12A1):c.8639A>G (p.His2880Arg) rs185171880 0.00035
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=) rs202153313 0.00034
NM_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637 0.00034
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr) rs184585202 0.00034
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_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00031
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=) rs190820180 0.00027
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424 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_004370.6(COL12A1):c.8622A>G (p.Pro2874=) rs368321891 0.00026
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=) rs747982811 0.00024
NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg) rs373739940 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_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866 0.00023
NM_004370.6(COL12A1):c.1892-7_1892-6insC rs34433354 0.00022
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_004370.6(COL12A1):c.1644C>A (p.Ile548=) rs147111006 0.00019
NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn) rs185615367 0.00019
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_004370.6(COL12A1):c.7008C>T (p.Asp2336=) rs377413592 0.00017
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
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.695C>T (p.Thr232Met) rs200443479 0.00016
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=) rs181007051 0.00016
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys) rs768052470 0.00015
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala) rs192345009 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_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser) rs200901687 0.00015
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636 0.00014
NM_004370.6(COL12A1):c.8752+22C>T rs529883980 0.00014
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His) rs57396313 0.00014
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys) rs377223474 0.00013
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_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_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys) rs530680231 0.00010
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331 0.00010
NM_004370.6(COL12A1):c.732G>A (p.Val244=) rs200141559 0.00010
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=) rs190984968 0.00010
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu) rs754916465 0.00009
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099 0.00009
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala) rs528319887 0.00009
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys) rs199684959 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_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.5507C>T (p.Thr1836Met) rs200108494 0.00008
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp) rs754228661 0.00008
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met) rs374544349 0.00007
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu) rs376514006 0.00007
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln) rs370549168 0.00007
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815 0.00007
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.2536G>A (p.Val846Ile) rs368113790 0.00006
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro) rs373259425 0.00006
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr) rs41269309 0.00006
NM_004370.6(COL12A1):c.4279C>T (p.Arg1427Cys) rs779038394 0.00006
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=) rs552834799 0.00006
NM_004370.6(COL12A1):c.525G>A (p.Glu175=) rs199736979 0.00006
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His) rs770194625 0.00006
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly) rs757348453 0.00006
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=) rs144223578 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.6541G>A (p.Asp2181Asn) rs368397177 0.00006
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala) rs758182752 0.00006
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp) rs769219928 0.00006
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.1971A>C (p.Glu657Asp) rs758146130 0.00005
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321 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.3899C>T (p.Ala1300Val) rs199757996 0.00005
NM_004370.6(COL12A1):c.4288-5C>T rs544779989 0.00005
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu) rs370090007 0.00005
NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser) rs370379561 0.00004
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861 0.00004
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln) rs757252832 0.00004
