ClinVar Miner

List of variants in gene COL11A1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2431
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.3601-293= rs6577340 0.99999
NM_001854.4(COL11A1):c.2917-73C>T rs1841834 0.93914
NM_001854.4(COL11A1):c.3385-292T>A rs1463047 0.93868
NM_001854.4(COL11A1):c.2556+96C>G rs2615978 0.93854
NM_001854.4(COL11A1):c.4302+305T>C rs1676496 0.93834
NM_001854.4(COL11A1):c.780+52C>A rs7523441 0.93277
NM_001854.4(COL11A1):c.2862+149C>T rs2061710 0.92278
NM_001854.4(COL11A1):c.1998+162T>C rs2251895 0.91380
NM_001854.4(COL11A1):c.2098-90G>A rs2929162 0.91372
NM_001854.4(COL11A1):c.2295+37A>T rs2622867 0.91369
NM_001854.4(COL11A1):c.2241+250A>G rs2622868 0.89148
NM_001854.4(COL11A1):c.106+82C>T rs6691654 0.87303
NM_001854.4(COL11A1):c.2143-57C>A rs2622870 0.85633
NM_001854.4(COL11A1):c.2241+163T>C rs2786125 0.85602
NM_001854.4(COL11A1):c.3438+268T>C rs1564140 0.84020
NM_001854.4(COL11A1):c.2341-90G>A rs1463034 0.82409
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486 0.81716
NM_001854.4(COL11A1):c.2143-142A>T rs10874672 0.80810
NM_001854.4(COL11A1):c.107-295G>A rs1337183 0.76839
NM_001854.4(COL11A1):c.3492+217G>A rs2045818 0.75665
NM_001854.4(COL11A1):c.3492+125C>T rs11164641 0.75610
NM_001854.4(COL11A1):c.3492+124T>A rs11164642 0.75596
NM_001854.4(COL11A1):c.4356+242T>G rs1241163 0.69182
NM_001854.4(COL11A1):c.3762+214C>T rs11801437 0.66564
NM_001854.4(COL11A1):c.3708+267G>A rs10127706 0.66558
NM_001854.4(COL11A1):c.3709-565A>G rs10127873 0.66556
NM_001854.4(COL11A1):c.3493-202A>G rs2045819 0.66491
NM_001854.4(COL11A1):c.4303-108T>G rs1085 0.64733
NM_001854.4(COL11A1):c.4608+266G>A rs2783569 0.64406
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347 0.64340
NM_001854.4(COL11A1):c.4033-200T>G rs11164636 0.63093
NM_001854.4(COL11A1):c.3438+207A>G rs2126643 0.62036
NM_001854.4(COL11A1):c.651+193T>C rs7522293 0.59254
NM_001854.4(COL11A1):c.4608+199G>A rs2615980 0.58253
NM_001854.4(COL11A1):c.1351-76G>A rs945748 0.58206
NM_001854.4(COL11A1):c.2611-19A>C rs11164649 0.57301
NM_001854.4(COL11A1):c.3979-302T>C rs4908272 0.51923
NM_001854.4(COL11A1):c.4302+303C>T rs6677574 0.50065
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841 0.50032
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783 0.49335
NM_001854.4(COL11A1):c.2143-291A>G rs11164653 0.49108
NM_001854.4(COL11A1):c.274+42G>C rs11164662 0.48053
NM_001854.4(COL11A1):c.4609-161G>A rs11164628 0.47886
NM_001854.4(COL11A1):c.4609-189C>T rs11164629 0.47867
NM_001854.4(COL11A1):c.4608+233T>A rs11164632 0.47850
NM_001854.4(COL11A1):c.4608+200C>A rs11164633 0.47839
NM_001854.4(COL11A1):c.2656-28T>C rs1903787 0.32791
NM_001854.4(COL11A1):c.3168+41T>C rs1012282 0.29091
NM_001854.4(COL11A1):c.2557-232C>T rs2622846 0.29081
NM_001854.4(COL11A1):c.2395-83C>G rs2622858 0.25401
NM_001854.4(COL11A1):c.2809-313T>C rs11164648 0.22522
NM_001854.4(COL11A1):c.489-153T>C rs34822172 0.19254
NM_001854.4(COL11A1):c.*1183A>G rs9659030 0.19114
NM_001854.4(COL11A1):c.3384+90C>T rs2126642 0.18906
NM_001854.4(COL11A1):c.2556+293del rs76843235 0.16284
NM_001854.4(COL11A1):c.274+150T>A rs1337184 0.15610
NM_001854.4(COL11A1):c.107-149T>C rs61817086 0.15484
NM_001854.4(COL11A1):c.488+23G>A rs6668897 0.14061
NM_001854.4(COL11A1):c.275-7T>C rs12136865 0.14046
NM_001854.4(COL11A1):c.489-302A>G rs61817084 0.14038
NM_001854.4(COL11A1):c.3025-173T>A rs4353117 0.13502
NM_001854.4(COL11A1):c.3168+277G>A rs1012283 0.13496
NM_001854.4(COL11A1):c.4141-80T>A rs1676497 0.13455
NM_001854.4(COL11A1):c.4971+295T>A rs3753844 0.12266
NM_001854.4(COL11A1):c.4608+18A>G rs17127203 0.12045
NM_001854.4(COL11A1):c.107-254C>G rs11164664 0.12037
NM_001854.4(COL11A1):c.4303-47T>C rs11164634 0.11796
NM_001854.4(COL11A1):c.4357-335C>G rs1241162 0.11528
NM_001854.4(COL11A1):c.3817-26C>T rs577266494 0.11182
NM_001854.4(COL11A1):c.3816+58G>A rs4908273 0.11149
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966 0.11088
NM_001854.4(COL11A1):c.2098-71T>C rs12135531 0.10869
NM_001854.4(COL11A1):c.1998+4T>A rs12136577 0.10860
NM_001854.4(COL11A1):c.2142+258A>G rs12131957 0.10464
NM_001854.4(COL11A1):c.4608+142A>T rs2783570 0.10382
NM_001854.4(COL11A1):c.1489-237A>G rs12140023 0.10100
NM_001854.4(COL11A1):c.*105C>T rs1031820 0.10018
NM_001854.4(COL11A1):c.3978+38T>G rs28648038 0.09396
NM_001854.4(COL11A1):c.3979-299T>A rs992100 0.09384
NM_001854.4(COL11A1):c.4032+189T>G rs80104501 0.09379
NM_001854.4(COL11A1):c.4141-67G>A rs1763344 0.08992
NM_001854.4(COL11A1):c.4087-215T>A rs1676500 0.08934
NM_001854.4(COL11A1):c.4248+102A>C rs1621055 0.08933
NM_001854.4(COL11A1):c.4249-166T>G rs1622838 0.08933
NM_001854.4(COL11A1):c.4087-68T>A rs1676498 0.08928
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663 0.08714
NM_001854.4(COL11A1):c.3979-278A>G rs992099 0.08510
NM_001854.4(COL11A1):c.4032+204T>A rs1463043 0.08505
NM_001854.4(COL11A1):c.1245+125C>T rs34229612 0.08029
NM_001854.4(COL11A1):c.781-189C>T rs78438559 0.08028
NM_001854.4(COL11A1):c.781-380C>A rs77847487 0.08026
NM_001854.4(COL11A1):c.652-75C>T rs71664967 0.08023
NM_001854.4(COL11A1):c.781-220T>C rs78668559 0.08016
NM_001854.4(COL11A1):c.898-292A>C rs12731843 0.08016
NM_001854.4(COL11A1):c.1308+19A>G rs34587338 0.08015
NM_001854.4(COL11A1):c.897+203C>A rs12750407 0.08010
NM_001854.4(COL11A1):c.3025-23A>T rs55682104 0.07912
NM_001854.4(COL11A1):c.1629+150T>C rs2786122 0.06876
NM_001854.4(COL11A1):c.2754+139T>G rs2616018 0.06577
NM_001854.4(COL11A1):c.2809-107A>G rs2253854 0.06517
NM_001854.4(COL11A1):c.3600+99C>T rs11164640 0.06303
NM_001854.4(COL11A1):c.3817-105A>T rs116009678 0.06127
NM_001854.4(COL11A1):c.3979-259G>A rs992098 0.06113
NM_001854.4(COL11A1):c.3979-174G>A rs12135438 0.06087
NM_001854.4(COL11A1):c.4033-295C>A rs12119468 0.06056
NM_001854.4(COL11A1):c.4033-179G>A rs12133515 0.06053
NM_001854.4(COL11A1):c.3763-56A>G rs12120961 0.06052
NM_001854.4(COL11A1):c.3924+132C>T rs12121498 0.06051
NM_001854.4(COL11A1):c.3817-119C>T rs111980222 0.06048
NM_001854.4(COL11A1):c.*1105C>T rs12073619 0.05971
NM_001854.4(COL11A1):c.4972-95T>C rs12140745 0.05847
NM_001854.4(COL11A1):c.2917-238G>A rs10874666 0.05727
NM_001854.4(COL11A1):c.2502+317A>G rs12121894 0.05717
NM_001854.4(COL11A1):c.3168+15A>G rs1012281 0.05717
NM_001854.4(COL11A1):c.*301A>G rs12731575 0.04880
NM_001854.4(COL11A1):c.2241+89C>T rs2622869 0.04647
NM_001854.4(COL11A1):c.1414-226A>G rs112596718 0.04639
NM_001854.4(COL11A1):c.2143-315A>G rs2622871 0.04636
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_001854.4(COL11A1):c.3276+238T>G rs76926820 0.04617
NM_001854.4(COL11A1):c.4302+92T>C rs74108043 0.04490
NM_001854.4(COL11A1):c.4303-176A>G rs1841836 0.04389
NM_001854.4(COL11A1):c.2142+263G>A rs2376279 0.04354
NM_001854.4(COL11A1):c.4972-27A>G rs12086094 0.04345
NM_001854.4(COL11A1):c.1413+18A>T rs17461252 0.04131
NM_001854.4(COL11A1):c.489-92A>G rs72987842 0.03659
NM_001854.4(COL11A1):c.651+197C>A rs35908252 0.03657
NM_001854.4(COL11A1):c.3169-140T>C rs111784238 0.03629
NM_001854.4(COL11A1):c.488+281T>A rs34157185 0.03624
NM_001854.4(COL11A1):c.3169-174T>C rs112522521 0.03619
NM_001854.4(COL11A1):c.781-136C>A rs74606576 0.03573
NM_001854.4(COL11A1):c.2196+183G>A rs35150936 0.03540
NM_001854.4(COL11A1):c.2196+303A>T rs12743150 0.03539
NM_001854.4(COL11A1):c.991-90A>G rs71664959 0.03529
NM_001854.4(COL11A1):c.4971+216C>A rs1463041 0.03527
NM_001854.4(COL11A1):c.2196+242C>T rs12723167 0.03526
NM_001854.4(COL11A1):c.4972-194A>G rs79648533 0.03464
NM_001854.4(COL11A1):c.3709-180G>C rs41292529 0.03339
NM_001854.4(COL11A1):c.4086+174C>G rs139205890 0.03339
NM_001854.4(COL11A1):c.652-183C>T rs75957832 0.03319
NM_001854.4(COL11A1):c.3438+275G>T rs57009972 0.03252
NM_001854.4(COL11A1):c.3493-221T>C rs75382656 0.03244
NM_001854.4(COL11A1):c.4302+95G>T rs12068229 0.03242
NM_001854.4(COL11A1):c.3708+414C>T rs115516103 0.03151
NM_001854.4(COL11A1):c.4859-243C>A rs73000263 0.03045
NM_001854.4(COL11A1):c.107-317A>G rs77587366 0.02906
NM_001854.4(COL11A1):c.1351-199C>T rs12081359 0.02524
NM_001854.4(COL11A1):c.1488+275G>A rs12064207 0.02498
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420 0.02418
NM_001854.4(COL11A1):c.1413+156T>A rs41309169 0.02414
NM_001854.4(COL11A1):c.2556+239C>A rs111430380 0.02394
NM_001854.4(COL11A1):c.1846-270C>T rs71664955 0.02252
NM_001854.4(COL11A1):c.1413+47A>G rs3767272 0.02240
NM_001854.4(COL11A1):c.1944+11T>C rs71664954 0.02235
NM_001854.4(COL11A1):c.2754+94G>A rs72985771 0.02214
NM_001854.4(COL11A1):c.2502+56T>C rs72985785 0.02161
NM_001854.4(COL11A1):c.2197-240C>T rs140604412 0.02151
NM_001854.4(COL11A1):c.2142+147T>C rs60080290 0.02142
NM_001854.4(COL11A1):c.-78T>A rs12025921 0.02079
NM_001854.4(COL11A1):c.5275-295A>T rs12133288 0.02048
NM_001854.4(COL11A1):c.4357-220T>C rs56747726 0.02033
NM_001854.4(COL11A1):c.4357-104T>G rs60484126 0.02028
NM_001854.4(COL11A1):c.275-113A>C rs12133536 0.01998
NM_001854.4(COL11A1):c.2197-262A>G rs71664953 0.01972
NM_001854.4(COL11A1):c.1351-231T>G rs74924020 0.01902
NM_001854.4(COL11A1):c.3762+76G>C rs142849188 0.01709
NM_001854.4(COL11A1):c.489-167C>T rs79300645 0.01587
NM_001854.4(COL11A1):c.274+63C>T rs114110904 0.01575
NM_001854.4(COL11A1):c.488+43del rs200663669 0.01572
NM_001854.4(COL11A1):c.651+61A>G rs77713323 0.01560
NM_001854.4(COL11A1):c.489-99C>T rs116786201 0.01556
NM_001854.4(COL11A1):c.651+16A>G rs116303092 0.01555
NM_001854.4(COL11A1):c.651+309G>A rs114450408 0.01554
NM_001854.4(COL11A1):c.2503-113C>A rs112985415 0.01510
NM_001854.4(COL11A1):c.1350+176T>C rs72987806 0.01478
NM_001854.4(COL11A1):c.4859-148G>A rs73000260 0.01465
NM_001854.4(COL11A1):c.897+207A>G rs58786692 0.01464
NM_001854.4(COL11A1):c.3924+19C>T rs77901108 0.01456
NM_001854.4(COL11A1):c.4303-21T>A rs181904530 0.01437
NM_001854.4(COL11A1):c.106+138T>C rs115558182 0.01421
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_001854.4(COL11A1):c.2341-310T>C rs142576727 0.01368
NM_001854.4(COL11A1):c.2917-197C>G rs78602581 0.01316
NM_001854.4(COL11A1):c.3708+182G>T rs74984164 0.01307
NM_001854.4(COL11A1):c.898-38T>A rs79473144 0.01304
NM_001854.4(COL11A1):c.4086+182C>A rs74108054 0.01279
NM_001854.4(COL11A1):c.4303-312T>C rs182493920 0.01186
NM_001854.4(COL11A1):c.652-6T>C rs537778451 0.01171
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519 0.01140
NM_001854.4(COL11A1):c.2097+18C>A rs75124465 0.01139
NM_001854.4(COL11A1):c.2098-45C>T rs114248131 0.01137
NM_001854.4(COL11A1):c.2755-58T>C rs41301263 0.01137
NM_001854.4(COL11A1):c.274+145C>A rs115125690 0.01130
NM_001854.4(COL11A1):c.274+45A>G rs114453998 0.01130
NM_001854.4(COL11A1):c.4249-94T>G rs41292527 0.01055
NM_001854.4(COL11A1):c.3169-16T>C rs76379510 0.00976
NM_001854.4(COL11A1):c.3277-63T>C rs140740778 0.00966
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=) rs74778421 0.00956
NM_001854.4(COL11A1):c.5040+282T>C rs74687046 0.00951
NM_001854.4(COL11A1):c.4302+285C>A rs74316938 0.00947
NM_001854.4(COL11A1):c.3925-124C>T rs146056203 0.00935
NM_001854.4(COL11A1):c.2503-239C>T rs72985779 0.00918
NM_001854.4(COL11A1):c.990+69C>T rs41292531 0.00911
NM_001854.4(COL11A1):c.4140+10A>T rs187171126 0.00906
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00897
NM_001854.4(COL11A1):c.3924+94A>G rs138811537 0.00891
NM_001854.4(COL11A1):c.3817-270A>G rs148448528 0.00861
NM_001854.4(COL11A1):c.107-206G>A rs114694485 0.00778
NM_001854.4(COL11A1):c.2557-138G>A rs114094014 0.00725
NM_001854.4(COL11A1):c.*1322G>A rs139810625 0.00724
NM_001854.4(COL11A1):c.*632G>A rs74108029 0.00700
NM_001854.4(COL11A1):c.*704T>C rs74108028 0.00636
NM_001854.4(COL11A1):c.3978+146C>T rs74765205 0.00594
NM_001854.4(COL11A1):c.4858+305_4858+306del rs554200136 0.00575
NM_001854.4(COL11A1):c.3817-5T>C rs201155391 0.00566
NM_001854.4(COL11A1):c.*1203G>A rs190577885 0.00554
NM_001854.4(COL11A1):c.4303-100G>A rs151074940 0.00527
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001854.4(COL11A1):c.990+191C>T rs190936891 0.00497
NM_001854.4(COL11A1):c.2916+27G>A rs147069719 0.00469
NM_001854.4(COL11A1):c.2754+69A>G rs11800347 0.00468
NM_001854.4(COL11A1):c.3276+277_3276+278insC rs534159498 0.00432
NM_001854.4(COL11A1):c.651+223G>A rs139319371 0.00407
NM_001854.4(COL11A1):c.2862+200G>C rs111771790 0.00400
NM_001854.4(COL11A1):c.651+130C>G rs189594192 0.00399
NM_001854.4(COL11A1):c.4302+219T>G rs191669198 0.00392
NM_001854.4(COL11A1):c.2340+310T>C rs116273668 0.00391
NM_001854.4(COL11A1):c.2394+203T>C rs189297916 0.00391
NM_001854.4(COL11A1):c.4608+130A>C rs116183789 0.00386
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=) rs143606220 0.00382
NM_001854.4(COL11A1):c.3276+152G>T rs189834282 0.00382
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_001854.4(COL11A1):c.2917-88G>A rs112756367 0.00346
NM_001854.4(COL11A1):c.3189G>A (p.Gly1063=) rs75915098 0.00345
NC_000001.11:g.103108723C>T rs72987897 0.00344
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_001854.4(COL11A1):c.2557-36G>T rs2622845 0.00331
NM_001854.4(COL11A1):c.2709+48C>A rs149239409 0.00331
NM_001854.4(COL11A1):c.3168+31A>G rs116365261 0.00327
NM_001854.4(COL11A1):c.1999-145T>C rs114036408 0.00304
NM_001854.4(COL11A1):c.3817-17_3817-16insC rs773173330 0.00300
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197 0.00274
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745 0.00267
NM_001854.4(COL11A1):c.898-185T>C rs138792819 0.00263
NM_001854.4(COL11A1):c.3873A>C (p.Gly1291=) rs149367044 0.00257
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_001854.4(COL11A1):c.4140+13T>A rs374901069 0.00214
NM_001854.4(COL11A1):c.3925-11C>T rs192518657 0.00213
NM_001854.4(COL11A1):c.3384+13T>G rs201970483 0.00210
NM_001854.4(COL11A1):c.1246-217T>C rs551276545 0.00191
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00188
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_001854.4(COL11A1):c.3024+13T>C rs201141572 0.00172