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser) rs776633189 0.00004
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His) rs756803766 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.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.3247A>G (p.Thr1083Ala) rs375221786 0.00004
NM_004370.6(COL12A1):c.3279C>G (p.Leu1093=) rs536622585 0.00004
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val) rs368773405 0.00004
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=) rs371282637 0.00004
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn) rs370339027 0.00004
NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=) rs371112796 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.4828G>A (p.Val1610Ile) rs374525546 0.00004
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile) rs772992461 0.00004
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518 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.5336G>A (p.Arg1779His) rs748487098 0.00004
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala) rs760315104 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.6070C>T (p.Pro2024Ser) rs771186535 0.00004
NM_004370.6(COL12A1):c.6608-4G>A rs374995108 0.00004
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser) rs370244195 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.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.8277T>A (p.Gly2759=) rs187901672 0.00004
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=) rs761216954 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.9038C>T (p.Pro3013Leu) rs376161354 0.00004
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser) rs746453262 0.00004
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607 0.00003
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=) rs780442166 0.00003
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=) rs780620827 0.00003
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala) rs775809424 0.00003
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala) rs370684538 0.00003
NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg) rs1357325121 0.00003
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636 0.00003
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys) rs768127770 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.3570G>A (p.Met1190Ile) rs536615203 0.00003
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser) rs774035582 0.00003
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583 0.00003
NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys) rs978290681 0.00003
NM_004370.6(COL12A1):c.4000+4C>G rs375772555 0.00003
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His) rs200125060 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.5381G>A (p.Gly1794Asp) rs548889128 0.00003
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val) rs565471668 0.00003
NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His) rs751986784 0.00003
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu) rs755159927 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_004370.6(COL12A1):c.8686-5A>T rs749754621 0.00003
NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=) rs375094592 0.00003
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.189G>A (p.Thr63=) rs371298920 0.00002
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) rs764241362 0.00002
NM_004370.6(COL12A1):c.2437+13T>C rs545025813 0.00002
NM_004370.6(COL12A1):c.2445G>A (p.Gly815=) rs201021998 0.00002
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu) rs771124556 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.274G>T (p.Val92Leu) rs377482121 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.3296C>A (p.Thr1099Asn) rs768943327 0.00002
NM_004370.6(COL12A1):c.3468T>C (p.Asn1156=) rs774082346 0.00002
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu) rs886380438 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.4255T>A (p.Tyr1419Asn) rs758640189 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.469A>G (p.Lys157Glu) rs373002461 0.00002
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs) rs1471550984 0.00002
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr) rs772069524 0.00002
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys) rs368481619 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.5644G>A (p.Ala1882Thr) rs757943935 0.00002
NM_004370.6(COL12A1):c.5673C>G (p.Ile1891Met) rs750550229 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr) rs993593939 0.00002
NM_004370.6(COL12A1):c.7428T>C (p.Ser2476=) rs777334909 0.00002
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr) rs1228621705 0.00002
NM_004370.6(COL12A1):c.7526C>G (p.Pro2509Arg) rs781184043 0.00002
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016 0.00002
NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser) rs1226171594 0.00002
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe) rs1198783904 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.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln) rs749005420 0.00002
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu) rs747183950 0.00001
NM_004370.6(COL12A1):c.1018T>C (p.Leu340=) rs578252411 0.00001
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg) rs1210901422 0.00001
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro) rs779083996 0.00001
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser) rs370952607 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1318G>A (p.Asp440Asn) rs563331592 0.00001
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His) rs762385473 0.00001
NM_004370.6(COL12A1):c.1457G>A (p.Arg486Gln) rs768545712 0.00001
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val) rs538463802 0.00001
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr) rs775466928 0.00001
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile) rs758637945 0.00001
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100 0.00001
NM_004370.6(COL12A1):c.191-12T>C rs772991479 0.00001
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met) rs749609293 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004370.6(COL12A1):c.2164+18C>A rs183023584 0.00001
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln) rs775023310 0.00001
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694 0.00001
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val) rs769631929 0.00001
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala) rs941358850 0.00001
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met) rs1369556861 0.00001
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val) rs770970810 0.00001
NM_004370.6(COL12A1):c.2513C>T (p.Pro838Leu) rs368537733 0.00001
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu) rs375671490 0.00001
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met) rs780466316 0.00001
NM_004370.6(COL12A1):c.2664G>A (p.Ala888=) rs756052823 0.00001
NM_004370.6(COL12A1):c.2823A>G (p.Ser941=) rs760141819 0.00001
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser) rs944768236 0.00001
NM_004370.6(COL12A1):c.2983+5G>A rs1064794720 0.00001
NM_004370.6(COL12A1):c.2984-3C>T rs1394199507 0.00001
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys) rs774087407 0.00001
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val) rs751589202 0.00001
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055 0.00001
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val) rs770692332 0.00001
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile) rs201542066 0.00001
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu) rs753747530 0.00001
NM_004370.6(COL12A1):c.3550C>A (p.Pro1184Thr) rs1057524309 0.00001
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp) rs746929943 0.00001
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys) rs748277540 0.00001
NM_004370.6(COL12A1):c.3751T>G (p.Trp1251Gly) rs1767529569 0.00001
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=) rs1210652893 0.00001
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val) rs371419803 0.00001
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly) rs1295465247 0.00001
NM_004370.6(COL12A1):c.4053T>C (p.Asp1351=) rs776829103 0.00001
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=) rs761741355 0.00001
NM_004370.6(COL12A1):c.441C>T (p.Gly147=) rs370007721 0.00001
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser) rs750010185 0.00001
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile) rs771220392 0.00001
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn) rs76453279 0.00001
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser) rs1044813586 0.00001
NM_004370.6(COL12A1):c.4672A>G (p.Thr1558Ala) rs1217151970 0.00001
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu) rs1246397590 0.00001
NM_004370.6(COL12A1):c.4805C>T (p.Thr1602Ile) rs1249355387 0.00001
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu) rs754277446 0.00001
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys) rs778415707 0.00001
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=) rs763294691 0.00001
NM_004370.6(COL12A1):c.5230+1G>A rs1274606112 0.00001
NM_004370.6(COL12A1):c.5376G>C (p.Gly1792=) rs751658468 0.00001
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala) rs1461567926 0.00001
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu) rs757825778 0.00001
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala) rs750426294 0.00001