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062 0.00161
NM_001854.4(COL11A1):c.*17A>G rs190728953 0.00152
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00116
NM_001854.4(COL11A1):c.4465-17G>A rs201511614 0.00113
NM_001854.4(COL11A1):c.3925-16C>T rs201491791 0.00099
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=) rs138691968 0.00097
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=) rs147247206 0.00096
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001854.4(COL11A1):c.652-7T>C rs760697835 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_001854.4(COL11A1):c.489-7T>G rs372555374 0.00068
NM_001854.4(COL11A1):c.3384+18G>A rs200425985 0.00066
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala) rs144966407 0.00037
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) rs149558726 0.00036
NM_001854.4(COL11A1):c.990+7C>T rs137867554 0.00036
NM_001854.4(COL11A1):c.2917-20A>G rs371776916 0.00032
NM_001854.4(COL11A1):c.489-4T>A rs371357098 0.00032
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00031
NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly) rs139480042 0.00030
NM_001854.4(COL11A1):c.139T>A (p.Phe47Ile) rs143159512 0.00030
NM_001854.4(COL11A1):c.4608+13T>G rs201561225 0.00030
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_001854.4(COL11A1):c.3601-5C>G rs201968369 0.00028
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636 0.00024
NM_001854.4(COL11A1):c.898-15T>C rs200242905 0.00024
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171 0.00023
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile) rs199835797 0.00022
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser) rs367824632 0.00021
NM_001854.4(COL11A1):c.652-13T>G rs776608546 0.00020
NM_001854.4(COL11A1):c.4554+8C>T rs372206712 0.00019
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784 0.00019
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_001854.4(COL11A1):c.1296A>G (p.Ala432=) rs768321160 0.00018
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429 0.00018
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398 0.00018
NM_001854.4(COL11A1):c.2340+18A>C rs369219525 0.00017
NM_001854.4(COL11A1):c.1246-6C>T rs199855455 0.00016
NM_001854.4(COL11A1):c.2295+6G>A rs372529718 0.00016
NM_001854.4(COL11A1):c.3115-12C>T rs1009682657 0.00015
NM_001854.4(COL11A1):c.4032+18T>C rs190625412 0.00015
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_001854.4(COL11A1):c.1630-13T>C rs370547604 0.00014
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979 0.00014
NM_001854.4(COL11A1):c.3816+15A>T rs374295267 0.00014
NM_001854.4(COL11A1):c.4270G>C (p.Ala1424Pro) rs371230505 0.00014
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580 0.00014
NM_001854.4(COL11A1):c.946A>G (p.Ser316Gly) rs369794634 0.00014
NM_001854.4(COL11A1):c.2043+9C>A rs375495703 0.00013
NM_001854.4(COL11A1):c.3492+3G>A rs372941709 0.00013
NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro) rs370534700 0.00013
NM_001854.4(COL11A1):c.4971+11A>G rs995074235 0.00013
NM_001854.4(COL11A1):c.882A>G (p.Thr294=) rs201141662 0.00013
NM_001854.4(COL11A1):c.1504G>T (p.Asp502Tyr) rs1212773301 0.00012
NM_001854.4(COL11A1):c.4140+13del rs781736900 0.00012
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_001854.4(COL11A1):c.1572+10G>A rs1270301195 0.00011
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355 0.00011
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln) rs142523692 0.00011
NM_001854.4(COL11A1):c.3438+11T>C rs765352070 0.00011
NM_001854.4(COL11A1):c.4200T>C (p.Pro1400=) rs370559180 0.00011
NM_001854.4(COL11A1):c.4380G>A (p.Leu1460=) rs180734278 0.00011
NM_001854.4(COL11A1):c.4391C>T (p.Pro1464Leu) rs1342522458 0.00011
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=) rs369265343 0.00011
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001854.4(COL11A1):c.489-16T>C rs371086230 0.00010
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val) rs779282500 0.00010
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00009
NM_001854.4(COL11A1):c.158G>A (p.Gly53Glu) rs139542185 0.00009
NM_001854.4(COL11A1):c.1630-4A>G rs745811285 0.00009
NM_001854.4(COL11A1):c.1945-13C>A rs12075061 0.00009
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) rs192842970 0.00009
NM_001854.4(COL11A1):c.3138G>C (p.Gly1046=) rs771925794 0.00009
NM_001854.4(COL11A1):c.3708+18T>C rs200193791 0.00009
NM_001854.4(COL11A1):c.4087-4A>G rs137999403 0.00009
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met) rs759287748 0.00009
NM_001854.4(COL11A1):c.1032G>A (p.Thr344=) rs367998577 0.00008
NM_001854.4(COL11A1):c.1690C>G (p.Arg564Gly) rs776268452 0.00008
NM_001854.4(COL11A1):c.2325A>C (p.Gly775=) rs779348315 0.00008
NM_001854.4(COL11A1):c.269T>A (p.Phe90Tyr) rs986681092 0.00008
NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr) rs377044024 0.00008
NM_001854.4(COL11A1):c.4033-12C>T rs745961028 0.00008
NM_001854.4(COL11A1):c.456C>T (p.Pro152=) rs751512442 0.00008
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_001854.4(COL11A1):c.*9C>G rs371551881 0.00007
NM_001854.4(COL11A1):c.107-12C>T rs200564243 0.00007
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys) rs372387693 0.00007
NM_001854.4(COL11A1):c.1846-7T>A rs1427233055 0.00007
NM_001854.4(COL11A1):c.1853G>A (p.Arg618Gln) rs192313594 0.00007
NM_001854.4(COL11A1):c.2150A>G (p.Gln717Arg) rs142524348 0.00007
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769 0.00007
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288 0.00007
NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn) rs144510951 0.00007
NM_001854.4(COL11A1):c.652-18T>G rs200309861 0.00007
NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn) rs572826781 0.00006
NM_001854.4(COL11A1):c.1244G>A (p.Ser415Asn) rs777310574 0.00006
NM_001854.4(COL11A1):c.1684-7G>C rs201494436 0.00006
NM_001854.4(COL11A1):c.1798C>A (p.Arg600=) rs747461816 0.00006
NM_001854.4(COL11A1):c.1818G>A (p.Pro606=) rs748195901 0.00006
NM_001854.4(COL11A1):c.1833C>T (p.Asp611=) rs757133349 0.00006
NM_001854.4(COL11A1):c.1899+3A>G rs374676938 0.00006
NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg) rs199875795 0.00006
NM_001854.4(COL11A1):c.2196+7A>G rs750845068 0.00006
NM_001854.4(COL11A1):c.2246C>T (p.Pro749Leu) rs776773238 0.00006
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg) rs760387652 0.00006
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) rs370589018 0.00006
NM_001854.4(COL11A1):c.3384+15T>C rs762241754 0.00006
NM_001854.4(COL11A1):c.3600+8G>A rs188045535 0.00006
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=) rs767276283 0.00006
NM_001854.4(COL11A1):c.4032+16A>G rs200202502 0.00006
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro) rs775587076 0.00006
NM_001854.4(COL11A1):c.4328A>C (p.Lys1443Thr) rs769350133 0.00006
NM_001854.4(COL11A1):c.4586T>C (p.Leu1529Pro) rs578137786 0.00006
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_001854.4(COL11A1):c.1683+20C>G rs373143275 0.00005
NM_001854.4(COL11A1):c.2097+3A>G rs770210430 0.00005
NM_001854.4(COL11A1):c.2168C>A (p.Ala723Asp) rs758354863 0.00005
NM_001854.4(COL11A1):c.4177G>A (p.Gly1393Ser) rs767950147 0.00005
NM_001854.4(COL11A1):c.1177C>A (p.Pro393Thr) rs556692411 0.00004
NM_001854.4(COL11A1):c.1320C>T (p.Val440=) rs201585594 0.00004
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His) rs752749747 0.00004
NM_001854.4(COL11A1):c.1444G>A (p.Ala482Thr) rs150428394 0.00004
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met) rs770162224 0.00004
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu) rs534777436 0.00004
NM_001854.4(COL11A1):c.1906G>T (p.Asp636Tyr) rs368447146 0.00004
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) rs142506188 0.00004
NM_001854.4(COL11A1):c.1998+15A>C rs779795112 0.00004
NM_001854.4(COL11A1):c.2241+6T>C rs374197371 0.00004
NM_001854.4(COL11A1):c.2295+5C>T rs369103119 0.00004
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn) rs762668220 0.00004
NM_001854.4(COL11A1):c.2610+17T>C rs374394690 0.00004
NM_001854.4(COL11A1):c.2610+18G>A rs750906344 0.00004
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 0.00004
NM_001854.4(COL11A1):c.2656-20T>C rs886038501 0.00004
NM_001854.4(COL11A1):c.275-14C>T rs370321983 0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001854.4(COL11A1):c.3025-11A>G rs745667185 0.00004
NM_001854.4(COL11A1):c.3115G>T (p.Gly1039Cys) rs764282256 0.00004
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His) rs148464130 0.00004
NM_001854.4(COL11A1):c.3230C>T (p.Pro1077Leu) rs373734529 0.00004
NM_001854.4(COL11A1):c.3417C>T (p.Ser1139=) rs775702250 0.00004
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val) rs138507620 0.00004
NM_001854.4(COL11A1):c.3866C>G (p.Ala1289Gly) rs759561852 0.00004
NM_001854.4(COL11A1):c.4066C>T (p.Pro1356Ser) rs772400369 0.00004
NM_001854.4(COL11A1):c.4141-8T>A rs373760183 0.00004
NM_001854.4(COL11A1):c.4178G>A (p.Gly1393Asp) rs761963308 0.00004
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=) rs917541931 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_001854.4(COL11A1):c.4656A>G (p.Lys1552=) rs769593192 0.00004
NM_001854.4(COL11A1):c.4858+6T>C rs138202640 0.00004
NM_001854.4(COL11A1):c.4925C>T (p.Thr1642Ile) rs1173031118 0.00004
NM_001854.4(COL11A1):c.510C>T (p.Ser170=) rs749497678 0.00004
NM_001854.4(COL11A1):c.5414T>A (p.Leu1805His) rs779088327 0.00004
NM_001854.4(COL11A1):c.70T>C (p.Leu24=) rs757861232 0.00004
NM_001854.4(COL11A1):c.781-10T>C rs530565995 0.00004
NM_001854.4(COL11A1):c.784G>A (p.Ala262Thr) rs777664906 0.00004
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu) rs945959591 0.00004
NM_001854.4(COL11A1):c.897+11A>G rs900322028 0.00004
NM_001854.4(COL11A1):c.903C>A (p.Asn301Lys) rs112484990 0.00004
NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr) rs779346604 0.00004
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn) rs199942159 0.00003
NM_001854.4(COL11A1):c.1043A>T (p.Tyr348Phe) rs539811607 0.00003
NM_001854.4(COL11A1):c.1137C>T (p.Gly379=) rs745798103 0.00003
NM_001854.4(COL11A1):c.1147T>A (p.Phe383Ile) rs368746938 0.00003
NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser) rs1156500992 0.00003
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=) rs371490794 0.00003
NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val) rs775644641 0.00003
NM_001854.4(COL11A1):c.1341A>G (p.Ala447=) rs372963982 0.00003
NM_001854.4(COL11A1):c.1426C>T (p.Arg476Cys) rs756352775 0.00003
NM_001854.4(COL11A1):c.1488G>A (p.Pro496=) rs772310071 0.00003
NM_001854.4(COL11A1):c.1998+11C>T rs375664445 0.00003
NM_001854.4(COL11A1):c.2098-4A>T rs759906097 0.00003
NM_001854.4(COL11A1):c.2143-18T>A rs761940869 0.00003
NM_001854.4(COL11A1):c.2143-5A>G rs749510866 0.00003
NM_001854.4(COL11A1):c.2280C>T (p.Gly760=) rs745385206 0.00003
NM_001854.4(COL11A1):c.2397A>T (p.Gly799=) rs781179434 0.00003
NM_001854.4(COL11A1):c.2506A>G (p.Lys836Glu) rs1319482941 0.00003
NM_001854.4(COL11A1):c.274+13T>C rs778490820 0.00003
NM_001854.4(COL11A1):c.2754+50A>C rs202051513 0.00003
NM_001854.4(COL11A1):c.2859G>A (p.Glu953=) rs758201913 0.00003
NM_001854.4(COL11A1):c.2925C>T (p.Thr975=) rs369136682 0.00003
NM_001854.4(COL11A1):c.3169-15T>C rs1457371081 0.00003
NM_001854.4(COL11A1):c.3344C>T (p.Pro1115Leu) rs958678153 0.00003
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=) rs375400337 0.00003
NM_001854.4(COL11A1):c.35G>A (p.Arg12Gln) rs767496065 0.00003
NM_001854.4(COL11A1):c.3652A>G (p.Met1218Val) rs951017335 0.00003
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu) rs750838060 0.00003
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser) rs370988085 0.00003
NM_001854.4(COL11A1):c.4032+5G>A rs770333147 0.00003
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg) rs986400534 0.00003
NM_001854.4(COL11A1):c.4140+6A>G rs191656980 0.00003
NM_001854.4(COL11A1):c.4176C>A (p.Thr1392=) rs750903509 0.00003
NM_001854.4(COL11A1):c.4213G>A (p.Gly1405Ser) rs376137502 0.00003
NM_001854.4(COL11A1):c.426C>T (p.His142=) rs561435432 0.00003
NM_001854.4(COL11A1):c.4554+19G>C rs200793857 0.00003
NM_001854.4(COL11A1):c.4561G>A (p.Ala1521Thr) rs769920499 0.00003
NM_001854.4(COL11A1):c.4749C>T (p.Leu1583=) rs533761924 0.00003
NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=) rs770392400 0.00003
NM_001854.4(COL11A1):c.602A>G (p.Asn201Ser) rs201647477 0.00003
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474 0.00003
NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met) rs544289862 0.00002
NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys) rs761451204 0.00002
NM_001854.4(COL11A1):c.1055G>A (p.Arg352Lys) rs763739377 0.00002
NM_001854.4(COL11A1):c.1098C>T (p.Asp366=) rs369719875 0.00002
NM_001854.4(COL11A1):c.1309-7G>A rs748684225 0.00002
NM_001854.4(COL11A1):c.1311T>C (p.Gly437=) rs958593292 0.00002
NM_001854.4(COL11A1):c.1629+19G>A rs1048925411 0.00002
NM_001854.4(COL11A1):c.1654A>G (p.Lys552Glu) rs1377225041 0.00002
NM_001854.4(COL11A1):c.1845+11T>G rs201513205 0.00002
NM_001854.4(COL11A1):c.194A>G (p.Lys65Arg) rs200396868 0.00002
NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser) rs375314757 0.00002
NM_001854.4(COL11A1):c.2076A>G (p.Gln692=) rs768247115 0.00002
NM_001854.4(COL11A1):c.2241+3A>G rs759793105 0.00002
NM_001854.4(COL11A1):c.2276C>T (p.Pro759Leu) rs749290763 0.00002
NM_001854.4(COL11A1):c.2520A>G (p.Pro840=) rs942911563 0.00002
NM_001854.4(COL11A1):c.2722G>A (p.Gly908Ser) rs758953085 0.00002
NM_001854.4(COL11A1):c.2754+4C>T rs201183993 0.00002
NM_001854.4(COL11A1):c.2759C>G (p.Pro920Arg) rs751341336 0.00002
NM_001854.4(COL11A1):c.2780T>C (p.Val927Ala) rs776051361 0.00002
NM_001854.4(COL11A1):c.2813C>G (p.Pro938Arg) rs780040764 0.00002
NM_001854.4(COL11A1):c.3170G>C (p.Gly1057Ala) rs1419574444 0.00002