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile) rs1239883407 0.00001
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly) rs1370422060 0.00001
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val) rs1416074718 0.00001
NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn) rs759905934 0.00001
NM_004370.6(COL12A1):c.5794+2T>A rs1266090046 0.00001
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg) rs755452261 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.5978G>A (p.Arg1993Gln) rs748657616 0.00001
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu) rs752189896 0.00001
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met) rs181357263 0.00001
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro) rs1023244422 0.00001
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu) rs780058273 0.00001
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571 0.00001
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile) rs1385786827 0.00001
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu) rs186836845 0.00001
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu) rs1467078008 0.00001
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys) rs776701367 0.00001
NM_004370.6(COL12A1):c.6744T>C (p.Ile2248=) rs1420789055 0.00001
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu) rs1302398240 0.00001
NM_004370.6(COL12A1):c.6945T>C (p.Asp2315=) rs1206653866 0.00001
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn) rs772161963 0.00001
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser) rs1474542485 0.00001
NM_004370.6(COL12A1):c.7023A>G (p.Lys2341=) rs1188817520 0.00001
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511 0.00001
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala) rs770874037 0.00001
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val) rs761234963 0.00001
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val) rs780133855 0.00001
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu) rs775522044 0.00001
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg) rs770613686 0.00001
NM_004370.6(COL12A1):c.7738A>G (p.Ile2580Val) rs781269301 0.00001
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly) rs1263587165 0.00001
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln) rs200751269 0.00001
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr) rs767580803 0.00001
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys) rs1384761865 0.00001
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile) rs775684324 0.00001
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492 0.00001
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val) rs749287325 0.00001
NM_004370.6(COL12A1):c.8320-12T>G rs1435344195 0.00001
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly) rs368105517 0.00001
NM_004370.6(COL12A1):c.8470-3C>A rs1169467662 0.00001
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg) rs779184954 0.00001
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=) rs202239067 0.00001
NM_004370.6(COL12A1):c.8609C>G (p.Pro2870Arg) rs751638930 0.00001
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val) rs769818518 0.00001
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys) rs778941390 0.00001
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His) rs748714098 0.00001
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile) rs1426761655 0.00001
GRCh37/hg19 6q13(chr6:75184521-75899477)x3
NM_004370.5(COL12A1):c.7356del rs1473576494
NM_004370.6(COL12A1):c.*16G>T rs114679644
NM_004370.6(COL12A1):c.*6T>C rs2149321114
NM_004370.6(COL12A1):c.-35-3C>T
NM_004370.6(COL12A1):c.-35-4G>T
NM_004370.6(COL12A1):c.1037C>T (p.Ser346Phe)
NM_004370.6(COL12A1):c.1093A>C (p.Lys365Gln)
NM_004370.6(COL12A1):c.1111A>G (p.Met371Val) rs2149467349
NM_004370.6(COL12A1):c.1144G>A (p.Val382Met)
NM_004370.6(COL12A1):c.1210G>A (p.Val404Ile)
NM_004370.6(COL12A1):c.1224G>A (p.Lys408=) rs1769468887
NM_004370.6(COL12A1):c.1259A>T (p.Glu420Val)
NM_004370.6(COL12A1):c.127A>T (p.Met43Leu) rs1770138787
NM_004370.6(COL12A1):c.1283A>T (p.Gln428Leu)
NM_004370.6(COL12A1):c.1289-89_1289-88insTT rs200264422
NM_004370.6(COL12A1):c.1289-90del rs36085827
NM_004370.6(COL12A1):c.1289-99_1289-98dup rs36085827
NM_004370.6(COL12A1):c.1315G>A (p.Ala439Thr)
NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)
NM_004370.6(COL12A1):c.1403A>G (p.Lys468Arg) rs2149466373
NM_004370.6(COL12A1):c.1447C>A (p.Gln483Lys)
NM_004370.6(COL12A1):c.1519_1525del (p.Ile507fs) rs1554187341
NM_004370.6(COL12A1):c.1574A>G (p.Tyr525Cys) rs756100330
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)
NM_004370.6(COL12A1):c.1633A>G (p.Met545Val)
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
NM_004370.6(COL12A1):c.163T>G (p.Tyr55Asp) rs1554189322