NM_001854.4(COL11A1):c.3287G>C (p.Gly1096Ala) rs772562171 0.00002
NM_001854.4(COL11A1):c.3361T>G (p.Ser1121Ala) rs778937772 0.00002
NM_001854.4(COL11A1):c.3493-5T>G rs746535602 0.00002
NM_001854.4(COL11A1):c.3706G>A (p.Asp1236Asn) rs140292959 0.00002
NM_001854.4(COL11A1):c.4233C>T (p.Gly1411=) rs139726483 0.00002
NM_001854.4(COL11A1):c.4249G>A (p.Gly1417Arg) rs752921387 0.00002
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=) rs762511819 0.00002
NM_001854.4(COL11A1):c.4336C>T (p.Pro1446Ser) rs975763978 0.00002
NM_001854.4(COL11A1):c.4560C>T (p.Pro1520=) rs780129997 0.00002
NM_001854.4(COL11A1):c.4608+7A>G rs760018604 0.00002
NM_001854.4(COL11A1):c.4672A>G (p.Thr1558Ala) rs144404767 0.00002
NM_001854.4(COL11A1):c.4710T>C (p.Leu1570=) rs1362430090 0.00002
NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=) rs3753842 0.00002
NM_001854.4(COL11A1):c.475A>G (p.Ile159Val) rs774693614 0.00002
NM_001854.4(COL11A1):c.4761A>G (p.Lys1587=) rs375667862 0.00002
NM_001854.4(COL11A1):c.483C>T (p.Asp161=) rs557000127 0.00002
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser) rs377036654 0.00002
NM_001854.4(COL11A1):c.611C>T (p.Thr204Met) rs199595073 0.00002
NM_001854.4(COL11A1):c.652-19del rs772697451 0.00002
NM_001854.4(COL11A1):c.771G>A (p.Gln257=) rs375246473 0.00002
NM_001854.4(COL11A1):c.818A>G (p.Tyr273Cys) rs763484552 0.00002
NM_001854.4(COL11A1):c.81C>A (p.Leu27=) rs1027288806 0.00002
NM_001854.4(COL11A1):c.822G>A (p.Gly274=) rs371943463 0.00002
NM_001854.4(COL11A1):c.898-272A>C rs148225616 0.00002
NM_001854.4(COL11A1):c.898-285G>C rs370745781 0.00002
NM_001854.4(COL11A1):c.921A>G (p.Gln307=) rs534711652 0.00002
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter) rs776004614 0.00001
NM_001854.4(COL11A1):c.1009A>G (p.Ile337Val) rs746403396 0.00001
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg) rs751155680 0.00001
NM_001854.4(COL11A1):c.1054A>T (p.Arg352Trp) rs1402379236 0.00001
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=) rs762727530 0.00001
NM_001854.4(COL11A1):c.105A>C (p.Gly35=) rs754255266 0.00001
NM_001854.4(COL11A1):c.106+11A>G rs766679266 0.00001
NM_001854.4(COL11A1):c.107-8T>C rs1029539954 0.00001
NM_001854.4(COL11A1):c.1090G>A (p.Glu364Lys) rs747054416 0.00001
NM_001854.4(COL11A1):c.1096G>A (p.Asp366Asn) rs773168949 0.00001
NM_001854.4(COL11A1):c.1099G>A (p.Gly367Ser) rs748391176 0.00001
NM_001854.4(COL11A1):c.1100G>A (p.Gly367Asp) rs1402186540 0.00001
NM_001854.4(COL11A1):c.1129G>T (p.Asp377Tyr) rs376421641 0.00001
NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala) rs538837278 0.00001
NM_001854.4(COL11A1):c.1188C>T (p.Pro396=) rs766841299 0.00001
NM_001854.4(COL11A1):c.1211G>A (p.Gly404Asp) rs748335883 0.00001
NM_001854.4(COL11A1):c.1245+9A>T rs1571067732 0.00001
NM_001854.4(COL11A1):c.1309-4A>G rs1006564948 0.00001
NM_001854.4(COL11A1):c.1321G>A (p.Glu441Lys) rs995254814 0.00001
NM_001854.4(COL11A1):c.132A>C (p.Ala44=) rs752983343 0.00001
NM_001854.4(COL11A1):c.1351-4A>G rs748736206 0.00001
NM_001854.4(COL11A1):c.1356T>C (p.Ile452=) rs1388781448 0.00001
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile) rs755173952 0.00001
NM_001854.4(COL11A1):c.1413+6T>C rs1337013861 0.00001
NM_001854.4(COL11A1):c.1414-9T>A rs794727062 0.00001
NM_001854.4(COL11A1):c.1487C>T (p.Pro496Leu) rs371793829 0.00001
NM_001854.4(COL11A1):c.1489-12A>G rs1023414909 0.00001
NM_001854.4(COL11A1):c.1489-18A>C rs374324829 0.00001
NM_001854.4(COL11A1):c.1493G>A (p.Arg498His) rs545363972 0.00001
NM_001854.4(COL11A1):c.1523C>T (p.Thr508Ile) rs1432496942 0.00001
NM_001854.4(COL11A1):c.1537G>A (p.Glu513Lys) rs1288240581 0.00001
NM_001854.4(COL11A1):c.1541C>T (p.Ala514Val) rs374636016 0.00001
NM_001854.4(COL11A1):c.1564C>A (p.Gln522Lys) rs1417430030 0.00001
NM_001854.4(COL11A1):c.1571G>A (p.Arg524Gln) rs1045481406 0.00001
NM_001854.4(COL11A1):c.157G>A (p.Gly53Arg) rs1230337575 0.00001
NM_001854.4(COL11A1):c.1600A>G (p.Met534Val) rs1374892742 0.00001
NM_001854.4(COL11A1):c.1624C>T (p.Pro542Ser) rs745841296 0.00001
NM_001854.4(COL11A1):c.1629+14A>C rs780721477 0.00001
NM_001854.4(COL11A1):c.1706C>T (p.Pro569Leu) rs760689529 0.00001
NM_001854.4(COL11A1):c.1708C>T (p.Pro570Ser) rs1194226000 0.00001
NM_001854.4(COL11A1):c.1717A>G (p.Thr573Ala) rs560019202 0.00001
NM_001854.4(COL11A1):c.1719G>C (p.Thr573=) rs773940700 0.00001
NM_001854.4(COL11A1):c.1737+19G>A rs1389217228 0.00001
NM_001854.4(COL11A1):c.1742G>A (p.Arg581His) rs769449348 0.00001
NM_001854.4(COL11A1):c.1744C>T (p.Pro582Ser) rs746192125 0.00001
NM_001854.4(COL11A1):c.1771C>A (p.Pro591Thr) rs1259922538 0.00001
NM_001854.4(COL11A1):c.1776A>T (p.Gly592=) rs1211057639 0.00001
NM_001854.4(COL11A1):c.1859C>T (p.Pro620Leu) rs777479105 0.00001
NM_001854.4(COL11A1):c.1885G>A (p.Asp629Asn) rs551653403 0.00001
NM_001854.4(COL11A1):c.1899+16T>G rs767808576 0.00001
NM_001854.4(COL11A1):c.1899+8A>G rs372864068 0.00001
NM_001854.4(COL11A1):c.1913A>C (p.Glu638Ala) rs1665410595 0.00001
NM_001854.4(COL11A1):c.191G>A (p.Arg64Lys) rs1272896075 0.00001
NM_001854.4(COL11A1):c.1977T>C (p.Thr659=) rs979334056 0.00001
NM_001854.4(COL11A1):c.1998+20T>C rs769773932 0.00001
NM_001854.4(COL11A1):c.1999G>A (p.Gly667Ser) rs760878512 0.00001
NM_001854.4(COL11A1):c.2044-15A>G rs1321602196 0.00001
NM_001854.4(COL11A1):c.2044-3C>A rs1429349126 0.00001
NM_001854.4(COL11A1):c.2058G>T (p.Glu686Asp) rs369536049 0.00001
NM_001854.4(COL11A1):c.2106T>C (p.Pro702=) rs1361529219 0.00001
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655 0.00001
NM_001854.4(COL11A1):c.2142+12T>C rs1665143931 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.2173C>T (p.Leu725Phe) rs1450257151 0.00001
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu) rs754657948 0.00001
NM_001854.4(COL11A1):c.2191C>T (p.Pro731Ser) rs753495125 0.00001
NM_001854.4(COL11A1):c.2196+15C>T rs768084384 0.00001
NM_001854.4(COL11A1):c.2197-5T>C rs1411336516 0.00001
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg) rs775660447 0.00001
NM_001854.4(COL11A1):c.2266A>G (p.Ile756Val) rs1190680048 0.00001
NM_001854.4(COL11A1):c.2270G>T (p.Gly757Val) rs1664589837 0.00001
NM_001854.4(COL11A1):c.2340+20A>G rs1664575112 0.00001
NM_001854.4(COL11A1):c.2341-17C>T rs563271014 0.00001
NM_001854.4(COL11A1):c.2346A>T (p.Glu782Asp) rs780097762 0.00001
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) rs372419698 0.00001
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu) rs1308067070 0.00001
NM_001854.4(COL11A1):c.2543G>T (p.Arg848Ile) rs781206372 0.00001
NM_001854.4(COL11A1):c.2556+9G>A rs202237215 0.00001
NM_001854.4(COL11A1):c.2557-11T>C rs772339745 0.00001
NM_001854.4(COL11A1):c.2557-14T>C rs546175264 0.00001
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp) rs778379327 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.2635C>T (p.Arg879Trp) rs771754817 0.00001
NM_001854.4(COL11A1):c.2645G>A (p.Arg882His) rs779869745 0.00001
NM_001854.4(COL11A1):c.2710-15T>C rs771270317 0.00001
NM_001854.4(COL11A1):c.2710-16C>A rs1428781981 0.00001
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602 0.00001
NM_001854.4(COL11A1):c.2754+8T>C rs1163729765 0.00001
NM_001854.4(COL11A1):c.275G>T (p.Gly92Val) rs1372284079 0.00001
NM_001854.4(COL11A1):c.2762A>G (p.Gln921Arg) rs764047909 0.00001
NM_001854.4(COL11A1):c.2778A>C (p.Pro926=) rs200115284 0.00001
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His) rs368422725 0.00001
NM_001854.4(COL11A1):c.2808+14C>G rs1015791965 0.00001
NM_001854.4(COL11A1):c.2862+20T>C rs1042693367 0.00001
NM_001854.4(COL11A1):c.2863-3T>A rs771325957 0.00001
NM_001854.4(COL11A1):c.2916+14C>G rs527387345 0.00001
NM_001854.4(COL11A1):c.2917-10T>C rs1486230467 0.00001
NM_001854.4(COL11A1):c.2926G>A (p.Gly976Ser) rs763187998 0.00001
NM_001854.4(COL11A1):c.2951G>A (p.Arg984His) rs147271219 0.00001
NM_001854.4(COL11A1):c.3025-14A>T rs903818490 0.00001
NM_001854.4(COL11A1):c.3031C>A (p.Pro1011Thr) rs578210032 0.00001
NM_001854.4(COL11A1):c.3044G>T (p.Gly1015Val) rs1343845258 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys) rs377320274 0.00001
NM_001854.4(COL11A1):c.3077G>A (p.Arg1026His) rs944650989 0.00001
NM_001854.4(COL11A1):c.3114+16A>G rs980712864 0.00001
NM_001854.4(COL11A1):c.3115-20A>G rs1553218201 0.00001
NM_001854.4(COL11A1):c.3115-5C>T rs757323732 0.00001
NM_001854.4(COL11A1):c.3117T>C (p.Gly1039=) rs763205071 0.00001
NM_001854.4(COL11A1):c.3137G>A (p.Gly1046Glu) rs773157346 0.00001
NM_001854.4(COL11A1):c.3147C>G (p.Pro1049=) rs539284752 0.00001
NM_001854.4(COL11A1):c.3185G>A (p.Arg1062His) rs1234848212 0.00001
NM_001854.4(COL11A1):c.319C>T (p.Pro107Ser) rs1298293526 0.00001
NM_001854.4(COL11A1):c.3210A>G (p.Pro1070=) rs1413151845 0.00001
NM_001854.4(COL11A1):c.322A>G (p.Lys108Glu) rs752692524 0.00001
NM_001854.4(COL11A1):c.3241G>C (p.Gly1081Arg) rs397514455 0.00001
NM_001854.4(COL11A1):c.3271G>A (p.Ala1091Thr) rs1450713198 0.00001
NM_001854.4(COL11A1):c.3276+11T>C rs747403311 0.00001
NM_001854.4(COL11A1):c.3277-5T>C rs1469425202 0.00001
NM_001854.4(COL11A1):c.3283A>G (p.Lys1095Glu) rs761001181 0.00001
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) rs768553239 0.00001
NM_001854.4(COL11A1):c.3319C>G (p.Gln1107Glu) rs1011001694 0.00001
NM_001854.4(COL11A1):c.331A>T (p.Ile111Phe) rs759153754 0.00001
NM_001854.4(COL11A1):c.3383A>G (p.Lys1128Arg) rs1658589699 0.00001
NM_001854.4(COL11A1):c.3385-19T>A rs754980052 0.00001
NM_001854.4(COL11A1):c.3387T>C (p.Gly1129=) rs533984546 0.00001
NM_001854.4(COL11A1):c.3397G>C (p.Glu1133Gln) rs757517185 0.00001
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu) rs764478054 0.00001
NM_001854.4(COL11A1):c.3402G>A (p.Pro1134=) rs763588142 0.00001
NM_001854.4(COL11A1):c.3427A>G (p.Lys1143Glu) rs1182148061 0.00001
NM_001854.4(COL11A1):c.3492+7A>G rs769773255 0.00001
NM_001854.4(COL11A1):c.3493-17T>C rs776451100 0.00001
NM_001854.4(COL11A1):c.3496G>T (p.Gly1166Cys) rs777456846 0.00001
NM_001854.4(COL11A1):c.350C>G (p.Ser117Cys) rs143396707 0.00001
NM_001854.4(COL11A1):c.353T>C (p.Ile118Thr) rs1261502451 0.00001
NM_001854.4(COL11A1):c.3568T>C (p.Phe1190Leu) rs1377819809 0.00001
NM_001854.4(COL11A1):c.3601-11T>C rs746304790 0.00001
NM_001854.4(COL11A1):c.3601-15A>G rs775785452 0.00001
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097 0.00001
NM_001854.4(COL11A1):c.365A>C (p.His122Pro) rs1315092621 0.00001
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser) rs778311240 0.00001
NM_001854.4(COL11A1):c.3709-5T>C rs1437636370 0.00001
NM_001854.4(COL11A1):c.3763-10C>T rs754484644 0.00001
NM_001854.4(COL11A1):c.3763-4A>G rs1194043670 0.00001
NM_001854.4(COL11A1):c.3763-5T>C rs1272015455 0.00001
NM_001854.4(COL11A1):c.3763-7T>C rs753445568 0.00001
NM_001854.4(COL11A1):c.3776A>C (p.Glu1259Ala) rs1232967796 0.00001
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237 0.00001
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=) rs372122122 0.00001
NM_001854.4(COL11A1):c.3794C>T (p.Pro1265Leu) rs775808299 0.00001
NM_001854.4(COL11A1):c.3816C>T (p.Gly1272=) rs973061092 0.00001
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp) rs780739712 0.00001
NM_001854.4(COL11A1):c.3869C>G (p.Ala1290Gly) rs199555214 0.00001
NM_001854.4(COL11A1):c.3874C>A (p.Pro1292Thr) rs1271972029 0.00001
NM_001854.4(COL11A1):c.3911C>G (p.Pro1304Arg) rs1416828428 0.00001
NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu) rs769308801 0.00001
NM_001854.4(COL11A1):c.3938T>A (p.Phe1313Tyr) rs200014253 0.00001
NM_001854.4(COL11A1):c.3979-11G>A rs376294063 0.00001
NM_001854.4(COL11A1):c.3982C>A (p.Gln1328Lys) rs750014974 0.00001
NM_001854.4(COL11A1):c.4031C>T (p.Pro1344Leu) rs528959090 0.00001
NM_001854.4(COL11A1):c.4033-10C>T rs763204252 0.00001
NM_001854.4(COL11A1):c.4033-7T>C rs765726939 0.00001
NM_001854.4(COL11A1):c.4036C>T (p.Pro1346Ser) rs1233186933 0.00001
NM_001854.4(COL11A1):c.4091C>A (p.Pro1364His) rs746495082 0.00001
NM_001854.4(COL11A1):c.4141-11C>T rs771566681 0.00001
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile) rs780411112 0.00001
NM_001854.4(COL11A1):c.4225C>T (p.Leu1409Phe) rs1435827751 0.00001
NM_001854.4(COL11A1):c.425A>G (p.His142Arg) rs1672171605 0.00001
NM_001854.4(COL11A1):c.4325T>C (p.Leu1442Pro) rs1339382600 0.00001
NM_001854.4(COL11A1):c.4357-11G>A rs759116881 0.00001
NM_001854.4(COL11A1):c.4359A>G (p.Gly1453=) rs573203662 0.00001
NM_001854.4(COL11A1):c.4363C>T (p.Pro1455Ser) rs184965786 0.00001
NM_001854.4(COL11A1):c.437C>T (p.Pro146Leu) rs543199135 0.00001
NM_001854.4(COL11A1):c.4387C>A (p.Pro1463Thr) rs1261468907 0.00001
NM_001854.4(COL11A1):c.4388C>A (p.Pro1463His) rs202194245 0.00001
NM_001854.4(COL11A1):c.4390C>T (p.Pro1464Ser) rs1651475810 0.00001
NM_001854.4(COL11A1):c.4411G>A (p.Gly1471Ser) rs1057522949 0.00001
NM_001854.4(COL11A1):c.4425C>G (p.Leu1475=) rs376841140 0.00001
NM_001854.4(COL11A1):c.442C>G (p.Pro148Ala) rs1322123798 0.00001
NM_001854.4(COL11A1):c.4439G>T (p.Gly1480Val) rs759091446 0.00001
NM_001854.4(COL11A1):c.4452A>G (p.Ala1484=) rs1289745561 0.00001
NM_001854.4(COL11A1):c.4464+14T>C rs762282588 0.00001
NM_001854.4(COL11A1):c.4464+15A>G rs774699566 0.00001
NM_001854.4(COL11A1):c.4518+10A>G rs897560173 0.00001
NM_001854.4(COL11A1):c.4519-15A>G rs764392474 0.00001
NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro) rs1057521422 0.00001
NM_001854.4(COL11A1):c.4545A>G (p.Lys1515=) rs575231157 0.00001
NM_001854.4(COL11A1):c.4554+3A>G rs1325395705 0.00001
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg) rs146997967 0.00001
NM_001854.4(COL11A1):c.4609-8C>A rs777390779 0.00001
NM_001854.4(COL11A1):c.4615C>T (p.Pro1539Ser) rs1374575593 0.00001
NM_001854.4(COL11A1):c.4618G>A (p.Gly1540Ser) rs933062306 0.00001
NM_001854.4(COL11A1):c.4650C>T (p.Ser1550=) rs767709700 0.00001
NM_001854.4(COL11A1):c.4665A>T (p.Arg1555Ser) rs149516921 0.00001
NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=) rs202048103 0.00001
NM_001854.4(COL11A1):c.4679G>A (p.Gly1560Asp) rs1465324011 0.00001
NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr) rs780611200 0.00001
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly) rs756511227 0.00001
NM_001854.4(COL11A1):c.4711G>T (p.Asp1571Tyr) rs1277867710 0.00001
NM_001854.4(COL11A1):c.4717T>C (p.Ser1573Pro) rs865904271 0.00001
NM_001854.4(COL11A1):c.4750A>T (p.Asn1584Tyr) rs1470853407 0.00001
NM_001854.4(COL11A1):c.4767C>T (p.Asp1589=) rs768263147 0.00001
NM_001854.4(COL11A1):c.477C>T (p.Ile159=) rs769155547 0.00001
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) rs146954848 0.00001
NM_001854.4(COL11A1):c.4792G>A (p.Gly1598Ser) rs757388014 0.00001
NM_001854.4(COL11A1):c.4858+15C>T rs1054091121 0.00001
NM_001854.4(COL11A1):c.4859-19A>G rs146179957 0.00001
NM_001854.4(COL11A1):c.4859-3T>C rs774985706 0.00001
NM_001854.4(COL11A1):c.4859-9A>G rs763472511 0.00001
NM_001854.4(COL11A1):c.488+14T>C rs920388545 0.00001
NM_001854.4(COL11A1):c.489-14C>T rs376366228 0.00001
NM_001854.4(COL11A1):c.4894G>A (p.Gly1632Arg) rs1650488322 0.00001
NM_001854.4(COL11A1):c.4897G>A (p.Asp1633Asn) rs1303443553 0.00001
NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp) rs780211105 0.00001
NM_001854.4(COL11A1):c.4971+19T>A rs757107063 0.00001
NM_001854.4(COL11A1):c.4972-15G>T rs774357717 0.00001
NM_001854.4(COL11A1):c.502G>A (p.Ala168Thr) rs150144437 0.00001
NM_001854.4(COL11A1):c.5040+9T>C rs752691314 0.00001
NM_001854.4(COL11A1):c.511G>A (p.Val171Met) rs751182532 0.00001
NM_001854.4(COL11A1):c.512T>C (p.Val171Ala) rs764504302 0.00001
NM_001854.4(COL11A1):c.5304T>C (p.Ile1768=) rs1036630733 0.00001
NM_001854.4(COL11A1):c.534G>C (p.Met178Ile) rs758827956 0.00001
NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg) rs1351190778 0.00001
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) rs925433052 0.00001
NM_001854.4(COL11A1):c.54C>T (p.Thr18=) rs776686564 0.00001
NM_001854.4(COL11A1):c.682G>A (p.Asp228Asn) rs746487895 0.00001
NM_001854.4(COL11A1):c.687C>G (p.Pro229=) rs746387208 0.00001
NM_001854.4(COL11A1):c.747G>A (p.Lys249=) rs1199504042 0.00001
NM_001854.4(COL11A1):c.765A>G (p.Glu255=) rs746077929 0.00001
NM_001854.4(COL11A1):c.777T>C (p.Asp259=) rs1010215837 0.00001
NM_001854.4(COL11A1):c.782A>G (p.Tyr261Cys) rs1204523782 0.00001
NM_001854.4(COL11A1):c.792G>A (p.Glu264=) rs755887906 0.00001
NM_001854.4(COL11A1):c.801C>T (p.Ile267=) rs780965578 0.00001
NM_001854.4(COL11A1):c.840G>A (p.Glu280=) rs777095769 0.00001
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr) rs748315186 0.00001
NM_001854.4(COL11A1):c.871A>G (p.Thr291Ala) rs778869762 0.00001
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652 0.00001
NM_001854.4(COL11A1):c.897+269G>T rs748058577 0.00001
NM_001854.4(COL11A1):c.898-195G>A rs774299581 0.00001
NM_001854.4(COL11A1):c.898-217A>C rs763456639 0.00001
NM_001854.4(COL11A1):c.898-263C>T rs559331475 0.00001
NM_001854.4(COL11A1):c.898-276A>C rs779058882 0.00001
NM_001854.4(COL11A1):c.924A>G (p.Glu308=) rs1010235940 0.00001
NM_001854.4(COL11A1):c.933T>C (p.Tyr311=) rs762903488 0.00001
NM_001854.4(COL11A1):c.947G>A (p.Ser316Asn) rs765019834 0.00001
NM_001854.4(COL11A1):c.973G>T (p.Val325Phe) rs746633493 0.00001
NM_001854.4(COL11A1):c.97G>A (p.Val33Ile) rs755307749 0.00001
NM_001854.4(COL11A1):c.990+8G>A rs756299328 0.00001
NM_001854.4(COL11A1):c.992C>T (p.Pro331Leu) rs148978696 0.00001
GRCh37/hg19 1p21.1(chr1:103025918-103439485)x1
GRCh37/hg19 1p21.1(chr1:103155605-103510258)x3
GRCh37/hg19 1p21.1(chr1:103230040-103510097)x3
GRCh37/hg19 1p21.1(chr1:103277571-103510258)x3
GRCh37/hg19 1p21.1(chr1:103277571-103548497)x3
GRCh37/hg19 1p21.1(chr1:103328723-103384168)x3
GRCh37/hg19 1p21.1(chr1:103328723-103391806)x3
GRCh37/hg19 1p21.1(chr1:103328723-103498007)x3
GRCh37/hg19 1p21.1(chr1:103328723-103548505)x3
GRCh37/hg19 1p21.1(chr1:103328723-103548782)x3
GRCh37/hg19 1p21.1(chr1:103328723-103569945)x3
GRCh37/hg19 1p21.1(chr1:103342392-103391715)x3
GRCh37/hg19 1p21.1(chr1:103342392-103497583)x3
GRCh37/hg19 1p21.1(chr1:103342392-103497951)x3
GRCh37/hg19 1p21.1(chr1:103342392-103507254)x3
GRCh37/hg19 1p21.1(chr1:103342392-103507742)x3
GRCh37/hg19 1p21.1(chr1:103342392-103508817)x3
GRCh37/hg19 1p21.1(chr1:103342392-103510258)x3
GRCh37/hg19 1p21.1(chr1:103342392-103510756)x3
GRCh37/hg19 1p21.1(chr1:103342392-103548505)x3
GRCh37/hg19 1p21.1(chr1:103342392-103548782)x3
GRCh37/hg19 1p21.1(chr1:103343421-103482614)x3
GRCh37/hg19 1p21.1(chr1:103343421-103510258)x3
GRCh37/hg19 1p21.1(chr1:103343583-103510097)x3
GRCh37/hg19 1p21.1(chr1:103343583-103510258)x3
GRCh37/hg19 1p21.1(chr1:103343583-103548497)x3
GRCh37/hg19 1p21.1(chr1:103346245-103482614)x3
GRCh37/hg19 1p21.1(chr1:103346245-103550401)x3
GRCh37/hg19 1p21.1(chr1:103350881-103548497)x3
GRCh37/hg19 1p21.1(chr1:103351323-103375747)x3
GRCh37/hg19 1p21.1(chr1:103351323-103510097)x1
GRCh37/hg19 1p21.1(chr1:103351323-103539196)x3
GRCh37/hg19 1p21.1(chr1:103351323-103548497)x3
GRCh37/hg19 1p21.1(chr1:103351323-103567908)x3
GRCh37/hg19 1p21.1(chr1:103353792-103391621)x3
GRCh37/hg19 1p21.1(chr1:103487914-103519592)x1
GRCh37/hg19 1p21.1(chr1:103487914-103601156)x3
GRCh37/hg19 1p21.1(chr1:103517472-103548497)x3
GRCh37/hg19 1p21.1(chr1:103517755-103539196)x3
GRCh37/hg19 1p21.1(chr1:103530782-103539196)x4
GRCh37/hg19 1p21.1(chr1:103530782-103548497)x3
GRCh37/hg19 1p21.1(chr1:103530782-103548782)x3
GRCh37/hg19 1p21.1(chr1:103530782-103550401)x3
NC_000001.10:g.(?_103343575)_(103573734_?)del
NC_000001.10:g.(?_103345219)_(103348887_?)del
NC_000001.10:g.(?_103345219)_(103356080_?)del
NC_000001.10:g.(?_103364202)_(103364570_?)dup
NC_000001.10:g.(?_103377695)_(103381260_?)del
NC_000001.10:g.(?_103377695)_(103412532_?)del
NC_000001.10:g.(?_103380260)_(103548528_?)del
NC_000001.10:g.(?_103388872)_(103388965_?)del
NC_000001.10:g.(?_103404571)_(103404664_?)del
NC_000001.10:g.(?_103412385)_(103449767_?)del
NC_000001.10:g.(?_103427402)_(103573734_?)del
NC_000001.10:g.(?_103431023)_(103431116_?)del
NC_000001.10:g.(?_103469980)_(103470237_?)dup
NC_000001.10:g.(?_103471374)_(103471891_?)dup
NC_000001.10:g.(?_103473999)_(103480170_?)del
NC_000001.10:g.(?_103473999)_(103496820_?)del
NC_000001.10:g.(?_103487243)_(103496820_?)del
NC_000001.10:g.(?_103491752)_(103491908_?)del
NC_000001.10:g.(?_103540154)_(103540356_?)dup
NC_000001.10:g.(?_103544194)_(103573734_?)dup
NM_001854.4(COL11A1):c.1011A>T (p.Ile337=) rs563115409
NM_001854.4(COL11A1):c.1027C>T (p.Leu343=)
NM_001854.4(COL11A1):c.1029A>G (p.Leu343=)
NM_001854.4(COL11A1):c.1030A>G (p.Thr344Ala)
NM_001854.4(COL11A1):c.1043A>G (p.Tyr348Cys)
NM_001854.4(COL11A1):c.1045G>T (p.Asp349Tyr)
NM_001854.4(COL11A1):c.1057A>G (p.Lys353Glu) rs2101946256
NM_001854.4(COL11A1):c.106+12T>C
NM_001854.4(COL11A1):c.106+17T>A rs2102452869
NM_001854.4(COL11A1):c.106+98_106+99dup rs573192714
NM_001854.4(COL11A1):c.106+98dup rs573192714
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro) rs141036911
NM_001854.4(COL11A1):c.1063T>G (p.Ser355Ala) rs141036911
NM_001854.4(COL11A1):c.1068G>A (p.Glu356=)
NM_001854.4(COL11A1):c.107-17G>T
NM_001854.4(COL11A1):c.107-20A>C
NM_001854.4(COL11A1):c.107-27G>T rs116458923
NM_001854.4(COL11A1):c.107-294CA[11] rs76992260
NM_001854.4(COL11A1):c.107-294CA[12] rs76992260
NM_001854.4(COL11A1):c.107-295_107-294del rs1491159319
NM_001854.4(COL11A1):c.1070A>T (p.Asp357Val)
NM_001854.4(COL11A1):c.1072A>G (p.Thr358Ala)
NM_001854.4(COL11A1):c.1078T>C (p.Tyr360His)
NM_001854.4(COL11A1):c.1081G>A (p.Glu361Lys)
NM_001854.4(COL11A1):c.1087A>G (p.Lys363Glu)
NM_001854.4(COL11A1):c.10T>C (p.Trp4Arg)
NM_001854.4(COL11A1):c.110C>T (p.Ala37Val)
NM_001854.4(COL11A1):c.1112A>G (p.Asp371Gly)
NM_001854.4(COL11A1):c.112C>T (p.Pro38Ser)
NM_001854.4(COL11A1):c.113C>T (p.Pro38Leu)
NM_001854.4(COL11A1):c.1140A>G (p.Glu380=)
NM_001854.4(COL11A1):c.1144G>A (p.Asp382Asn) rs1667210381
NM_001854.4(COL11A1):c.1154A>C (p.Glu385Ala) rs2101945641
NM_001854.4(COL11A1):c.1155A>C (p.Glu385Asp) rs1057524404
NM_001854.4(COL11A1):c.1157A>G (p.Tyr386Cys)
NM_001854.4(COL11A1):c.1162G>T (p.Glu388Ter)
NM_001854.4(COL11A1):c.1167T>C (p.Tyr389=) rs1211693844
NM_001854.4(COL11A1):c.116T>C (p.Val39Ala)
NM_001854.4(COL11A1):c.1176A>G (p.Lys392=)
NM_001854.4(COL11A1):c.1189C>G (p.Pro397Ala)
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer) rs1343199316
NM_001854.4(COL11A1):c.1191T>C (p.Pro397=)
NM_001854.4(COL11A1):c.1191del (p.Asn398fs)
NM_001854.4(COL11A1):c.1194T>A (p.Asn398Lys) rs1245661989
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156
NM_001854.4(COL11A1):c.120T>C (p.Asp40=)
NM_001854.4(COL11A1):c.1213G>T (p.Val405Leu)
NM_001854.4(COL11A1):c.121G>A (p.Val41Ile)
NM_001854.4(COL11A1):c.1224A>C (p.Glu408Asp)
NM_001854.4(COL11A1):c.1231A>G (p.Ile411Val)
NM_001854.4(COL11A1):c.1232T>C (p.Ile411Thr)
NM_001854.4(COL11A1):c.1239A>C (p.Glu413Asp)
NM_001854.4(COL11A1):c.1240A>G (p.Thr414Ala)
NM_001854.4(COL11A1):c.1245+11dup rs2101944799
NM_001854.4(COL11A1):c.1245+19C>T
NM_001854.4(COL11A1):c.1245+3A>C rs1295102743
NM_001854.4(COL11A1):c.1245C>A (p.Ser415Arg) rs371490794
NM_001854.4(COL11A1):c.1246-19T>C
NM_001854.4(COL11A1):c.1246-258_1246-253dup rs11381607
NM_001854.4(COL11A1):c.1246-258_1246-254dup rs11381607
NM_001854.4(COL11A1):c.1246-258_1246-255dup rs11381607
NM_001854.4(COL11A1):c.1246-258_1246-256dup rs11381607
NM_001854.4(COL11A1):c.1246-258_1246-257dup rs11381607
NM_001854.4(COL11A1):c.1246-258dup rs11381607
NM_001854.4(COL11A1):c.1246-6C>A rs199855455
NM_001854.4(COL11A1):c.1246-70del rs35291481
NM_001854.4(COL11A1):c.1246-8T>C
NM_001854.4(COL11A1):c.1246-9A>C rs375455188
NM_001854.4(COL11A1):c.1246-9A>G
NM_001854.4(COL11A1):c.1246A>G (p.Ile416Val) rs1667095674
NM_001854.4(COL11A1):c.1253G>A (p.Gly418Asp)
NM_001854.4(COL11A1):c.1256A>G (p.His419Arg)
NM_001854.4(COL11A1):c.1258G>A (p.Gly420Ser) rs2101938369
NM_001854.4(COL11A1):c.125T>C (p.Leu42Pro)
NM_001854.4(COL11A1):c.1261G>A (p.Ala421Thr) rs763208504
NM_001854.4(COL11A1):c.1262C>A (p.Ala421Glu) rs775644641
NM_001854.4(COL11A1):c.1263A>C (p.Ala421=)
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=) rs760330151
NM_001854.4(COL11A1):c.1263A>T (p.Ala421=)
NM_001854.4(COL11A1):c.1275A>G (p.Lys425=)
NM_001854.4(COL11A1):c.1285G>C (p.Gly429Arg) rs2101938209
NM_001854.4(COL11A1):c.129A>G (p.Lys43=)
NM_001854.4(COL11A1):c.1301T>C (p.Val434Ala)
NM_001854.4(COL11A1):c.1308+16A>G
NM_001854.4(COL11A1):c.1308+20C>A rs750685039
NM_001854.4(COL11A1):c.1309-11del
NM_001854.4(COL11A1):c.1309-14T>C
NM_001854.4(COL11A1):c.1309-15C>A
NM_001854.4(COL11A1):c.1309-4A>T
NM_001854.4(COL11A1):c.1309G>A (p.Gly437Ser)
NM_001854.4(COL11A1):c.1313T>C (p.Met438Thr)
NM_001854.4(COL11A1):c.1324G>A (p.Gly442Arg)
NM_001854.4(COL11A1):c.1337C>T (p.Pro446Leu)
NM_001854.4(COL11A1):c.1338_1346del (p.446PAG[1])
NM_001854.4(COL11A1):c.133C>G (p.Leu45Val)
NM_001854.4(COL11A1):c.1343_1350+1dup rs1417844465
NM_001854.4(COL11A1):c.1345C>A (p.Pro449Thr) rs1262054654
NM_001854.4(COL11A1):c.1349C>A (p.Ala450Glu)
NM_001854.4(COL11A1):c.1350+12T>G
NM_001854.4(COL11A1):c.1350+19del
NM_001854.4(COL11A1):c.1350+1G>A rs2101919778
NM_001854.4(COL11A1):c.1351-169del rs141009352
NM_001854.4(COL11A1):c.1351-16G>T rs758784824
NM_001854.4(COL11A1):c.1351-17G>A rs375605297
NM_001854.4(COL11A1):c.1351-17G>C rs375605297
NM_001854.4(COL11A1):c.1351-19_1351-17del
NM_001854.4(COL11A1):c.1351-3T>A rs1296607621
NM_001854.4(COL11A1):c.1351-3T>C
NM_001854.4(COL11A1):c.1358T>C (p.Met453Thr)
NM_001854.4(COL11A1):c.1359G>C (p.Met453Ile)
NM_001854.4(COL11A1):c.1360G>T (p.Gly454Cys) rs2101915053
NM_001854.4(COL11A1):c.1363C>T (p.Pro455Ser)
NM_001854.4(COL11A1):c.1367C>T (p.Pro456Leu) rs754099465
NM_001854.4(COL11A1):c.1370G>A (p.Gly457Asp)
NM_001854.4(COL11A1):c.1371T>G (p.Gly457=)
NM_001854.4(COL11A1):c.1374A>G (p.Leu458=)
NM_001854.4(COL11A1):c.1379G>T (p.Gly460Val)
NM_001854.4(COL11A1):c.1380C>T (p.Gly460=)
NM_001854.4(COL11A1):c.1382C>T (p.Pro461Leu)
NM_001854.4(COL11A1):c.1385C>G (p.Thr462Ser)
NM_001854.4(COL11A1):c.1388G>A (p.Gly463Glu) rs1475867666
NM_001854.4(COL11A1):c.1388G>T (p.Gly463Val)
NM_001854.4(COL11A1):c.1398T>C (p.Gly466=) rs2101914853
NM_001854.4(COL11A1):c.1407C>T (p.Gly469=)
NM_001854.4(COL11A1):c.1408G>A (p.Asp470Asn)
NM_001854.4(COL11A1):c.1409A>T (p.Asp470Val)
NM_001854.4(COL11A1):c.1411A>C (p.Arg471=) rs1342033027
NM_001854.4(COL11A1):c.1412G>C (p.Arg471Thr) rs2101914738
NM_001854.4(COL11A1):c.1413+12G>A
NM_001854.4(COL11A1):c.1413+14C>G rs2101914671
NM_001854.4(COL11A1):c.1413+15A>G rs770531544
NM_001854.4(COL11A1):c.1413+17_1413+19del
NM_001854.4(COL11A1):c.1413+3A>G
NM_001854.4(COL11A1):c.1413+6T>G
NM_001854.4(COL11A1):c.1414-5T>C rs2101905101
NM_001854.4(COL11A1):c.1417C>A (p.Pro473Thr) rs1180040869
NM_001854.4(COL11A1):c.1418C>T (p.Pro473Leu)
NM_001854.4(COL11A1):c.1421C>T (p.Pro474Leu) rs2101905008
NM_001854.4(COL11A1):c.1426C>A (p.Arg476Ser) rs756352775
NM_001854.4(COL11A1):c.1431T>G (p.Pro477=)
NM_001854.4(COL11A1):c.1438C>T (p.Pro480Ser)
NM_001854.4(COL11A1):c.1440A>C (p.Pro480=)
NM_001854.4(COL11A1):c.1443G>A (p.Gly481=)
NM_001854.4(COL11A1):c.1444G>T (p.Ala482Ser)
NM_001854.4(COL11A1):c.1449T>A (p.Asp483Glu)
NM_001854.4(COL11A1):c.1453C>A (p.Leu485Ile) rs536428525
NM_001854.4(COL11A1):c.1477T>A (p.Leu493Met)
NM_001854.4(COL11A1):c.1479G>A (p.Leu493=) rs2101904743
NM_001854.4(COL11A1):c.1479G>T (p.Leu493Phe)
NM_001854.4(COL11A1):c.1483T>A (p.Leu495Ile)
NM_001854.4(COL11A1):c.1486C>A (p.Pro496Thr)
NM_001854.4(COL11A1):c.1488+10T>G rs2101904606
NM_001854.4(COL11A1):c.1488+20A>T
NM_001854.4(COL11A1):c.1488+5G>A
NM_001854.4(COL11A1):c.1488+6T>C rs1571042150
NM_001854.4(COL11A1):c.1488+8C>A
NM_001854.4(COL11A1):c.1489-11T>C
NM_001854.4(COL11A1):c.1489-13T>G rs1666409911
NM_001854.4(COL11A1):c.1491C>G (p.Phe497Leu) rs755704308
NM_001854.4(COL11A1):c.1497T>C (p.Tyr499=)
NM_001854.4(COL11A1):c.1503T>C (p.Gly501=)