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met) rs557804521
NM_004370.6(COL12A1):c.1651G>C (p.Gly551Arg)
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser) rs775466928
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
NM_004370.6(COL12A1):c.1704T>A (p.Asp568Glu)
NM_004370.6(COL12A1):c.170T>C (p.Ile57Thr)
NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val)
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met) rs140583215
NM_004370.6(COL12A1):c.1744T>A (p.Ser582Thr)
NM_004370.6(COL12A1):c.1769C>A (p.Pro590His)
NM_004370.6(COL12A1):c.1796T>C (p.Val599Ala) rs2149465509
NM_004370.6(COL12A1):c.1803T>G (p.Asp601Glu)
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
NM_004370.6(COL12A1):c.1840C>T (p.Gln614Ter) rs1562294703
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg) rs779409298
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr) rs952803259
NM_004370.6(COL12A1):c.1891G>C (p.Ala631Pro)
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_004370.6(COL12A1):c.1892-7del rs11347601
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile) rs200315815
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe) rs200315815
NM_004370.6(COL12A1):c.190+3A>G rs2149482645
NM_004370.6(COL12A1):c.190+5G>A rs2149482639
NM_004370.6(COL12A1):c.1900C>A (p.Pro634Thr) rs1769264339
NM_004370.6(COL12A1):c.1954del (p.Trp652fs) rs1769260264
NM_004370.6(COL12A1):c.2012G>C (p.Gly671Ala) rs1057519171
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn) rs2149461916
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val) rs773755693
NM_004370.6(COL12A1):c.2149G>A (p.Glu717Lys)
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr) rs984509796
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu) rs1341300538
NM_004370.6(COL12A1):c.2179C>T (p.Arg727Ter) rs1064796670
NM_004370.6(COL12A1):c.2182A>T (p.Asn728Tyr)
NM_004370.6(COL12A1):c.2186T>A (p.Leu729Gln)
NM_004370.6(COL12A1):c.2224A>T (p.Thr742Ser) rs2149457025
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter) rs1554186583
NM_004370.6(COL12A1):c.2287G>A (p.Gly763Arg)
NM_004370.6(COL12A1):c.2299G>C (p.Glu767Gln)
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
NM_004370.6(COL12A1):c.2340G>C (p.Glu780Asp)
NM_004370.6(COL12A1):c.2347A>G (p.Ile783Val)
NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)
NM_004370.6(COL12A1):c.2354A>G (p.Asp785Gly)
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys)
NM_004370.6(COL12A1):c.2449C>T (p.Pro817Ser)
NM_004370.6(COL12A1):c.2561del (p.Gly854fs) rs1582179372
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu) rs764066205
NM_004370.6(COL12A1):c.2660A>G (p.Tyr887Cys)
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2681C>A (p.Ala894Asp)
NM_004370.6(COL12A1):c.2698A>G (p.Thr900Ala)
NM_004370.6(COL12A1):c.2711-21C>T rs41269311
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr) rs1768261723
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro) rs2149438769
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu) rs1236232001
NM_004370.6(COL12A1):c.2893C>G (p.Leu965Val) rs771868336
NM_004370.6(COL12A1):c.2972C>A (p.Ala991Asp)
NM_004370.6(COL12A1):c.2977A>G (p.Thr993Ala)
NM_004370.6(COL12A1):c.2983T>G (p.Leu995Val)
NM_004370.6(COL12A1):c.2984-285A>T rs240740
NM_004370.6(COL12A1):c.2984-40del rs577647862
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3004C>A (p.Leu1002Met)
NM_004370.6(COL12A1):c.301G>C (p.Glu101Gln)
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
NM_004370.6(COL12A1):c.3052C>T (p.Pro1018Ser)
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile) rs200985706
NM_004370.6(COL12A1):c.311T>C (p.Val104Ala)
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr) rs1767764412
NM_004370.6(COL12A1):c.3130C>T (p.Pro1044Ser)
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln) rs577784031
NM_004370.6(COL12A1):c.3242G>A (p.Gly1081Glu)
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)
NM_004370.6(COL12A1):c.3257G>T (p.Arg1086Leu)
NM_004370.6(COL12A1):c.3258G>A (p.Arg1086=)
NM_004370.6(COL12A1):c.3265T>A (p.Ser1089Thr)
NM_004370.6(COL12A1):c.334+1G>A
NM_004370.6(COL12A1):c.335-1G>C rs779800232
NM_004370.6(COL12A1):c.335-8del rs2149478420
NM_004370.6(COL12A1):c.3371C>T (p.Thr1124Met)
NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=) rs749287034
NM_004370.6(COL12A1):c.3404T>G (p.Val1135Gly) rs2149423016
NM_004370.6(COL12A1):c.341C>A (p.Thr114Lys) rs1473887805
NM_004370.6(COL12A1):c.3443+4G>A
NM_004370.6(COL12A1):c.3444-58del rs371546526
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His) rs764153192
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala) rs770692332
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln) rs1767653671