NM_001854.4(COL11A1):c.1511C>T (p.Ser504Phe)
NM_001854.4(COL11A1):c.1512C>T (p.Ser504=) rs774727660
NM_001854.4(COL11A1):c.1514A>G (p.Lys505Arg)
NM_001854.4(COL11A1):c.1515A>G (p.Lys505=) rs2101899581
NM_001854.4(COL11A1):c.151C>T (p.Pro51Ser)
NM_001854.4(COL11A1):c.1527C>G (p.Ile509Met)
NM_001854.4(COL11A1):c.1537G>C (p.Glu513Gln) rs1288240581
NM_001854.4(COL11A1):c.1544A>G (p.Gln515Arg) rs1666402093
NM_001854.4(COL11A1):c.1545G>T (p.Gln515His)
NM_001854.4(COL11A1):c.1548T>G (p.Ala516=)
NM_001854.4(COL11A1):c.1550A>C (p.Gln517Pro) rs2101899405
NM_001854.4(COL11A1):c.1553C>T (p.Ala518Val)
NM_001854.4(COL11A1):c.1562A>G (p.Gln521Arg) rs770438816
NM_001854.4(COL11A1):c.1567G>T (p.Ala523Ser)
NM_001854.4(COL11A1):c.156G>A (p.Glu52=)
NM_001854.4(COL11A1):c.1570C>T (p.Arg524Trp)
NM_001854.4(COL11A1):c.1572+13A>T rs1215755446
NM_001854.4(COL11A1):c.1572+1G>C rs2101899230
NM_001854.4(COL11A1):c.1573-14A>G rs2101890814
NM_001854.4(COL11A1):c.1573-15T>C rs772291375
NM_001854.4(COL11A1):c.1573-16A>C rs1666213365
NM_001854.4(COL11A1):c.1573-1G>T rs2101890748
NM_001854.4(COL11A1):c.1573-204_1573-203del rs557530220
NM_001854.4(COL11A1):c.1573-3T>C
NM_001854.4(COL11A1):c.1573-9G>A
NM_001854.4(COL11A1):c.1576G>T (p.Ala526Ser)
NM_001854.4(COL11A1):c.1581G>C (p.Leu527=)
NM_001854.4(COL11A1):c.1594G>T (p.Gly532Cys)
NM_001854.4(COL11A1):c.1599A>C (p.Pro533=)
NM_001854.4(COL11A1):c.1599A>G (p.Pro533=)
NM_001854.4(COL11A1):c.1609A>G (p.Thr537Ala)
NM_001854.4(COL11A1):c.1609A>T (p.Thr537Ser)
NM_001854.4(COL11A1):c.1611T>C (p.Thr537=)
NM_001854.4(COL11A1):c.1612G>A (p.Gly538Arg) rs2101890546
NM_001854.4(COL11A1):c.1622G>A (p.Gly541Asp)
NM_001854.4(COL11A1):c.1623T>C (p.Gly541=)
NM_001854.4(COL11A1):c.1628T>C (p.Val543Ala)
NM_001854.4(COL11A1):c.1629+12C>A
NM_001854.4(COL11A1):c.1629+137dup rs35117641
NM_001854.4(COL11A1):c.1629+13A>G rs889072485
NM_001854.4(COL11A1):c.1629+1G>A rs1553234339
NM_001854.4(COL11A1):c.1629+2T>C rs2101890460
NM_001854.4(COL11A1):c.162A>T (p.Ile54=)
NM_001854.4(COL11A1):c.162del (p.Ser55fs) rs1571238944
NM_001854.4(COL11A1):c.1630-14C>T
NM_001854.4(COL11A1):c.1630-16C>T rs148114270
NM_001854.4(COL11A1):c.1630-1G>C rs2101869722
NM_001854.4(COL11A1):c.1630-1G>T
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1630-9T>C
NM_001854.4(COL11A1):c.1633G>T (p.Gly545Trp)
NM_001854.4(COL11A1):c.1634G>C (p.Gly545Ala)
NM_001854.4(COL11A1):c.1635G>C (p.Gly545=)
NM_001854.4(COL11A1):c.1635G>T (p.Gly545=)
NM_001854.4(COL11A1):c.1636C>A (p.Pro546Thr)
NM_001854.4(COL11A1):c.1636C>T (p.Pro546Ser)
NM_001854.4(COL11A1):c.1637C>A (p.Pro546His)
NM_001854.4(COL11A1):c.1642T>A (p.Ser548Thr)
NM_001854.4(COL11A1):c.1646C>T (p.Ser549Phe)
NM_001854.4(COL11A1):c.1657G>T (p.Gly553Cys) rs2101869508
NM_001854.4(COL11A1):c.1663A>C (p.Ser555Arg)
NM_001854.4(COL11A1):c.1675G>A (p.Gly559Ser)
NM_001854.4(COL11A1):c.1678C>G (p.Pro560Ala)
NM_001854.4(COL11A1):c.1682A>C (p.Gln561Pro)
NM_001854.4(COL11A1):c.1683+13A>C rs2101869216
NM_001854.4(COL11A1):c.1683+15T>G
NM_001854.4(COL11A1):c.1683+16T>G
NM_001854.4(COL11A1):c.1683+3A>G rs2101869327
NM_001854.4(COL11A1):c.1683+84dup rs79750249
NM_001854.4(COL11A1):c.1683+8dup
NM_001854.4(COL11A1):c.1683G>T (p.Gln561His) rs2101869336
NM_001854.4(COL11A1):c.1684-15G>A rs1665610425
NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp) rs886039743
NM_001854.4(COL11A1):c.1687C>T (p.Pro563Ser)
NM_001854.4(COL11A1):c.1688C>A (p.Pro563His) rs2101854756
NM_001854.4(COL11A1):c.1688C>T (p.Pro563Leu) rs2101854756
NM_001854.4(COL11A1):c.168AAC[1] (p.Thr58del) rs1553253791
NM_001854.4(COL11A1):c.1694G>T (p.Gly565Val) rs2101854719
NM_001854.4(COL11A1):c.1695C>T (p.Gly565=)
NM_001854.4(COL11A1):c.1696G>A (p.Val566Ile)
NM_001854.4(COL11A1):c.1701G>T (p.Gln567His)
NM_001854.4(COL11A1):c.1703G>A (p.Gly568Asp) rs1665608144
NM_001854.4(COL11A1):c.1716A>G (p.Pro572=)
NM_001854.4(COL11A1):c.1718C>G (p.Thr573Arg)
NM_001854.4(COL11A1):c.1718C>T (p.Thr573Met) rs202011565
NM_001854.4(COL11A1):c.1724A>G (p.Lys575Arg)
NM_001854.4(COL11A1):c.1727C>G (p.Pro576Arg)
NM_001854.4(COL11A1):c.1731A>T (p.Gly577=) rs768140429
NM_001854.4(COL11A1):c.1736G>C (p.Arg579Thr) rs1557935355
NM_001854.4(COL11A1):c.1737+10A>G
NM_001854.4(COL11A1):c.1737+15C>G rs1665603331
NM_001854.4(COL11A1):c.1737+16A>G
NM_001854.4(COL11A1):c.1737+2T>G
NM_001854.4(COL11A1):c.1737+3A>T
NM_001854.4(COL11A1):c.1737+56ATTT[10] rs59259783
NM_001854.4(COL11A1):c.1737+56ATTT[11] rs59259783
NM_001854.4(COL11A1):c.1737+56ATTT[5] rs59259783
NM_001854.4(COL11A1):c.1737+56ATTT[8] rs59259783
NM_001854.4(COL11A1):c.1737+56ATTT[9] rs59259783
NM_001854.4(COL11A1):c.1737+7C>A
NM_001854.4(COL11A1):c.1738-14G>C
NM_001854.4(COL11A1):c.1738G>C (p.Gly580Arg) rs2101852919
NM_001854.4(COL11A1):c.1739G>A (p.Gly580Asp)
NM_001854.4(COL11A1):c.173C>A (p.Thr58Lys) rs770162224
NM_001854.4(COL11A1):c.1742G>T (p.Arg581Leu) rs769449348
NM_001854.4(COL11A1):c.1744C>G (p.Pro582Ala)
NM_001854.4(COL11A1):c.1745C>T (p.Pro582Leu)
NM_001854.4(COL11A1):c.1749T>C (p.Gly583=)
NM_001854.4(COL11A1):c.174G>A (p.Thr58=) rs530441485
NM_001854.4(COL11A1):c.1758A>T (p.Gly586=)
NM_001854.4(COL11A1):c.175G>A (p.Gly59Arg)
NM_001854.4(COL11A1):c.1760G>A (p.Gly587Glu) rs2101852715
NM_001854.4(COL11A1):c.1773A>G (p.Pro591=) rs1571009440
NM_001854.4(COL11A1):c.1778A>C (p.Glu593Ala)
NM_001854.4(COL11A1):c.1786G>T (p.Ala596Ser) rs758567291
NM_001854.4(COL11A1):c.1791+13C>T
NM_001854.4(COL11A1):c.1791+18T>C
NM_001854.4(COL11A1):c.1791+1G>T rs2101852537
NM_001854.4(COL11A1):c.1791+1del
NM_001854.4(COL11A1):c.1791+3C>A
NM_001854.4(COL11A1):c.1791+4A>G
NM_001854.4(COL11A1):c.1792-10_1792-8del rs2101851346
NM_001854.4(COL11A1):c.1792-13G>T
NM_001854.4(COL11A1):c.1792-15A>G
NM_001854.4(COL11A1):c.1792-19G>C rs2101851511
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[13] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[14]
NM_001854.4(COL11A1):c.1792-39ATG[4]
NM_001854.4(COL11A1):c.1792-39ATG[5] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[6] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[7] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[8] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.1794A>T (p.Gly598=)
NM_001854.4(COL11A1):c.179T>G (p.Phe60Cys)
NM_001854.4(COL11A1):c.1808A>G (p.Asp603Gly)
NM_001854.4(COL11A1):c.1822C>T (p.Leu608=) rs1571008380
NM_001854.4(COL11A1):c.1831G>A (p.Asp611Asn)
NM_001854.4(COL11A1):c.1845+11T>A
NM_001854.4(COL11A1):c.1845+14A>G rs369345126
NM_001854.4(COL11A1):c.1845+19T>C
NM_001854.4(COL11A1):c.1845+19T>G
NM_001854.4(COL11A1):c.1845+3A>T rs2101850931
NM_001854.4(COL11A1):c.1846-11T>G
NM_001854.4(COL11A1):c.1846-15G>T rs2101844092
NM_001854.4(COL11A1):c.1846-20T>C
NM_001854.4(COL11A1):c.1846-258_1846-255del rs147077472
NM_001854.4(COL11A1):c.1846-5A>G
NM_001854.4(COL11A1):c.1846G>A (p.Gly616Ser)
NM_001854.4(COL11A1):c.1852C>T (p.Arg618Ter) rs1469521034
NM_001854.4(COL11A1):c.1856G>A (p.Gly619Asp)
NM_001854.4(COL11A1):c.185C>G (p.Thr62Arg)
NM_001854.4(COL11A1):c.185C>T (p.Thr62Ile)
NM_001854.4(COL11A1):c.1871C>T (p.Pro624Leu)
NM_001854.4(COL11A1):c.1879C>G (p.Pro627Ala)
NM_001854.4(COL11A1):c.1881T>C (p.Pro627=)
NM_001854.4(COL11A1):c.1887T>C (p.Asp629=)
NM_001854.4(COL11A1):c.1889A>T (p.Asp630Val)
NM_001854.4(COL11A1):c.1894A>G (p.Met632Val) rs2101843713
NM_001854.4(COL11A1):c.1894A>T (p.Met632Leu)
NM_001854.4(COL11A1):c.1899+12C>T
NM_001854.4(COL11A1):c.1899+15C>A
NM_001854.4(COL11A1):c.1899+15C>T
NM_001854.4(COL11A1):c.1899+4T>C
NM_001854.4(COL11A1):c.1899+4T>G
NM_001854.4(COL11A1):c.1899G>A (p.Arg633=)
NM_001854.4(COL11A1):c.1900-11G>A rs747685749
NM_001854.4(COL11A1):c.1900-17C>A
NM_001854.4(COL11A1):c.1900-1G>A
NM_001854.4(COL11A1):c.1900-2A>G
NM_001854.4(COL11A1):c.1900-3C>T
NM_001854.4(COL11A1):c.1900-3_1900-2del
NM_001854.4(COL11A1):c.1900-9C>T
NM_001854.4(COL11A1):c.1900G>A (p.Gly634Arg) rs2101842703
NM_001854.4(COL11A1):c.1908T>C (p.Asp636=)
NM_001854.4(COL11A1):c.1913A>T (p.Glu638Val)
NM_001854.4(COL11A1):c.1922C>G (p.Pro641Arg)
NM_001854.4(COL11A1):c.1925G>C (p.Arg642Thr) rs1665409366
NM_001854.4(COL11A1):c.1926A>T (p.Arg642Ser)
NM_001854.4(COL11A1):c.1928G>T (p.Gly643Val) rs1427555518
NM_001854.4(COL11A1):c.1944+14T>A
NM_001854.4(COL11A1):c.1944+20_1944+25del rs1247011728
NM_001854.4(COL11A1):c.1945-11T>C rs1665299209
NM_001854.4(COL11A1):c.1945-14T>C
NM_001854.4(COL11A1):c.1945-18T>C
NM_001854.4(COL11A1):c.1945-19C>T rs1571000550
NM_001854.4(COL11A1):c.1945-296G>T rs116296541
NM_001854.4(COL11A1):c.1945-2A>G
NM_001854.4(COL11A1):c.1945-33_1945-32del rs370445089
NM_001854.4(COL11A1):c.1945-3T>A
NM_001854.4(COL11A1):c.1945-43dup rs370445089
NM_001854.4(COL11A1):c.1945-4C>G rs369850252
NM_001854.4(COL11A1):c.1945-7C>A rs201424786
NM_001854.4(COL11A1):c.1945-7C>T rs201424786
NM_001854.4(COL11A1):c.1946G>A (p.Gly649Asp)
NM_001854.4(COL11A1):c.1947C>T (p.Gly649=) rs1390854803
NM_001854.4(COL11A1):c.1948C>T (p.Pro650Ser)
NM_001854.4(COL11A1):c.1949C>A (p.Pro650Gln)
NM_001854.4(COL11A1):c.194_197del (p.Lys65fs) rs2102324115
NM_001854.4(COL11A1):c.1952G>A (p.Arg651Gln)
NM_001854.4(COL11A1):c.1952G>C (p.Arg651Pro)
NM_001854.4(COL11A1):c.195G>A (p.Lys65=)
NM_001854.4(COL11A1):c.195G>T (p.Lys65Asn)
NM_001854.4(COL11A1):c.1961T>C (p.Leu654Pro) rs1131691449
NM_001854.4(COL11A1):c.1964G>C (p.Gly655Ala)
NM_001854.4(COL11A1):c.1968A>G (p.Pro656=) rs1571000308
NM_001854.4(COL11A1):c.1973G>A (p.Gly658Glu) rs1201613198
NM_001854.4(COL11A1):c.1988C>T (p.Pro663Leu) rs1377533345
NM_001854.4(COL11A1):c.198T>C (p.Asn66=) rs777941684
NM_001854.4(COL11A1):c.1991G>C (p.Gly664Ala)
NM_001854.4(COL11A1):c.1998+4T>G
NM_001854.4(COL11A1):c.1998+4_1998+5delinsAT rs2101835613
NM_001854.4(COL11A1):c.1999-19T>C
NM_001854.4(COL11A1):c.1999-9T>C
NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr) rs767790003
NM_001854.4(COL11A1):c.2004G>A (p.Met668Ile)
NM_001854.4(COL11A1):c.2009G>C (p.Gly670Ala) rs2101833015
NM_001854.4(COL11A1):c.2011G>A (p.Val671Ile)
NM_001854.4(COL11A1):c.2011G>T (p.Val671Leu) rs201602988
NM_001854.4(COL11A1):c.2019C>T (p.Gly673=) rs770998941
NM_001854.4(COL11A1):c.2022C>T (p.Pro674=) rs747879227
NM_001854.4(COL11A1):c.2023C>T (p.Pro675Ser)
NM_001854.4(COL11A1):c.2024C>T (p.Pro675Leu) rs2101832656
NM_001854.4(COL11A1):c.2024del (p.Pro675fs)
NM_001854.4(COL11A1):c.2038A>C (p.Asn680His)
NM_001854.4(COL11A1):c.203A>G (p.Lys68Arg)
NM_001854.4(COL11A1):c.2040C>A (p.Asn680Lys)
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=) rs530187653
NM_001854.4(COL11A1):c.2043+12A>T
NM_001854.4(COL11A1):c.2043+4T>A rs764236870
NM_001854.4(COL11A1):c.2043+5G>A
NM_001854.4(COL11A1):c.2043+9C>T
NM_001854.4(COL11A1):c.2044-11T>G
NM_001854.4(COL11A1):c.2044-19T>G rs778017851
NM_001854.4(COL11A1):c.2044-5G>A
NM_001854.4(COL11A1):c.2044-5G>C rs2101831010
NM_001854.4(COL11A1):c.2044-9C>T
NM_001854.4(COL11A1):c.204A>G (p.Lys68=)
NM_001854.4(COL11A1):c.2055G>C (p.Gly685=)
NM_001854.4(COL11A1):c.2060C>T (p.Pro687Leu)
NM_001854.4(COL11A1):c.2063G>C (p.Gly688Ala)
NM_001854.4(COL11A1):c.206G>A (p.Gly69Asp)
NM_001854.4(COL11A1):c.206G>T (p.Gly69Val)
NM_001854.4(COL11A1):c.2070A>G (p.Pro690=)
NM_001854.4(COL11A1):c.2074C>A (p.Gln692Lys)
NM_001854.4(COL11A1):c.207C>G (p.Gly69=)
NM_001854.4(COL11A1):c.207C>T (p.Gly69=)
NM_001854.4(COL11A1):c.2087C>T (p.Pro696Leu)
NM_001854.4(COL11A1):c.2097+7C>A
NM_001854.4(COL11A1):c.2097G>C (p.Gln699His) rs775800593
NM_001854.4(COL11A1):c.2098-11T>C
NM_001854.4(COL11A1):c.2098-12C>A
NM_001854.4(COL11A1):c.2098-18T>C rs2101827894
NM_001854.4(COL11A1):c.2098-2A>C
NM_001854.4(COL11A1):c.2098-4A>G rs759906097
NM_001854.4(COL11A1):c.2098-4dup rs764570124
NM_001854.4(COL11A1):c.2098-6A>C rs1557928458
NM_001854.4(COL11A1):c.209C>T (p.Ser70Leu) rs990402514
NM_001854.4(COL11A1):c.2104C>T (p.Pro702Ser)
NM_001854.4(COL11A1):c.2110C>T (p.Pro704Ser)
NM_001854.4(COL11A1):c.2122A>G (p.Ile708Val)
NM_001854.4(COL11A1):c.2131C>T (p.Pro711Ser) rs1665145505
NM_001854.4(COL11A1):c.2132C>T (p.Pro711Leu) rs2101827358
NM_001854.4(COL11A1):c.2142+10T>C
NM_001854.4(COL11A1):c.2142+16_2142+18del rs762103607
NM_001854.4(COL11A1):c.2142+2T>C
NM_001854.4(COL11A1):c.2142+368T>C
NM_001854.4(COL11A1):c.2142+734A>G
NM_001854.4(COL11A1):c.2142+744C>T
NM_001854.4(COL11A1):c.2143-10del rs747240373
NM_001854.4(COL11A1):c.2143-10dup rs747240373
NM_001854.4(COL11A1):c.2143-20A>T
NM_001854.4(COL11A1):c.2143-20del rs1389430938
NM_001854.4(COL11A1):c.2143-263del rs71592254
NM_001854.4(COL11A1):c.2143-3A>G rs1664822204
NM_001854.4(COL11A1):c.2143-5A>C rs749510866
NM_001854.4(COL11A1):c.2143-6T>C rs768898296
NM_001854.4(COL11A1):c.2149C>T (p.Gln717Ter)
NM_001854.4(COL11A1):c.2154A>G (p.Gly718=) rs1490591478
NM_001854.4(COL11A1):c.2156_2157insT (p.Lys719fs) rs1274185001
NM_001854.4(COL11A1):c.2158C>G (p.Pro720Ala) rs2101807917
NM_001854.4(COL11A1):c.215C>T (p.Thr72Ile)
NM_001854.4(COL11A1):c.2176C>G (p.Pro726Ala)
NM_001854.4(COL11A1):c.2177C>T (p.Pro726Leu)
NM_001854.4(COL11A1):c.218C>T (p.Ala73Val) rs1672522063
NM_001854.4(COL11A1):c.2191C>A (p.Pro731Thr) rs753495125
NM_001854.4(COL11A1):c.2193_2194dup (p.Pro732fs) rs745956910
NM_001854.4(COL11A1):c.2194C>T (p.Pro732Ser) rs375443900
NM_001854.4(COL11A1):c.2196+10A>G
NM_001854.4(COL11A1):c.2196+11G>A rs1664814779
NM_001854.4(COL11A1):c.2196+17T>C
NM_001854.4(COL11A1):c.2196+5G>A rs2101807527
NM_001854.4(COL11A1):c.2196+8A>G
NM_001854.4(COL11A1):c.2201A>G (p.His734Arg)
NM_001854.4(COL11A1):c.2202T>A (p.His734Gln)
NM_001854.4(COL11A1):c.2203C>G (p.Pro735Ala)
NM_001854.4(COL11A1):c.2206G>A (p.Gly736Arg) rs1664704778
NM_001854.4(COL11A1):c.2207G>T (p.Gly736Val) rs2101800983
NM_001854.4(COL11A1):c.2208G>T (p.Gly736=)
NM_001854.4(COL11A1):c.2215G>A (p.Gly739Ser) rs764676570
NM_001854.4(COL11A1):c.2216G>A (p.Gly739Asp) rs2101800928
NM_001854.4(COL11A1):c.2219A>G (p.Gln740Arg) rs2101800898
NM_001854.4(COL11A1):c.2222C>A (p.Ser741Tyr) rs1205519938