NM_004370.6(COL12A1):c.3527C>T (p.Thr1176Ile)
NM_004370.6(COL12A1):c.3565+10T>A rs897799506
NM_004370.6(COL12A1):c.3566-275G>A rs588100
NM_004370.6(COL12A1):c.3593C>G (p.Ala1198Gly)
NM_004370.6(COL12A1):c.3598A>G (p.Ile1200Val)
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn) rs1436778165
NM_004370.6(COL12A1):c.3704G>C (p.Arg1235Thr) rs2149417604
NM_004370.6(COL12A1):c.3730A>G (p.Ser1244Gly)
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu) rs199692759
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3779A>C (p.Lys1260Thr)
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
NM_004370.6(COL12A1):c.3829C>G (p.Leu1277Val)
NM_004370.6(COL12A1):c.3833C>T (p.Thr1278Ile)
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly) rs1231394496
NM_004370.6(COL12A1):c.3886A>G (p.Met1296Val)
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)
NM_004370.6(COL12A1):c.394+1G>A
NM_004370.6(COL12A1):c.3961A>G (p.Lys1321Glu)
NM_004370.6(COL12A1):c.4000+1G>A rs2149416563
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn) rs1767469659
NM_004370.6(COL12A1):c.4056T>C (p.Asp1352=) rs1582137772
NM_004370.6(COL12A1):c.4084G>T (p.Glu1362Ter)
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly) rs2149415249
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys) rs1405840866
NM_004370.6(COL12A1):c.4133G>C (p.Ser1378Thr)
NM_004370.6(COL12A1):c.4148-4G>C
NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)
NM_004370.6(COL12A1):c.4195C>T (p.Arg1399Cys)
NM_004370.6(COL12A1):c.4201T>C (p.Phe1401Leu)
NM_004370.6(COL12A1):c.4215G>A (p.Trp1405Ter)
NM_004370.6(COL12A1):c.4225T>C (p.Ser1409Pro)
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) rs1767310072
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
NM_004370.6(COL12A1):c.4287+241dup rs57726755
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln) rs779064060
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
NM_004370.6(COL12A1):c.4387A>G (p.Ser1463Gly)
NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=) rs558383133
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile) rs1246887485
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr) rs760640025
NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn) rs771864984
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
NM_004370.6(COL12A1):c.4537A>G (p.Thr1513Ala)
NM_004370.6(COL12A1):c.4560+103G>A rs77835025
NM_004370.6(COL12A1):c.4561-3C>T
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys) rs574863380
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met) rs1326246352
NM_004370.6(COL12A1):c.4609C>G (p.Pro1537Ala)
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys) rs373216375
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp) rs367865394
NM_004370.6(COL12A1):c.4637A>T (p.Gln1546Leu)
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4703G>A (p.Arg1568Lys)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4771G>A (p.Gly1591Arg)
NM_004370.6(COL12A1):c.4777G>C (p.Val1593Leu)
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
NM_004370.6(COL12A1):c.487A>G (p.Ile163Val)
NM_004370.6(COL12A1):c.4898_4899delinsAT (p.Ser1633Asn)
NM_004370.6(COL12A1):c.490G>A (p.Ala164Thr)
NM_004370.6(COL12A1):c.4910T>C (p.Val1637Ala)
NM_004370.6(COL12A1):c.4929T>C (p.Ser1643=) rs1582121295
NM_004370.6(COL12A1):c.4957+1G>A rs1366112521
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)
NM_004370.6(COL12A1):c.5025G>A (p.Trp1675Ter) rs1554181078
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser) rs550455854
NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)
NM_004370.6(COL12A1):c.5051T>C (p.Leu1684Pro)
NM_004370.6(COL12A1):c.5065T>G (p.Trp1689Gly)
NM_004370.6(COL12A1):c.506C>T (p.Ala169Val)
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
NM_004370.6(COL12A1):c.5233C>A (p.Pro1745Thr)
NM_004370.6(COL12A1):c.5243C>A (p.Thr1748Lys) rs1766723774
NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)
NM_004370.6(COL12A1):c.5275C>G (p.Leu1759Val)
NM_004370.6(COL12A1):c.529A>T (p.Thr177Ser) rs375778726
NM_004370.6(COL12A1):c.5302_5309del (p.Ser1768fs)
NM_004370.6(COL12A1):c.5304C>A (p.Ser1768Arg)
NM_004370.6(COL12A1):c.5321A>G (p.Asp1774Gly) rs1064796779
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met) rs1766678485
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser) rs2149394149
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
NM_004370.6(COL12A1):c.5394+117C>T rs240734
NM_004370.6(COL12A1):c.5395-129G>T rs1332019
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly) rs1419443025
NM_004370.6(COL12A1):c.5498G>A (p.Gly1833Asp)
NM_004370.6(COL12A1):c.5524+1G>A rs1766495554
NM_004370.6(COL12A1):c.5528del (p.Pro1843fs)
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu) rs543663005