NM_001854.4(COL11A1):c.2225G>C (p.Gly742Ala) rs886044320
NM_001854.4(COL11A1):c.2232G>A (p.Lys744=) rs765354732
NM_001854.4(COL11A1):c.2241+12A>C rs2101800574
NM_001854.4(COL11A1):c.2241+18C>T
NM_001854.4(COL11A1):c.2241+1G>C
NM_001854.4(COL11A1):c.2241+5G>C rs2101800665
NM_001854.4(COL11A1):c.2241+5G>T rs2101800665
NM_001854.4(COL11A1):c.2241+7del rs757265952
NM_001854.4(COL11A1):c.2241G>T (p.Leu747=) rs2101800693
NM_001854.4(COL11A1):c.2244T>C (p.Gly748=) rs1211882498
NM_001854.4(COL11A1):c.2244T>G (p.Gly748=)
NM_001854.4(COL11A1):c.2247C>G (p.Pro749=)
NM_001854.4(COL11A1):c.2251G>T (p.Gly751Cys)
NM_001854.4(COL11A1):c.2260G>A (p.Gly754Ser)
NM_001854.4(COL11A1):c.2265T>C (p.Pro755=)
NM_001854.4(COL11A1):c.2267T>C (p.Ile756Thr)
NM_001854.4(COL11A1):c.2277G>A (p.Pro759=)
NM_001854.4(COL11A1):c.2282C>T (p.Pro761Leu)
NM_001854.4(COL11A1):c.2284C>G (p.Arg762Gly)
NM_001854.4(COL11A1):c.2284C>T (p.Arg762Trp) rs759469788
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2295+15T>C rs2101793813
NM_001854.4(COL11A1):c.2295+1G>C rs1664585937
NM_001854.4(COL11A1):c.2296-19C>T rs776330050
NM_001854.4(COL11A1):c.2296-3C>T
NM_001854.4(COL11A1):c.2300C>A (p.Ala767Glu)
NM_001854.4(COL11A1):c.2300C>G (p.Ala767Gly)
NM_001854.4(COL11A1):c.2324G>A (p.Gly775Glu)
NM_001854.4(COL11A1):c.2335G>C (p.Glu779Gln)
NM_001854.4(COL11A1):c.2335G>T (p.Glu779Ter)
NM_001854.4(COL11A1):c.2340+245dup rs202223220
NM_001854.4(COL11A1):c.2340+257del rs202223220
NM_001854.4(COL11A1):c.2340+9_2340+13del rs374301870
NM_001854.4(COL11A1):c.2340G>A (p.Lys780=)
NM_001854.4(COL11A1):c.2341-11T>C
NM_001854.4(COL11A1):c.2341-11_2341-2del
NM_001854.4(COL11A1):c.2341-13T>A
NM_001854.4(COL11A1):c.2341-16T>A
NM_001854.4(COL11A1):c.2341-20T>A
NM_001854.4(COL11A1):c.2341-3T>C
NM_001854.4(COL11A1):c.2341-7G>A rs2101750596
NM_001854.4(COL11A1):c.2349T>C (p.Asp783=)
NM_001854.4(COL11A1):c.2355T>C (p.Phe785=)
NM_001854.4(COL11A1):c.2356C>G (p.Pro786Ala)
NM_001854.4(COL11A1):c.2360G>T (p.Gly787Val)
NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp) rs886044242
NM_001854.4(COL11A1):c.2378G>A (p.Gly793Asp) rs1663916513
NM_001854.4(COL11A1):c.2386G>C (p.Gly796Arg) rs2101750154
NM_001854.4(COL11A1):c.2386G>T (p.Gly796Cys) rs2101750154
NM_001854.4(COL11A1):c.2394+11A>C
NM_001854.4(COL11A1):c.2394+12G>T
NM_001854.4(COL11A1):c.2394+16A>G
NM_001854.4(COL11A1):c.2394+206T>C rs113281880
NM_001854.4(COL11A1):c.2394+8T>A
NM_001854.4(COL11A1):c.2394+8T>C rs1322783114
NM_001854.4(COL11A1):c.2395-15T>C
NM_001854.4(COL11A1):c.2395-3C>A
NM_001854.4(COL11A1):c.2395G>A (p.Gly799Arg) rs745911557
NM_001854.4(COL11A1):c.2401G>A (p.Val801Ile) rs2101738781
NM_001854.4(COL11A1):c.240A>G (p.Ala80=)
NM_001854.4(COL11A1):c.2414G>A (p.Gly805Asp)
NM_001854.4(COL11A1):c.2414G>T (p.Gly805Val)
NM_001854.4(COL11A1):c.2416C>G (p.Pro806Ala) rs2101738655
NM_001854.4(COL11A1):c.2421A>G (p.Arg807=) rs367824632
NM_001854.4(COL11A1):c.2423G>A (p.Gly808Glu) rs754751701
NM_001854.4(COL11A1):c.2424G>C (p.Gly808=)
NM_001854.4(COL11A1):c.242A>G (p.Gln81Arg)
NM_001854.4(COL11A1):c.2434C>G (p.Pro812Ala) rs2101738447
NM_001854.4(COL11A1):c.2452C>T (p.Arg818Ter)
NM_001854.4(COL11A1):c.2453_2454delinsAT (p.Arg818His)
NM_001854.4(COL11A1):c.2462C>G (p.Pro821Arg) rs2101738235
NM_001854.4(COL11A1):c.246C>G (p.Leu82=)
NM_001854.4(COL11A1):c.2470G>A (p.Asp824Asn) rs1064796668
NM_001854.4(COL11A1):c.2485_2486insAAG (p.Ser828_Gly829insGlu) rs1553227204
NM_001854.4(COL11A1):c.2491G>A (p.Ala831Thr)
NM_001854.4(COL11A1):c.2491G>T (p.Ala831Ser) rs2101738084
NM_001854.4(COL11A1):c.24G>T (p.Trp8Cys)
NM_001854.4(COL11A1):c.2501A>T (p.Lys834Met)
NM_001854.4(COL11A1):c.2502+11G>T
NM_001854.4(COL11A1):c.2502+12A>G
NM_001854.4(COL11A1):c.2502+16del rs576277384
NM_001854.4(COL11A1):c.2502+250dup rs34440236
NM_001854.4(COL11A1):c.2502+271G>A rs115389602
NM_001854.4(COL11A1):c.2503-16T>C
NM_001854.4(COL11A1):c.2503-3T>C
NM_001854.4(COL11A1):c.2503-4G>A rs901317166
NM_001854.4(COL11A1):c.2503-5T>C rs1557903443
NM_001854.4(COL11A1):c.2509C>A (p.Leu837Ile)
NM_001854.4(COL11A1):c.2510T>C (p.Leu837Pro) rs2101714784
NM_001854.4(COL11A1):c.2512G>A (p.Gly838Arg)
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val) rs1663311706
NM_001854.4(COL11A1):c.2536C>A (p.Pro846Thr)
NM_001854.4(COL11A1):c.2549G>C (p.Gly850Ala) rs756693376
NM_001854.4(COL11A1):c.254del (p.Pro85fs)
NM_001854.4(COL11A1):c.2551C>T (p.Pro851Ser)
NM_001854.4(COL11A1):c.2552C>T (p.Pro851Leu)
NM_001854.4(COL11A1):c.2553A>C (p.Pro851=)
NM_001854.4(COL11A1):c.2556+135_2556+136del rs146402276
NM_001854.4(COL11A1):c.2556+18T>A
NM_001854.4(COL11A1):c.2556+332A>G rs150296583
NM_001854.4(COL11A1):c.2556+3A>T
NM_001854.4(COL11A1):c.2557-10A>G
NM_001854.4(COL11A1):c.2557-20A>G
NM_001854.4(COL11A1):c.2557-4G>T
NM_001854.4(COL11A1):c.2557-5T>C
NM_001854.4(COL11A1):c.2557-8T>C rs572637910
NM_001854.4(COL11A1):c.2561C>T (p.Ser854Phe)
NM_001854.4(COL11A1):c.2565T>G (p.Thr855=)
NM_001854.4(COL11A1):c.2573C>T (p.Pro858Leu)
NM_001854.4(COL11A1):c.2577G>A (p.Gly859=) rs1312297641
NM_001854.4(COL11A1):c.257C>A (p.Thr86Lys)
NM_001854.4(COL11A1):c.2580del (p.Pro861fs)
NM_001854.4(COL11A1):c.2584G>A (p.Gly862Ser) rs1662819143
NM_001854.4(COL11A1):c.258A>G (p.Thr86=)
NM_001854.4(COL11A1):c.2590A>G (p.Asn864Asp)
NM_001854.4(COL11A1):c.2591A>G (p.Asn864Ser) rs1340194622
NM_001854.4(COL11A1):c.2603G>A (p.Gly868Asp) rs2101683875
NM_001854.4(COL11A1):c.2609G>A (p.Arg870Gln)
NM_001854.4(COL11A1):c.2610+10A>G
NM_001854.4(COL11A1):c.2611-106ATGA[6] rs148099821
NM_001854.4(COL11A1):c.2611-11G>A
NM_001854.4(COL11A1):c.2611-12T>A
NM_001854.4(COL11A1):c.2611-19_2611-18delinsCC
NM_001854.4(COL11A1):c.2611-2A>T
NM_001854.4(COL11A1):c.2611-4C>G
NM_001854.4(COL11A1):c.2611-6T>C
NM_001854.4(COL11A1):c.2611-9C>T rs1485078930
NM_001854.4(COL11A1):c.2622C>A (p.Gly874=)
NM_001854.4(COL11A1):c.2622C>T (p.Gly874=)
NM_001854.4(COL11A1):c.262C>G (p.Gln88Glu)
NM_001854.4(COL11A1):c.2633C>G (p.Pro878Arg) rs370974962
NM_001854.4(COL11A1):c.2636G>A (p.Arg879Gln)
NM_001854.4(COL11A1):c.2638G>A (p.Gly880Ser)
NM_001854.4(COL11A1):c.263A>T (p.Gln88Leu)
NM_001854.4(COL11A1):c.2654C>T (p.Thr885Met) rs550201657
NM_001854.4(COL11A1):c.2655+6T>A
NM_001854.4(COL11A1):c.2655+9C>T
NM_001854.4(COL11A1):c.2655G>A (p.Thr885=)
NM_001854.4(COL11A1):c.2656-12T>C rs769091234
NM_001854.4(COL11A1):c.2656-15T>C
NM_001854.4(COL11A1):c.2656-4G>T rs1553224423
NM_001854.4(COL11A1):c.2662C>T (p.Arg888Ter) rs748815162
NM_001854.4(COL11A1):c.2663G>A (p.Arg888Gln)
NM_001854.4(COL11A1):c.2674G>C (p.Gly892Arg)
NM_001854.4(COL11A1):c.2676T>G (p.Gly892=)
NM_001854.4(COL11A1):c.2689A>G (p.Thr897Ala) rs2101680384
NM_001854.4(COL11A1):c.268T>A (p.Phe90Ile)
NM_001854.4(COL11A1):c.268T>C (p.Phe90Leu)
NM_001854.4(COL11A1):c.2700T>C (p.Pro900=)
NM_001854.4(COL11A1):c.2701G>C (p.Gly901Arg)
NM_001854.4(COL11A1):c.2707A>T (p.Lys903Ter)
NM_001854.4(COL11A1):c.2709+13C>A
NM_001854.4(COL11A1):c.2709+15T>C
NM_001854.4(COL11A1):c.2709+16T>A
NM_001854.4(COL11A1):c.2709+20del
NM_001854.4(COL11A1):c.2709+7C>A
NM_001854.4(COL11A1):c.2709+7C>G
NM_001854.4(COL11A1):c.2709+9T>G
NM_001854.4(COL11A1):c.2710-16C>T
NM_001854.4(COL11A1):c.2710-17del
NM_001854.4(COL11A1):c.2720G>A (p.Gly907Asp) rs2101679173
NM_001854.4(COL11A1):c.2724C>G (p.Gly908=)
NM_001854.4(COL11A1):c.2724C>T (p.Gly908=) rs201972285
NM_001854.4(COL11A1):c.2729G>A (p.Gly910Asp) rs2101679057
NM_001854.4(COL11A1):c.272C>G (p.Pro91Arg) rs1672517531
NM_001854.4(COL11A1):c.2736T>C (p.Pro912=)
NM_001854.4(COL11A1):c.2739C>A (p.Gly913=)
NM_001854.4(COL11A1):c.274+12T>C
NM_001854.4(COL11A1):c.274+194_274+198del rs141045560
NM_001854.4(COL11A1):c.274+19del rs753977832
NM_001854.4(COL11A1):c.274+3A>G
NM_001854.4(COL11A1):c.274+5A>G rs1571238473
NM_001854.4(COL11A1):c.274+9A>T
NM_001854.4(COL11A1):c.2741C>A (p.Pro914His) rs2101678875
NM_001854.4(COL11A1):c.2741C>T (p.Pro914Leu) rs2101678875
NM_001854.4(COL11A1):c.275-14C>A
NM_001854.4(COL11A1):c.275-17del rs3841819
NM_001854.4(COL11A1):c.275-3C>T
NM_001854.4(COL11A1):c.275-5C>G
NM_001854.4(COL11A1):c.2754+10A>G rs2101678680
NM_001854.4(COL11A1):c.2754+10_2754+15dup rs1332179238
NM_001854.4(COL11A1):c.2754+3A>G
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.2755-14C>T
NM_001854.4(COL11A1):c.2755-15G>A
NM_001854.4(COL11A1):c.2755-17C>T
NM_001854.4(COL11A1):c.2755-2A>G rs2101653580
NM_001854.4(COL11A1):c.2755-4C>A
NM_001854.4(COL11A1):c.2755-9dup
NM_001854.4(COL11A1):c.2758C>A (p.Pro920Thr)
NM_001854.4(COL11A1):c.2759C>T (p.Pro920Leu)
NM_001854.4(COL11A1):c.2764G>A (p.Gly922Arg) rs2101653447
NM_001854.4(COL11A1):c.2768C>T (p.Pro923Leu) rs375398395
NM_001854.4(COL11A1):c.2771A>G (p.Gln924Arg)
NM_001854.4(COL11A1):c.2772G>A (p.Gln924=) rs1662316185
NM_001854.4(COL11A1):c.2773G>A (p.Gly925Ser)
NM_001854.4(COL11A1):c.2777C>T (p.Pro926Leu)
NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu) rs1557891760
NM_001854.4(COL11A1):c.2794C>A (p.Pro932Thr) rs2101653110
NM_001854.4(COL11A1):c.2808+12_2808+13del
NM_001854.4(COL11A1):c.2808+13G>A
NM_001854.4(COL11A1):c.2808+18T>C
NM_001854.4(COL11A1):c.2808+1G>A rs1553223152
NM_001854.4(COL11A1):c.2808+1G>C
NM_001854.4(COL11A1):c.2808+3_2808+6del rs2101652956
NM_001854.4(COL11A1):c.2808+5G>C
NM_001854.4(COL11A1):c.2809-1G>A
NM_001854.4(COL11A1):c.2809-2A>C
NM_001854.4(COL11A1):c.2809-2A>G rs1661835277
NM_001854.4(COL11A1):c.2809-3C>G
NM_001854.4(COL11A1):c.2809-43_2809-40del rs143935916
NM_001854.4(COL11A1):c.2809-6T>C rs2101626245
NM_001854.4(COL11A1):c.2809-7dup
NM_001854.4(COL11A1):c.2809-9T>C
NM_001854.4(COL11A1):c.280A>G (p.Thr94Ala)
NM_001854.4(COL11A1):c.2810G>A (p.Gly937Glu)
NM_001854.4(COL11A1):c.2812C>T (p.Pro938Ser)
NM_001854.4(COL11A1):c.2814A>G (p.Pro938=) rs756359136
NM_001854.4(COL11A1):c.2829G>A (p.Gly943=)
NM_001854.4(COL11A1):c.2832G>T (p.Leu944=)
NM_001854.4(COL11A1):c.2834C>T (p.Pro945Leu)
NM_001854.4(COL11A1):c.2837G>A (p.Gly946Glu)
NM_001854.4(COL11A1):c.2842C>T (p.Pro948Ser)
NM_001854.4(COL11A1):c.2846G>A (p.Gly949Glu)
NM_001854.4(COL11A1):c.284T>C (p.Phe95Ser) rs2102303811
NM_001854.4(COL11A1):c.2851C>T (p.Arg951Cys)
NM_001854.4(COL11A1):c.2852G>A (p.Arg951His)
NM_001854.4(COL11A1):c.2855G>A (p.Gly952Glu)
NM_001854.4(COL11A1):c.2860A>C (p.Thr954Pro)
NM_001854.4(COL11A1):c.2862+11T>C
NM_001854.4(COL11A1):c.2862+151TA[6] rs10639471
NM_001854.4(COL11A1):c.2862+15_2862+43del
NM_001854.4(COL11A1):c.2862+2T>A rs2101625861
NM_001854.4(COL11A1):c.2862+2T>C
NM_001854.4(COL11A1):c.2862+5G>A rs1661827915
NM_001854.4(COL11A1):c.2862+8A>C
NM_001854.4(COL11A1):c.2863-13T>C
NM_001854.4(COL11A1):c.2863-4T>C
NM_001854.4(COL11A1):c.2874C>G (p.Gly958=)
NM_001854.4(COL11A1):c.2880C>A (p.Thr960=)
NM_001854.4(COL11A1):c.2881G>A (p.Gly961Ser) rs975084437
NM_001854.4(COL11A1):c.2883C>T (p.Gly961=) rs2101595386
NM_001854.4(COL11A1):c.2893C>T (p.Pro965Ser)
NM_001854.4(COL11A1):c.2895A>G (p.Pro965=)
NM_001854.4(COL11A1):c.2897G>T (p.Gly966Val)
NM_001854.4(COL11A1):c.28A>G (p.Thr10Ala) rs1448932139
NM_001854.4(COL11A1):c.2902G>A (p.Val968Met)
NM_001854.4(COL11A1):c.2916+12T>G
NM_001854.4(COL11A1):c.2916+19T>C
NM_001854.4(COL11A1):c.2916+19T>G
NM_001854.4(COL11A1):c.2916+1G>A rs2101595036
NM_001854.4(COL11A1):c.2916+3_2916+6dup
NM_001854.4(COL11A1):c.2916+6T>C rs2101594936
NM_001854.4(COL11A1):c.2917-15G>A
NM_001854.4(COL11A1):c.2917-4T>G
NM_001854.4(COL11A1):c.2917-7A>C
NM_001854.4(COL11A1):c.291A>G (p.Glu97=)
NM_001854.4(COL11A1):c.2920C>A (p.Pro974Thr)
NM_001854.4(COL11A1):c.2920C>G (p.Pro974Ala)
NM_001854.4(COL11A1):c.2921C>G (p.Pro974Arg) rs78046647
NM_001854.4(COL11A1):c.2922A>C (p.Pro974=) rs1570881250
NM_001854.4(COL11A1):c.2924C>A (p.Thr975Asn)
NM_001854.4(COL11A1):c.2942T>C (p.Ile981Thr)
NM_001854.4(COL11A1):c.2950C>T (p.Arg984Cys)
NM_001854.4(COL11A1):c.295T>C (p.Phe99Leu) rs2102303756
NM_001854.4(COL11A1):c.2964C>T (p.Gly988=)
NM_001854.4(COL11A1):c.2971G>T (p.Gly991Cys)
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=) rs368868551
NM_001854.4(COL11A1):c.297T>C (p.Phe99=) rs2102303746
NM_001854.4(COL11A1):c.2981G>A (p.Gly994Asp)
NM_001854.4(COL11A1):c.2983G>A (p.Glu995Lys) rs1661034735
NM_001854.4(COL11A1):c.2998G>A (p.Gly1000Ser) rs1661033116
NM_001854.4(COL11A1):c.29C>A (p.Thr10Lys)
NM_001854.4(COL11A1):c.3003_3020del (p.Ala1002_Ala1007del)
NM_001854.4(COL11A1):c.3005C>T (p.Ala1002Val)
NM_001854.4(COL11A1):c.3006A>G (p.Ala1002=)
NM_001854.4(COL11A1):c.3008G>C (p.Gly1003Ala)
NM_001854.4(COL11A1):c.3010A>G (p.Lys1004Glu)
NM_001854.4(COL11A1):c.3011A>G (p.Lys1004Arg)
NM_001854.4(COL11A1):c.3019G>A (p.Ala1007Thr)
NM_001854.4(COL11A1):c.301A>G (p.Ile101Val) rs751303776
NM_001854.4(COL11A1):c.3024+3A>G rs2101575873
NM_001854.4(COL11A1):c.3024+4C>A
NM_001854.4(COL11A1):c.3025-16T>G rs1256508014
NM_001854.4(COL11A1):c.3025-17T>C
NM_001854.4(COL11A1):c.3025-19T>A rs2101572940
NM_001854.4(COL11A1):c.3025-19T>C rs2101572940
NM_001854.4(COL11A1):c.3025-5T>G rs1660986288
NM_001854.4(COL11A1):c.3031C>T (p.Pro1011Ser)
NM_001854.4(COL11A1):c.3035G>A (p.Gly1012Asp)
NM_001854.4(COL11A1):c.3043G>A (p.Gly1015Ser)
NM_001854.4(COL11A1):c.3044G>A (p.Gly1015Asp)
NM_001854.4(COL11A1):c.3044G>C (p.Gly1015Ala)
NM_001854.4(COL11A1):c.3051A>C (p.Ser1017=) rs1570879161
NM_001854.4(COL11A1):c.3065C>G (p.Pro1022Arg)
NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=)
NM_001854.4(COL11A1):c.3073T>A (p.Leu1025Ile)
NM_001854.4(COL11A1):c.3081T>C (p.Gly1027=)
NM_001854.4(COL11A1):c.3085C>T (p.Pro1029Ser)
NM_001854.4(COL11A1):c.3093A>C (p.Glu1031Asp)
NM_001854.4(COL11A1):c.30G>A (p.Thr10=)
NM_001854.4(COL11A1):c.3109G>A (p.Ala1037Thr)
NM_001854.4(COL11A1):c.3114+13T>G
NM_001854.4(COL11A1):c.3114+14C>T
NM_001854.4(COL11A1):c.3114G>A (p.Gln1038=)
NM_001854.4(COL11A1):c.3115-11A>T rs1424014484
NM_001854.4(COL11A1):c.3115-13del
NM_001854.4(COL11A1):c.3115-18T>G rs1660950013
NM_001854.4(COL11A1):c.3115-19T>A
NM_001854.4(COL11A1):c.3127C>A (p.Leu1043Met)