NM_004370.6(COL12A1):c.5638C>T (p.Pro1880Ser)
NM_004370.6(COL12A1):c.563C>T (p.Thr188Ile) rs1131691587
NM_004370.6(COL12A1):c.565A>G (p.Arg189Gly)
NM_004370.6(COL12A1):c.566G>C (p.Arg189Thr)
NM_004370.6(COL12A1):c.5702G>A (p.Arg1901Lys)
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)
NM_004370.6(COL12A1):c.5759G>A (p.Gly1920Asp)
NM_004370.6(COL12A1):c.5780A>T (p.Asp1927Val)
NM_004370.6(COL12A1):c.5798T>A (p.Met1933Lys)
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly) rs1474687066
NM_004370.6(COL12A1):c.5803G>C (p.Gly1935Arg)
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr) rs1562184031
NM_004370.6(COL12A1):c.5816A>G (p.Asn1939Ser)
NM_004370.6(COL12A1):c.5833C>T (p.Pro1945Ser) rs2149385420
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly) rs1766324604
NM_004370.6(COL12A1):c.585T>G (p.Asn195Lys) rs2149475684
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser) rs200487396
NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)
NM_004370.6(COL12A1):c.5960G>A (p.Arg1987His)
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys) rs1400789071
NM_004370.6(COL12A1):c.6048C>A (p.Ser2016Arg) rs369770672
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser) rs780638272
NM_004370.6(COL12A1):c.6068-306T>C rs75929432
NM_004370.6(COL12A1):c.6102T>A (p.Phe2034Leu) rs2149382623
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu) rs200777154
NM_004370.6(COL12A1):c.6172A>G (p.Ile2058Val)
NM_004370.6(COL12A1):c.6176A>G (p.Tyr2059Cys)
NM_004370.6(COL12A1):c.6202G>A (p.Asp2068Asn) rs751691332
NM_004370.6(COL12A1):c.6202G>C (p.Asp2068His)
NM_004370.6(COL12A1):c.6211-196G>T rs62415671
NM_004370.6(COL12A1):c.6250C>G (p.Pro2084Ala)
NM_004370.6(COL12A1):c.6267T>C (p.Thr2089=)
NM_004370.6(COL12A1):c.6308A>G (p.Asp2103Gly)
NM_004370.6(COL12A1):c.6326G>C (p.Gly2109Ala)
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys) rs1402262599
NM_004370.6(COL12A1):c.6460+74C>T rs79956561
NM_004370.6(COL12A1):c.6461-13G>A rs918304438
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser) rs2149475535
NM_004370.6(COL12A1):c.6500C>G (p.Thr2167Arg) rs2149375589
NM_004370.6(COL12A1):c.6507T>A (p.Tyr2169Ter)
NM_004370.6(COL12A1):c.6518A>G (p.Asn2173Ser)
NM_004370.6(COL12A1):c.652A>G (p.Met218Val) rs2149475531
NM_004370.6(COL12A1):c.6550G>A (p.Val2184Ile)
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe) rs1765951451
NM_004370.6(COL12A1):c.658+3A>G
NM_004370.6(COL12A1):c.6599G>A (p.Gly2200Asp) rs2149375411
NM_004370.6(COL12A1):c.6604A>G (p.Thr2202Ala) rs2149375402
NM_004370.6(COL12A1):c.6607+3G>A
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp) rs759202641
NM_004370.6(COL12A1):c.6725-66G>T rs240722
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile) rs746250737
NM_004370.6(COL12A1):c.6731G>A (p.Arg2244Lys) rs2149373808
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys) rs754290184
NM_004370.6(COL12A1):c.6779C>G (p.Thr2260Ser)
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs) rs1765881602
NM_004370.6(COL12A1):c.6842G>A (p.Gly2281Glu) rs2149373537
NM_004370.6(COL12A1):c.6843A>G (p.Gly2281=) rs1582087085
NM_004370.6(COL12A1):c.6845C>T (p.Pro2282Leu)
NM_004370.6(COL12A1):c.6940C>G (p.Arg2314Gly)
NM_004370.6(COL12A1):c.6949T>C (p.Cys2317Arg)
NM_004370.6(COL12A1):c.6980T>G (p.Leu2327Trp)
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp) rs1055080261
NM_004370.6(COL12A1):c.7086+7G>T rs750996283
NM_004370.6(COL12A1):c.727A>G (p.Lys243Glu)
NM_004370.6(COL12A1):c.7362T>G (p.Ser2454Arg)
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile) rs2149363695
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
NM_004370.6(COL12A1):c.74-15CT[3] rs756206757
NM_004370.6(COL12A1):c.7463C>G (p.Ser2488Cys)
NM_004370.6(COL12A1):c.7519+1G>A rs1064797326
NM_004370.6(COL12A1):c.7520-6T>C rs2149361702
NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)
NM_004370.6(COL12A1):c.7531A>G (p.Ile2511Val)
NM_004370.6(COL12A1):c.7540G>A (p.Asp2514Asn)
NM_004370.6(COL12A1):c.7559G>C (p.Gly2520Ala)
NM_004370.6(COL12A1):c.7582A>G (p.Asn2528Asp)
NM_004370.6(COL12A1):c.7596G>T (p.Lys2532Asn)
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser) rs1769052516
NM_004370.6(COL12A1):c.7616G>A (p.Gly2539Glu)
NM_004370.6(COL12A1):c.7627G>C (p.Glu2543Gln) rs1361188088
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp) rs1302611725
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
NM_004370.6(COL12A1):c.7698-19_7698-15del rs141102808
NM_004370.6(COL12A1):c.7736T>C (p.Ile2579Thr)
NM_004370.6(COL12A1):c.7777C>T (p.Pro2593Ser)
NM_004370.6(COL12A1):c.7803_7806del (p.Asp2601fs)
NM_004370.6(COL12A1):c.7844C>A (p.Ser2615Tyr) rs2149358241
NM_004370.6(COL12A1):c.7854G>A (p.Thr2618=) rs190984968
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.6(COL12A1):c.7868A>G (p.Asn2623Ser)
NM_004370.6(COL12A1):c.7905T>A (p.Phe2635Leu)
NM_004370.6(COL12A1):c.7907A>G (p.Asp2636Gly)
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del) rs1238774939
NM_004370.6(COL12A1):c.7930T>C (p.Phe2644Leu)
NM_004370.6(COL12A1):c.7936G>A (p.Gly2646Arg) rs779477270
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
NM_004370.6(COL12A1):c.797A>G (p.Asn266Ser)
NM_004370.6(COL12A1):c.7991T>C (p.Ile2664Thr) rs1768708384
NM_004370.6(COL12A1):c.7992del (p.Ile2664fs) rs1768708203
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met) rs536679905
NM_004370.6(COL12A1):c.8065G>A (p.Gly2689Arg) rs1554169319
NM_004370.6(COL12A1):c.8081G>T (p.Gly2694Val) rs1131691271
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
NM_004370.6(COL12A1):c.8100+3_8100+6del rs2149352927
NM_004370.6(COL12A1):c.8114G>A (p.Ser2705Asn)
NM_004370.6(COL12A1):c.811G>T (p.Val271Phe)
NM_004370.6(COL12A1):c.8136A>C (p.Pro2712=)
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)
NM_004370.6(COL12A1):c.8170C>T (p.Pro2724Ser)
NM_004370.6(COL12A1):c.8179-12T>G
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
NM_004370.6(COL12A1):c.8231A>G (p.Asp2744Gly)
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
NM_004370.6(COL12A1):c.824G>T (p.Gly275Val)
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr) rs1768489455
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp) rs1768488927
NM_004370.6(COL12A1):c.8265+2T>C rs1064795770
NM_004370.6(COL12A1):c.8265+5G>A
NM_004370.6(COL12A1):c.8266-6T>G
NM_004370.6(COL12A1):c.8302G>A (p.Gly2768Ser)
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val) rs1476228934
NM_004370.6(COL12A1):c.8323C>T (p.Pro2775Ser)
NM_004370.6(COL12A1):c.8330G>T (p.Gly2777Val)
NM_004370.6(COL12A1):c.8332C>T (p.Pro2778Ser)
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
NM_004370.6(COL12A1):c.8342A>T (p.Asp2781Val) rs1197055761
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu) rs997353607
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu) rs1160043441
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg) rs1768359621
NM_004370.6(COL12A1):c.8366G>T (p.Gly2789Val)
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg) rs1582050802
NM_004370.6(COL12A1):c.8408G>C (p.Gly2803Ala)
NM_004370.6(COL12A1):c.8411A>G (p.Glu2804Gly)
NM_004370.6(COL12A1):c.8415+3A>T
NM_004370.6(COL12A1):c.8459C>T (p.Pro2820Leu) rs1554168325
NM_004370.6(COL12A1):c.8462G>A (p.Gly2821Asp)
NM_004370.6(COL12A1):c.8467A>T (p.Thr2823Ser) rs768691372
NM_004370.6(COL12A1):c.8470-78del rs368328098
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.8524-161dup rs200980817
NM_004370.6(COL12A1):c.8555C>A (p.Pro2852His)
NM_004370.6(COL12A1):c.8577+1G>A
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg) rs1554167424
NM_004370.6(COL12A1):c.8618A>C (p.Lys2873Thr)
NM_004370.6(COL12A1):c.8623G>A (p.Gly2875Arg)
NM_004370.6(COL12A1):c.8645G>C (p.Arg2882Thr)
NM_004370.6(COL12A1):c.8649+161A>T rs116793648
NM_004370.6(COL12A1):c.8650-300dup rs146907304
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
NM_004370.6(COL12A1):c.8678G>T (p.Gly2893Val) rs2149328791
NM_004370.6(COL12A1):c.8690A>T (p.Asp2897Val)
NM_004370.6(COL12A1):c.8707A>T (p.Met2903Leu)
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) rs371399251
NM_004370.6(COL12A1):c.8746A>G (p.Ile2916Val) rs2149328494
NM_004370.6(COL12A1):c.8752+108A>G rs3765496
NM_004370.6(COL12A1):c.8760G>T (p.Met2920Ile)
NM_004370.6(COL12A1):c.8801A>G (p.Tyr2934Cys)
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu) rs752206319
NM_004370.6(COL12A1):c.8941+16T>C
NM_004370.6(COL12A1):c.8966G>A (p.Arg2989Lys)
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
NM_004370.6(COL12A1):c.9010+6T>G
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu) rs1767574773
NM_004370.6(COL12A1):c.902A>T (p.Asn301Ile) rs1769747613
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=) rs572512247
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs) rs2149322917
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys) rs1767569916
NM_004370.6(COL12A1):c.9103C>T (p.Arg3035Ter)
NM_004370.6(COL12A1):c.9109C>A (p.Pro3037Thr)
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val) rs751471471
NM_004370.6(COL12A1):c.9142C>T (p.Gln3048Ter) rs1131691933
NM_004370.6(COL12A1):c.9166G>A (p.Gly3056Arg)
NM_004370.6(COL12A1):c.9172_9173delinsAA (p.Gly3058Asn) rs2149322669
NM_004370.6(COL12A1):c.9181+295del rs11289042
NM_004370.6(COL12A1):c.9181+5G>A
NM_004370.6(COL12A1):c.9182-115TA[11] rs61611291
NM_004370.6(COL12A1):c.9182-115TA[13] rs61611291
NM_004370.6(COL12A1):c.9182-115TA[14] rs61611291
NM_004370.6(COL12A1):c.9182-115TA[15] rs61611291
NM_004370.6(COL12A1):c.998-134C>A rs79633796

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.