NM_001854.4(COL11A1):c.3128T>C (p.Leu1043Pro) rs886044176
NM_001854.4(COL11A1):c.3145C>T (p.Pro1049Ser)
NM_001854.4(COL11A1):c.3154C>T (p.Pro1052Ser)
NM_001854.4(COL11A1):c.3159A>C (p.Pro1053=)
NM_001854.4(COL11A1):c.3168+13A>G
NM_001854.4(COL11A1):c.3168+1G>A rs886042653
NM_001854.4(COL11A1):c.3168+1G>T rs886042653
NM_001854.4(COL11A1):c.3168+3_3168+4insAG
NM_001854.4(COL11A1):c.3168+5del
NM_001854.4(COL11A1):c.3168+7A>T
NM_001854.4(COL11A1):c.3169-11C>A rs1257200960
NM_001854.4(COL11A1):c.3169-13T>A rs182777459
NM_001854.4(COL11A1):c.3169-13T>C rs182777459
NM_001854.4(COL11A1):c.3169-17C>A
NM_001854.4(COL11A1):c.3169-20C>G
NM_001854.4(COL11A1):c.3169-278_3169-277del rs146566120
NM_001854.4(COL11A1):c.3169-3T>C
NM_001854.4(COL11A1):c.3169-4C>A rs2101408711
NM_001854.4(COL11A1):c.3169-5A>T rs778254056
NM_001854.4(COL11A1):c.3169-7A>G
NM_001854.4(COL11A1):c.3169-9G>T
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)
NM_001854.4(COL11A1):c.3179_3181del (p.Gly1060del)
NM_001854.4(COL11A1):c.3185G>T (p.Arg1062Leu)
NM_001854.4(COL11A1):c.3195A>G (p.Ala1065=)
NM_001854.4(COL11A1):c.31A>G (p.Lys11Glu)
NM_001854.4(COL11A1):c.3203C>G (p.Ala1068Gly)
NM_001854.4(COL11A1):c.3211A>G (p.Ile1071Val)
NM_001854.4(COL11A1):c.3216T>C (p.Gly1072=)
NM_001854.4(COL11A1):c.3219A>G (p.Leu1073=) rs759784635
NM_001854.4(COL11A1):c.3221C>T (p.Pro1074Leu)
NM_001854.4(COL11A1):c.3222A>G (p.Pro1074=)
NM_001854.4(COL11A1):c.3224G>A (p.Gly1075Glu)
NM_001854.4(COL11A1):c.3226C>T (p.Arg1076Cys) rs1659348330
NM_001854.4(COL11A1):c.3229C>G (p.Pro1077Ala) rs144562769
NM_001854.4(COL11A1):c.3229C>T (p.Pro1077Ser)
NM_001854.4(COL11A1):c.3231G>T (p.Pro1077=)
NM_001854.4(COL11A1):c.3235C>T (p.Pro1079Ser)
NM_001854.4(COL11A1):c.323A>G (p.Lys108Arg) rs1173736609
NM_001854.4(COL11A1):c.3246T>C (p.Pro1082=)
NM_001854.4(COL11A1):c.3249T>C (p.Pro1083=)
NM_001854.4(COL11A1):c.3251G>A (p.Gly1084Asp)
NM_001854.4(COL11A1):c.3254C>A (p.Pro1085Gln)
NM_001854.4(COL11A1):c.3258T>C (p.Ala1086=)
NM_001854.4(COL11A1):c.3263A>C (p.Glu1088Ala) rs890128212
NM_001854.4(COL11A1):c.3271G>C (p.Ala1091Pro)
NM_001854.4(COL11A1):c.3274_3276del (p.Pro1092del)
NM_001854.4(COL11A1):c.3276+13T>C
NM_001854.4(COL11A1):c.3276+14A>G
NM_001854.4(COL11A1):c.3276+1_3276+2insGACA
NM_001854.4(COL11A1):c.3276+277del rs199950003
NM_001854.4(COL11A1):c.3276+327G>A rs115664081
NM_001854.4(COL11A1):c.3276+334C>A rs111390713
NM_001854.4(COL11A1):c.3276+5G>A rs2101406246
NM_001854.4(COL11A1):c.3277-20T>A
NM_001854.4(COL11A1):c.3277-9T>A
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala) rs1477374848
NM_001854.4(COL11A1):c.327A>T (p.Lys109Asn)
NM_001854.4(COL11A1):c.3280G>A (p.Glu1094Lys)
NM_001854.4(COL11A1):c.3281A>T (p.Glu1094Val)
NM_001854.4(COL11A1):c.3286G>C (p.Gly1096Arg)
NM_001854.4(COL11A1):c.3287G>A (p.Gly1096Asp)
NM_001854.4(COL11A1):c.3292C>T (p.Gln1098Ter) rs2101305801
NM_001854.4(COL11A1):c.3297G>A (p.Gly1099=)
NM_001854.4(COL11A1):c.3301G>T (p.Ala1101Ser) rs1557849897
NM_001854.4(COL11A1):c.3305G>A (p.Gly1102Glu) rs533762144
NM_001854.4(COL11A1):c.3312T>A (p.Asp1104Glu)
NM_001854.4(COL11A1):c.3312T>C (p.Asp1104=)
NM_001854.4(COL11A1):c.3315A>T (p.Gly1105=)
NM_001854.4(COL11A1):c.3324T>C (p.Gly1108=) rs2101305045
NM_001854.4(COL11A1):c.3327T>C (p.Pro1109=)
NM_001854.4(COL11A1):c.3335_3336inv (p.Leu1112Arg)
NM_001854.4(COL11A1):c.3337C>G (p.Pro1113Ala)
NM_001854.4(COL11A1):c.3354T>G (p.Pro1118=)
NM_001854.4(COL11A1):c.3360C>T (p.Gly1120=) rs2101304198
NM_001854.4(COL11A1):c.3362C>A (p.Ser1121Tyr)
NM_001854.4(COL11A1):c.3362C>T (p.Ser1121Phe)
NM_001854.4(COL11A1):c.3368G>C (p.Gly1123Ala)
NM_001854.4(COL11A1):c.336G>A (p.Gln112=)
NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu) rs17127270
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3376G>A (p.Gly1126Arg)
NM_001854.4(COL11A1):c.3384+12T>G
NM_001854.4(COL11A1):c.3384+14del
NM_001854.4(COL11A1):c.3384+18G>T
NM_001854.4(COL11A1):c.3384+20G>A rs2101303308
NM_001854.4(COL11A1):c.3384G>A (p.Lys1128=)
NM_001854.4(COL11A1):c.3385-17A>C
NM_001854.4(COL11A1):c.3385-2A>C
NM_001854.4(COL11A1):c.3385-8A>C
NM_001854.4(COL11A1):c.3392T>C (p.Ile1131Thr)
NM_001854.4(COL11A1):c.3394G>A (p.Gly1132Ser)
NM_001854.4(COL11A1):c.3400C>A (p.Pro1134Thr)
NM_001854.4(COL11A1):c.3417C>A (p.Ser1139Arg)
NM_001854.4(COL11A1):c.3429G>C (p.Lys1143Asn)
NM_001854.4(COL11A1):c.3430G>A (p.Gly1144Arg)
NM_001854.4(COL11A1):c.3436A>G (p.Asn1146Asp)
NM_001854.4(COL11A1):c.3437A>G (p.Asn1146Ser) rs1658444521
NM_001854.4(COL11A1):c.3438+12A>G
NM_001854.4(COL11A1):c.3438+20C>G
NM_001854.4(COL11A1):c.3438+2T>C
NM_001854.4(COL11A1):c.3438+2T>G rs2101282041
NM_001854.4(COL11A1):c.3438+2_3438+3del rs1557847904
NM_001854.4(COL11A1):c.3438+5G>A
NM_001854.4(COL11A1):c.3439-13T>A
NM_001854.4(COL11A1):c.3439G>A (p.Gly1147Ser) rs1658011510
NM_001854.4(COL11A1):c.3441C>T (p.Gly1147=)
NM_001854.4(COL11A1):c.3450T>A (p.Gly1150=)
NM_001854.4(COL11A1):c.3453C>T (p.Pro1151=) rs2101222515
NM_001854.4(COL11A1):c.3465A>G (p.Gln1155=)
NM_001854.4(COL11A1):c.3478G>A (p.Ala1160Thr)
NM_001854.4(COL11A1):c.3479C>A (p.Ala1160Asp) rs1658006964
NM_001854.4(COL11A1):c.3492+10C>T
NM_001854.4(COL11A1):c.3492+15T>A
NM_001854.4(COL11A1):c.3492+18T>C
NM_001854.4(COL11A1):c.3492+202_3492+205del rs138714814
NM_001854.4(COL11A1):c.3492+20C>T rs1374170381
NM_001854.4(COL11A1):c.3492+9T>A
NM_001854.4(COL11A1):c.3493-14T>C rs2101214979
NM_001854.4(COL11A1):c.3493-15C>T
NM_001854.4(COL11A1):c.3494G>T (p.Gly1165Val)
NM_001854.4(COL11A1):c.3495A>C (p.Gly1165=)
NM_001854.4(COL11A1):c.3495A>G (p.Gly1165=) rs1553208812
NM_001854.4(COL11A1):c.34C>T (p.Arg12Trp)
NM_001854.4(COL11A1):c.3501T>C (p.Asp1167=) rs2101214575
NM_001854.4(COL11A1):c.3508C>T (p.Pro1170Ser)
NM_001854.4(COL11A1):c.3517A>G (p.Arg1173Gly)
NM_001854.4(COL11A1):c.3521G>A (p.Gly1174Glu)
NM_001854.4(COL11A1):c.3526C>G (p.Gln1176Glu)
NM_001854.4(COL11A1):c.3528G>A (p.Gln1176=) rs755406698
NM_001854.4(COL11A1):c.3528G>C (p.Gln1176His) rs755406698
NM_001854.4(COL11A1):c.3529G>A (p.Gly1177Arg)
NM_001854.4(COL11A1):c.352A>G (p.Ile118Val)
NM_001854.4(COL11A1):c.3535T>C (p.Phe1179Leu) rs2101214143
NM_001854.4(COL11A1):c.3537T>C (p.Phe1179=)
NM_001854.4(COL11A1):c.3549T>A (p.Gly1183=)
NM_001854.4(COL11A1):c.3556G>T (p.Gly1186Cys) rs1657938790
NM_001854.4(COL11A1):c.3575G>T (p.Gly1192Val)
NM_001854.4(COL11A1):c.3578C>G (p.Pro1193Arg)
NM_001854.4(COL11A1):c.3579T>C (p.Pro1193=)
NM_001854.4(COL11A1):c.3580C>T (p.Pro1194Ser)
NM_001854.4(COL11A1):c.3590T>C (p.Ile1197Thr)
NM_001854.4(COL11A1):c.3595C>A (p.Leu1199Ile)
NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro) rs767496065
NM_001854.4(COL11A1):c.3600+11C>T
NM_001854.4(COL11A1):c.3600+14G>C rs774149721
NM_001854.4(COL11A1):c.3600+1G>A rs2101213034
NM_001854.4(COL11A1):c.3600+6A>T
NM_001854.4(COL11A1):c.3600+81dup rs113900968
NM_001854.4(COL11A1):c.3600+87del rs113900968
NM_001854.4(COL11A1):c.3601-19T>G
NM_001854.4(COL11A1):c.3601-219A>C rs7553464
NM_001854.4(COL11A1):c.3601-2A>G
NM_001854.4(COL11A1):c.3601-2A>T
NM_001854.4(COL11A1):c.3601-303G>T rs7539682
NM_001854.4(COL11A1):c.3601-46del rs147848946
NM_001854.4(COL11A1):c.3601-8T>A
NM_001854.4(COL11A1):c.3602G>T (p.Gly1201Val) rs1016660094
NM_001854.4(COL11A1):c.3613C>G (p.Pro1205Ala)
NM_001854.4(COL11A1):c.3618T>G (p.Pro1206=)
NM_001854.4(COL11A1):c.3619G>T (p.Gly1207Cys)
NM_001854.4(COL11A1):c.361G>A (p.Glu121Lys)
NM_001854.4(COL11A1):c.3621T>A (p.Gly1207=)
NM_001854.4(COL11A1):c.3623A>G (p.Glu1208Gly)
NM_001854.4(COL11A1):c.3627_3635del (p.Lys1209_Glu1211del)
NM_001854.4(COL11A1):c.3634_3636del (p.Asn1212del)
NM_001854.4(COL11A1):c.3638G>A (p.Gly1213Glu)
NM_001854.4(COL11A1):c.3646G>A (p.Gly1216Ser) rs2101086556
NM_001854.4(COL11A1):c.3647G>A (p.Gly1216Asp) rs1570740272
NM_001854.4(COL11A1):c.3647G>C (p.Gly1216Ala) rs1570740272
NM_001854.4(COL11A1):c.364C>T (p.His122Tyr)
NM_001854.4(COL11A1):c.3653T>C (p.Met1218Thr)
NM_001854.4(COL11A1):c.3654+18del rs2101086275
NM_001854.4(COL11A1):c.3654+20G>A rs1443440437
NM_001854.4(COL11A1):c.3654+4dup
NM_001854.4(COL11A1):c.3654+91_3654+92del rs34112708
NM_001854.4(COL11A1):c.3655-11C>T
NM_001854.4(COL11A1):c.3655-15A>G
NM_001854.4(COL11A1):c.3655-17A>G
NM_001854.4(COL11A1):c.3655-2A>G
NM_001854.4(COL11A1):c.3655-3C>G rs372709465
NM_001854.4(COL11A1):c.3655-3C>T
NM_001854.4(COL11A1):c.3655-9C>T
NM_001854.4(COL11A1):c.3669T>C (p.Pro1223=) rs1655993743
NM_001854.4(COL11A1):c.366T>G (p.His122Gln)
NM_001854.4(COL11A1):c.3671C>G (p.Pro1224Arg)
NM_001854.4(COL11A1):c.3675C>A (p.Gly1225=)
NM_001854.4(COL11A1):c.3675C>T (p.Gly1225=)
NM_001854.4(COL11A1):c.3679A>G (p.Arg1227Gly)
NM_001854.4(COL11A1):c.367G>A (p.Gly123Ser)
NM_001854.4(COL11A1):c.3683G>A (p.Gly1228Asp)
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.3697A>G (p.Asn1233Asp)
NM_001854.4(COL11A1):c.3704C>A (p.Ala1235Asp)
NM_001854.4(COL11A1):c.3708+15AT[2]
NM_001854.4(COL11A1):c.3708+2T>C rs2101074452
NM_001854.4(COL11A1):c.3708+8C>A
NM_001854.4(COL11A1):c.3709-12T>G
NM_001854.4(COL11A1):c.3709-19T>G rs2101067052
NM_001854.4(COL11A1):c.3709-1G>A rs727503881
NM_001854.4(COL11A1):c.3709-4G>A rs764769652
NM_001854.4(COL11A1):c.3709-9A>G
NM_001854.4(COL11A1):c.3709G>A (p.Gly1237Arg) rs2101066917
NM_001854.4(COL11A1):c.3714A>G (p.Pro1238=)
NM_001854.4(COL11A1):c.3715C>A (p.Gln1239Lys)
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs) rs2101066868
NM_001854.4(COL11A1):c.3721C>T (p.Pro1241Ser)
NM_001854.4(COL11A1):c.3722C>T (p.Pro1241Leu) rs151195708
NM_001854.4(COL11A1):c.3723C>T (p.Pro1241=)
NM_001854.4(COL11A1):c.3737G>T (p.Gly1246Val) rs2101066674
NM_001854.4(COL11A1):c.3740C>G (p.Ser1247Ter) rs1655833195
NM_001854.4(COL11A1):c.3745G>A (p.Gly1249Ser)
NM_001854.4(COL11A1):c.3748G>A (p.Gly1250Ser) rs2101066582
NM_001854.4(COL11A1):c.3751G>A (p.Val1251Ile)
NM_001854.4(COL11A1):c.3755G>C (p.Gly1252Ala)
NM_001854.4(COL11A1):c.3757G>A (p.Glu1253Lys)
NM_001854.4(COL11A1):c.3758A>G (p.Glu1253Gly) rs2101066506
NM_001854.4(COL11A1):c.3762+2T>G
NM_001854.4(COL11A1):c.3762G>A (p.Lys1254=)
NM_001854.4(COL11A1):c.3762G>T (p.Lys1254Asn) rs2101066494
NM_001854.4(COL11A1):c.3763-13C>A
NM_001854.4(COL11A1):c.3763-17T>C
NM_001854.4(COL11A1):c.3763-17T>G
NM_001854.4(COL11A1):c.3763-2A>C
NM_001854.4(COL11A1):c.3763-3T>C
NM_001854.4(COL11A1):c.3764G>A (p.Gly1255Asp) rs2101039375
NM_001854.4(COL11A1):c.3775G>C (p.Glu1259Gln)
NM_001854.4(COL11A1):c.3779C>T (p.Ala1260Val) rs750838060
NM_001854.4(COL11A1):c.3783G>A (p.Gly1261=)
NM_001854.4(COL11A1):c.3783G>T (p.Gly1261=) rs2101039217
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=) rs144729226
NM_001854.4(COL11A1):c.3804A>G (p.Glu1268=) rs2101039058
NM_001854.4(COL11A1):c.3810_3816+2del
NM_001854.4(COL11A1):c.3811G>A (p.Val1271Ile) rs150669855
NM_001854.4(COL11A1):c.3816+17T>C
NM_001854.4(COL11A1):c.3816+18_3816+20del
NM_001854.4(COL11A1):c.3816+190C>G rs114612888
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.3816+1G>C rs398122828
NM_001854.4(COL11A1):c.3816+1G>T
NM_001854.4(COL11A1):c.3816+291_3816+294del rs3056626
NM_001854.4(COL11A1):c.3816+2dup rs1469787406
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.3816+94G>A rs74108056
NM_001854.4(COL11A1):c.3817-11A>C
NM_001854.4(COL11A1):c.3817-11dup rs2101033263
NM_001854.4(COL11A1):c.3817-13_3817-12insC
NM_001854.4(COL11A1):c.3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-13dup rs34228277
NM_001854.4(COL11A1):c.3817-14_3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-14_3817-13dup rs34228277
NM_001854.4(COL11A1):c.3817-15_3817-13dup rs34228277
NM_001854.4(COL11A1):c.3817-3T>G
NM_001854.4(COL11A1):c.3817-6G>A
NM_001854.4(COL11A1):c.3817-9A>G
NM_001854.4(COL11A1):c.3828A>G (p.Gly1276=)
NM_001854.4(COL11A1):c.3840G>T (p.Glu1280Asp)
NM_001854.4(COL11A1):c.3843A>T (p.Lys1281Asn)
NM_001854.4(COL11A1):c.3845G>C (p.Gly1282Ala)
NM_001854.4(COL11A1):c.3848A>C (p.Glu1283Ala)
NM_001854.4(COL11A1):c.3871G>A (p.Gly1291Arg)
NM_001854.4(COL11A1):c.3875C>A (p.Pro1292His)
NM_001854.4(COL11A1):c.3887A>G (p.Lys1296Arg) rs1459686009
NM_001854.4(COL11A1):c.3889G>A (p.Gly1297Arg)
NM_001854.4(COL11A1):c.3891G>A (p.Gly1297=)
NM_001854.4(COL11A1):c.3895C>A (p.Pro1299Thr) rs200465040
NM_001854.4(COL11A1):c.3898G>A (p.Gly1300Ser)
NM_001854.4(COL11A1):c.3899G>A (p.Gly1300Asp) rs2101032411
NM_001854.4(COL11A1):c.3914A>C (p.Lys1305Thr)
NM_001854.4(COL11A1):c.3919A>G (p.Asn1307Asp)
NM_001854.4(COL11A1):c.391G>A (p.Val131Ile)
NM_001854.4(COL11A1):c.3924+13G>A
NM_001854.4(COL11A1):c.3924+15del
NM_001854.4(COL11A1):c.3924+4A>C rs2101032268
NM_001854.4(COL11A1):c.3924G>A (p.Pro1308=)
NM_001854.4(COL11A1):c.3925-10G>A rs773007335
NM_001854.4(COL11A1):c.3925-10G>T rs773007335
NM_001854.4(COL11A1):c.3925-2A>G
NM_001854.4(COL11A1):c.3925-5T>G
NM_001854.4(COL11A1):c.3925G>A (p.Gly1309Ser)
NM_001854.4(COL11A1):c.3926G>A (p.Gly1309Asp)
NM_001854.4(COL11A1):c.3928C>A (p.Pro1310Thr)
NM_001854.4(COL11A1):c.3931G>C (p.Val1311Leu)
NM_001854.4(COL11A1):c.3934G>T (p.Gly1312Cys) rs2101030448
NM_001854.4(COL11A1):c.3936_3962del (p.Phe1313_Gly1321del)
NM_001854.4(COL11A1):c.3939del (p.Pro1314fs)
NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter) rs1557812993
NM_001854.4(COL11A1):c.3949C>A (p.Pro1317Thr)
NM_001854.4(COL11A1):c.3949C>T (p.Pro1317Ser) rs1190686816
NM_001854.4(COL11A1):c.3950C>G (p.Pro1317Arg) rs147993467
NM_001854.4(COL11A1):c.3963G>A (p.Gly1321=)
NM_001854.4(COL11A1):c.3967C>T (p.Pro1323Ser)
NM_001854.4(COL11A1):c.3978+11G>A
NM_001854.4(COL11A1):c.3978+12G>A
NM_001854.4(COL11A1):c.3978+1G>C rs1570712889
NM_001854.4(COL11A1):c.3978+20C>T
NM_001854.4(COL11A1):c.3978+2T>G rs1570712875
NM_001854.4(COL11A1):c.3978+4A>G rs1255959388
NM_001854.4(COL11A1):c.3978+4_3978+7del
NM_001854.4(COL11A1):c.3978+5G>A
NM_001854.4(COL11A1):c.3978+6T>C
NM_001854.4(COL11A1):c.3978+71dup rs145342760
NM_001854.4(COL11A1):c.3978+7A>G
NM_001854.4(COL11A1):c.3978A>G (p.Ala1326=)
NM_001854.4(COL11A1):c.3979-12T>C rs2101026303
NM_001854.4(COL11A1):c.3979-14A>G
NM_001854.4(COL11A1):c.3979-19A>G
NM_001854.4(COL11A1):c.3985G>T (p.Asp1329Tyr)
NM_001854.4(COL11A1):c.3989G>A (p.Gly1330Asp) rs547219683
NM_001854.4(COL11A1):c.3995G>T (p.Gly1332Val)
NM_001854.4(COL11A1):c.3998_4009del (p.Gly1333_Gly1336del) rs886042660
NM_001854.4(COL11A1):c.4002_4010del (p.Asp1334_Gly1336del) rs2101026073
NM_001854.4(COL11A1):c.4009G>A (p.Glu1337Lys) rs1654969028
NM_001854.4(COL11A1):c.4014T>C (p.Asp1338=)
NM_001854.4(COL11A1):c.4019A>G (p.Asp1340Gly)
NM_001854.4(COL11A1):c.4028A>C (p.Gln1343Pro)
NM_001854.4(COL11A1):c.4028A>G (p.Gln1343Arg)
NM_001854.4(COL11A1):c.4032+116del rs148757066
NM_001854.4(COL11A1):c.4032+12C>T
NM_001854.4(COL11A1):c.4032+14C>G
NM_001854.4(COL11A1):c.4032+17A>C
NM_001854.4(COL11A1):c.4032+18T>A
NM_001854.4(COL11A1):c.4032+1G>A rs1553200868
NM_001854.4(COL11A1):c.4033-13dup rs771716882
NM_001854.4(COL11A1):c.4033-1G>C rs2101017052
NM_001854.4(COL11A1):c.4033-20T>C rs751133123
NM_001854.4(COL11A1):c.4033-5del
NM_001854.4(COL11A1):c.4040C>T (p.Pro1347Leu)
NM_001854.4(COL11A1):c.4043G>A (p.Gly1348Asp)
NM_001854.4(COL11A1):c.4044C>A (p.Gly1348=)
NM_001854.4(COL11A1):c.4048T>C (p.Ser1350Pro)
NM_001854.4(COL11A1):c.4052G>T (p.Gly1351Val)
NM_001854.4(COL11A1):c.4056G>T (p.Glu1352Asp)
NM_001854.4(COL11A1):c.4059T>G (p.Ala1353=)
NM_001854.4(COL11A1):c.4062C>G (p.Gly1354=)
NM_001854.4(COL11A1):c.4064C>T (p.Pro1355Leu)
NM_001854.4(COL11A1):c.4066C>A (p.Pro1356Thr) rs772400369
NM_001854.4(COL11A1):c.4067_4068del (p.Pro1356fs)
NM_001854.4(COL11A1):c.4070G>A (p.Gly1357Asp)
NM_001854.4(COL11A1):c.4070G>T (p.Gly1357Val)
NM_001854.4(COL11A1):c.4072C>T (p.Pro1358Ser) rs2101016676
NM_001854.4(COL11A1):c.4075C>T (p.Pro1359Ser)
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter) rs755987732
NM_001854.4(COL11A1):c.4085G>A (p.Arg1362Gln)
NM_001854.4(COL11A1):c.4086+17C>T rs369288970
NM_001854.4(COL11A1):c.4086+20T>C rs751128735
NM_001854.4(COL11A1):c.4086+5G>A
NM_001854.4(COL11A1):c.4086+8T>G rs2101016547
NM_001854.4(COL11A1):c.4087-13C>G
NM_001854.4(COL11A1):c.4087-145C>T rs1676499
NM_001854.4(COL11A1):c.4087-15A>G
NM_001854.4(COL11A1):c.4091C>T (p.Pro1364Leu)
NM_001854.4(COL11A1):c.4094C>T (p.Pro1365Leu) rs1652816919
NM_001854.4(COL11A1):c.409T>G (p.Phe137Val)
NM_001854.4(COL11A1):c.4100C>T (p.Ala1367Val) rs1057518442
NM_001854.4(COL11A1):c.4113G>C (p.Glu1371Asp) rs2100925542
NM_001854.4(COL11A1):c.4121A>G (p.Gln1374Arg)
NM_001854.4(COL11A1):c.4127A>T (p.Glu1376Val)
NM_001854.4(COL11A1):c.4131del (p.Gly1378fs) rs2100925460
NM_001854.4(COL11A1):c.4136C>T (p.Ala1379Val) rs764897552
NM_001854.4(COL11A1):c.4137T>G (p.Ala1379=) rs2100925362
NM_001854.4(COL11A1):c.4139A>G (p.Lys1380Arg)
NM_001854.4(COL11A1):c.4140+10A>G rs187171126
NM_001854.4(COL11A1):c.4140+11A>T
NM_001854.4(COL11A1):c.4140+12del rs201645288
NM_001854.4(COL11A1):c.4140+12dup rs201645288
NM_001854.4(COL11A1):c.4140+13_4140+14del
NM_001854.4(COL11A1):c.4140+14A>T
NM_001854.4(COL11A1):c.4140+16T>A rs943476190
NM_001854.4(COL11A1):c.4140+17A>G
NM_001854.4(COL11A1):c.4140+18T>C
NM_001854.4(COL11A1):c.4140+3A>G
NM_001854.4(COL11A1):c.4140+3A>T rs1553196515
NM_001854.4(COL11A1):c.4141-14T>A
NM_001854.4(COL11A1):c.4141-2del
NM_001854.4(COL11A1):c.4141-9_4141-6del
NM_001854.4(COL11A1):c.4142G>T (p.Gly1381Val)
NM_001854.4(COL11A1):c.4167T>C (p.Pro1389=) rs754697310
NM_001854.4(COL11A1):c.4171A>G (p.Lys1391Glu) rs2100923419
NM_001854.4(COL11A1):c.4172A>T (p.Lys1391Ile)
NM_001854.4(COL11A1):c.4173A>T (p.Lys1391Asn) rs753496492
NM_001854.4(COL11A1):c.4176C>T (p.Thr1392=)
NM_001854.4(COL11A1):c.4177G>T (p.Gly1393Cys)
NM_001854.4(COL11A1):c.4180C>A (p.Pro1394Thr) rs2100923228
NM_001854.4(COL11A1):c.4186G>A (p.Gly1396Ser)
NM_001854.4(COL11A1):c.4193A>G (p.Gln1398Arg)
NM_001854.4(COL11A1):c.4195G>C (p.Gly1399Arg)
NM_001854.4(COL11A1):c.4202C>A (p.Ala1401Glu) rs2100922988
NM_001854.4(COL11A1):c.4213G>C (p.Gly1405Arg) rs376137502
NM_001854.4(COL11A1):c.4214G>A (p.Gly1405Asp) rs1652764880
NM_001854.4(COL11A1):c.4218A>G (p.Pro1406=)
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp) rs778331804
NM_001854.4(COL11A1):c.4229G>A (p.Arg1410Gln)
NM_001854.4(COL11A1):c.4234A>C (p.Ile1412Leu)
NM_001854.4(COL11A1):c.4240G>T (p.Gly1414Cys)
NM_001854.4(COL11A1):c.4243C>G (p.Pro1415Ala) rs2100922475
NM_001854.4(COL11A1):c.4247T>C (p.Val1416Ala)
NM_001854.4(COL11A1):c.4248+13G>A
NM_001854.4(COL11A1):c.4248+5G>A rs2100922391
NM_001854.4(COL11A1):c.4302+225dup rs140129829
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.4303-10T>C rs912413662
NM_001854.4(COL11A1):c.4303-12G>C
NM_001854.4(COL11A1):c.4303-12G>T
NM_001854.4(COL11A1):c.4303-13del rs35232764
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.4303-14T>C
NM_001854.4(COL11A1):c.4303-14_4303-13del
NM_001854.4(COL11A1):c.4303-14_4303-13dup rs35232764
NM_001854.4(COL11A1):c.4303-22T>G rs74108036
NM_001854.4(COL11A1):c.4303-22_4303-20delinsGAA rs2100864833
NM_001854.4(COL11A1):c.4303-3T>G rs2100864517
NM_001854.4(COL11A1):c.4303-8T>C
NM_001854.4(COL11A1):c.4305A>G (p.Gly1435=)
NM_001854.4(COL11A1):c.4306C>T (p.Pro1436Ser)
NM_001854.4(COL11A1):c.4310C>A (p.Pro1437His)
NM_001854.4(COL11A1):c.4312G>A (p.Gly1438Ser)
NM_001854.4(COL11A1):c.4313G>C (p.Gly1438Ala)
NM_001854.4(COL11A1):c.4321G>A (p.Gly1441Ser) rs774928560
NM_001854.4(COL11A1):c.4322G>A (p.Gly1441Asp)
NM_001854.4(COL11A1):c.4324C>T (p.Leu1442Phe)
NM_001854.4(COL11A1):c.4327A>G (p.Lys1443Glu)
NM_001854.4(COL11A1):c.4335C>A (p.Asp1445Glu)
NM_001854.4(COL11A1):c.4341C>A (p.Gly1447=) rs2100864112
NM_001854.4(COL11A1):c.4348G>C (p.Gly1450Arg)
NM_001854.4(COL11A1):c.4356+13G>A rs377662745
NM_001854.4(COL11A1):c.4356+13G>T rs377662745
NM_001854.4(COL11A1):c.4356+15A>C
NM_001854.4(COL11A1):c.4356+17G>A rs778398537
NM_001854.4(COL11A1):c.4356+220G>T rs186749898
NM_001854.4(COL11A1):c.4356+2T>C rs2100864027
NM_001854.4(COL11A1):c.4356+3G>A
NM_001854.4(COL11A1):c.4356+7A>C
NM_001854.4(COL11A1):c.4357-11G>T
NM_001854.4(COL11A1):c.4357-15C>A
NM_001854.4(COL11A1):c.4357-16dup rs748850423
NM_001854.4(COL11A1):c.4357-17T>C
NM_001854.4(COL11A1):c.4357-17T>G
NM_001854.4(COL11A1):c.4357-314_4357-310del rs201893127
NM_001854.4(COL11A1):c.4363C>G (p.Pro1455Ala)
NM_001854.4(COL11A1):c.4381A>G (p.Ile1461Val) rs2100858136
NM_001854.4(COL11A1):c.4382T>C (p.Ile1461Thr) rs1651477480
NM_001854.4(COL11A1):c.4411G>T (p.Gly1471Cys) rs1057522949
NM_001854.4(COL11A1):c.4412G>T (p.Gly1471Val)
NM_001854.4(COL11A1):c.4417C>G (p.Arg1473Gly)
NM_001854.4(COL11A1):c.4417C>T (p.Arg1473Ter)
NM_001854.4(COL11A1):c.4418G>A (p.Arg1473Gln)
NM_001854.4(COL11A1):c.4423C>T (p.Leu1475Phe)
NM_001854.4(COL11A1):c.4425C>T (p.Leu1475=)
NM_001854.4(COL11A1):c.442C>T (p.Pro148Ser) rs1322123798
NM_001854.4(COL11A1):c.4436A>G (p.Gln1479Arg)
NM_001854.4(COL11A1):c.4445C>T (p.Pro1482Leu)
NM_001854.4(COL11A1):c.4453A>G (p.Lys1485Glu) rs2100857470
NM_001854.4(COL11A1):c.4464+16G>C rs1651460619
NM_001854.4(COL11A1):c.4464+19del
NM_001854.4(COL11A1):c.4464+46CA[14] rs113226085
NM_001854.4(COL11A1):c.4464+46CA[15] rs113226085
NM_001854.4(COL11A1):c.4464+46CA[17] rs113226085
NM_001854.4(COL11A1):c.4464+46CA[18] rs113226085
NM_001854.4(COL11A1):c.4464+46CA[19] rs113226085
NM_001854.4(COL11A1):c.4464+46CA[20] rs113226085
NM_001854.4(COL11A1):c.4465-10C>A
NM_001854.4(COL11A1):c.4465-10CT[3]
NM_001854.4(COL11A1):c.4465-14G>C
NM_001854.4(COL11A1):c.4465-1G>A
NM_001854.4(COL11A1):c.4465-4C>G
NM_001854.4(COL11A1):c.4465-5T>G
NM_001854.4(COL11A1):c.4470T>A (p.Ile1490=) rs2100853669
NM_001854.4(COL11A1):c.4471C>A (p.Pro1491Thr)
NM_001854.4(COL11A1):c.4493G>A (p.Gly1498Asp)
NM_001854.4(COL11A1):c.4508C>G (p.Pro1503Arg)
NM_001854.4(COL11A1):c.4508C>T (p.Pro1503Leu)
NM_001854.4(COL11A1):c.4516C>T (p.Pro1506Ser)
NM_001854.4(COL11A1):c.4518+11G>A
NM_001854.4(COL11A1):c.4518+12A>G rs2100853231
NM_001854.4(COL11A1):c.4518+17A>G
NM_001854.4(COL11A1):c.4518+17del
NM_001854.4(COL11A1):c.4518+1G>A
NM_001854.4(COL11A1):c.4518+4del
NM_001854.4(COL11A1):c.4518+5G>A rs2100853342
NM_001854.4(COL11A1):c.4518+5G>T
NM_001854.4(COL11A1):c.4518+8C>T
NM_001854.4(COL11A1):c.4519-10C>A rs1252749477
NM_001854.4(COL11A1):c.4519-15A>T
NM_001854.4(COL11A1):c.4519-16C>T
NM_001854.4(COL11A1):c.4519-17_4519-16insTTTGAA rs1472384892
NM_001854.4(COL11A1):c.4519-2A>G rs2100852410
NM_001854.4(COL11A1):c.4519-8T>C rs1570635708
NM_001854.4(COL11A1):c.4519-9A>G rs542653794
NM_001854.4(COL11A1):c.4520G>A (p.Gly1507Asp) rs1651344343
NM_001854.4(COL11A1):c.4534A>G (p.Lys1512Glu) rs1651341768
NM_001854.4(COL11A1):c.4536G>A (p.Lys1512=)
NM_001854.4(COL11A1):c.4537G>A (p.Gly1513Ser)
NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp) rs1553193913
NM_001854.4(COL11A1):c.4542C>A (p.Asn1514Lys)
NM_001854.4(COL11A1):c.4544A>G (p.Lys1515Arg)
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001854.4(COL11A1):c.4552A>C (p.Thr1518Pro) rs1057523166
NM_001854.4(COL11A1):c.4554+12del rs1256804074
NM_001854.4(COL11A1):c.4554+1G>C rs886044244
NM_001854.4(COL11A1):c.4555-16C>G
NM_001854.4(COL11A1):c.4555-4A>T rs1570635252
NM_001854.4(COL11A1):c.4561G>T (p.Ala1521Ser) rs769920499
NM_001854.4(COL11A1):c.4565G>A (p.Gly1522Asp)
NM_001854.4(COL11A1):c.4565G>T (p.Gly1522Val) rs1651323625
NM_001854.4(COL11A1):c.4566C>T (p.Gly1522=)
NM_001854.4(COL11A1):c.456C>A (p.Pro152=) rs751512442
NM_001854.4(COL11A1):c.4572A>G (p.Lys1524=)
NM_001854.4(COL11A1):c.4573G>A (p.Gly1525Ser)
NM_001854.4(COL11A1):c.457C>T (p.Leu153Phe)
NM_001854.4(COL11A1):c.4585C>A (p.Leu1529Ile) rs2100851363
NM_001854.4(COL11A1):c.4590A>T (p.Pro1530=)
NM_001854.4(COL11A1):c.4592G>C (p.Gly1531Ala) rs2100851333
NM_001854.4(COL11A1):c.4594C>A (p.Pro1532Thr) rs140954784
NM_001854.4(COL11A1):c.4602_4603delinsCC (p.Ser1535Pro) rs2100851256
NM_001854.4(COL11A1):c.4603_4604delinsCT (p.Ser1535Leu) rs2100851197
NM_001854.4(COL11A1):c.4608+20_4608+26del
NM_001854.4(COL11A1):c.4609-11C>A
NM_001854.4(COL11A1):c.4609-6T>C
NM_001854.4(COL11A1):c.4613C>T (p.Pro1538Leu) rs1474325280
NM_001854.4(COL11A1):c.4619G>A (p.Gly1540Asp) rs1432536379
NM_001854.4(COL11A1):c.4620T>C (p.Gly1540=)
NM_001854.4(COL11A1):c.4621G>A (p.Glu1541Lys) rs2100841350
NM_001854.4(COL11A1):c.4623A>G (p.Glu1541=) rs2100841333
NM_001854.4(COL11A1):c.4633C>A (p.Pro1545Thr)
NM_001854.4(COL11A1):c.4633C>T (p.Pro1545Ser)
NM_001854.4(COL11A1):c.4642A>G (p.Ile1548Val) rs1557775198
NM_001854.4(COL11A1):c.4643T>C (p.Ile1548Thr)
NM_001854.4(COL11A1):c.4645T>A (p.Leu1549Met)
NM_001854.4(COL11A1):c.4653C>A (p.Ser1551=) rs774737090
NM_001854.4(COL11A1):c.4660A>C (p.Thr1554Pro) rs2100840975
NM_001854.4(COL11A1):c.4660dup (p.Thr1554fs) rs1570630126
NM_001854.4(COL11A1):c.4661C>A (p.Thr1554Lys)
NM_001854.4(COL11A1):c.4662G>A (p.Thr1554=)
NM_001854.4(COL11A1):c.4662G>T (p.Thr1554=)
NM_001854.4(COL11A1):c.4666A>G (p.Arg1556Gly)
NM_001854.4(COL11A1):c.4667G>A (p.Arg1556Lys)
NM_001854.4(COL11A1):c.4669C>T (p.His1557Tyr)
NM_001854.4(COL11A1):c.4692T>G (p.Asp1564Glu)
NM_001854.4(COL11A1):c.4693G>A (p.Ala1565Thr)
NM_001854.4(COL11A1):c.46G>A (p.Asp16Asn)
NM_001854.4(COL11A1):c.4717T>G (p.Ser1573Ala)
NM_001854.4(COL11A1):c.4728G>T (p.Met1576Ile) rs886044974
NM_001854.4(COL11A1):c.4737A>C (p.Ile1579=) rs1651058219
NM_001854.4(COL11A1):c.4738T>C (p.Phe1580Leu)
NM_001854.4(COL11A1):c.4741G>A (p.Gly1581Ser)
NM_001854.4(COL11A1):c.4742G>T (p.Gly1581Val)
NM_001854.4(COL11A1):c.4746C>T (p.Ser1582=) rs1651056020
NM_001854.4(COL11A1):c.4763A>G (p.Gln1588Arg) rs747648407
NM_001854.4(COL11A1):c.4765G>A (p.Asp1589Asn)
NM_001854.4(COL11A1):c.4771G>A (p.Glu1591Lys)
NM_001854.4(COL11A1):c.4782A>G (p.Lys1594=) rs1283894129
NM_001854.4(COL11A1):c.4784T>C (p.Phe1595Ser)
NM_001854.4(COL11A1):c.4788A>G (p.Pro1596=) rs1651047517
NM_001854.4(COL11A1):c.4799A>G (p.Gln1600Arg)
NM_001854.4(COL11A1):c.4802C>T (p.Thr1601Ile)
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.4810G>A (p.Ala1604Thr)
NM_001854.4(COL11A1):c.4813C>T (p.Arg1605Ter)
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)
NM_001854.4(COL11A1):c.4814G>C (p.Arg1605Pro) rs371100196
NM_001854.4(COL11A1):c.4814G>T (p.Arg1605Leu)
NM_001854.4(COL11A1):c.4819T>C (p.Cys1607Arg) rs2100839621
NM_001854.4(COL11A1):c.4833A>G (p.Gln1611=)
NM_001854.4(COL11A1):c.4834C>G (p.Leu1612Val)
NM_001854.4(COL11A1):c.4844C>T (p.Pro1615Leu)
NM_001854.4(COL11A1):c.4845T>G (p.Pro1615=)
NM_001854.4(COL11A1):c.4848C>A (p.Asp1616Glu) rs2100839539
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_001854.4(COL11A1):c.4857T>C (p.Asp1619=)
NM_001854.4(COL11A1):c.4858+18G>A
NM_001854.4(COL11A1):c.4858+287G>A rs1463048
NM_001854.4(COL11A1):c.4859-10T>C
NM_001854.4(COL11A1):c.4859-11C>T
NM_001854.4(COL11A1):c.4859-19_4859-18del
NM_001854.4(COL11A1):c.4859-7C>T
NM_001854.4(COL11A1):c.4859-8C>T
NM_001854.4(COL11A1):c.4865A>G (p.Tyr1622Cys) rs2101026386
NM_001854.4(COL11A1):c.4869G>T (p.Trp1623Cys)
NM_001854.4(COL11A1):c.4878T>C (p.Pro1626=) rs1570618762
NM_001854.4(COL11A1):c.487A>G (p.Lys163Glu)
NM_001854.4(COL11A1):c.488+10A>G
NM_001854.4(COL11A1):c.488+6T>C
NM_001854.4(COL11A1):c.488+7A>G rs1571228967
NM_001854.4(COL11A1):c.4882C>T (p.Gln1628Ter)
NM_001854.4(COL11A1):c.4886G>T (p.Gly1629Val) rs372504909
NM_001854.4(COL11A1):c.4889G>A (p.Cys1630Tyr) rs983620607
NM_001854.4(COL11A1):c.489-19A>G
NM_001854.4(COL11A1):c.489-20G>T
NM_001854.4(COL11A1):c.489-3T>C
NM_001854.4(COL11A1):c.489-3dup rs1671845303
NM_001854.4(COL11A1):c.4903T>C (p.Phe1635Leu)
NM_001854.4(COL11A1):c.4906A>C (p.Lys1636Gln)
NM_001854.4(COL11A1):c.4913A>G (p.Tyr1638Cys)
NM_001854.4(COL11A1):c.4927T>C (p.Ser1643Pro)
NM_001854.4(COL11A1):c.4931G>A (p.Gly1644Asp)
NM_001854.4(COL11A1):c.4951C>T (p.Pro1651Ser)
NM_001854.4(COL11A1):c.4955A>G (p.Asp1652Gly)
NM_001854.4(COL11A1):c.4956C>A (p.Asp1652Glu)
NM_001854.4(COL11A1):c.4961A>C (p.Lys1654Thr) rs2101025808
NM_001854.4(COL11A1):c.4962A>G (p.Lys1654=) rs2101025797
NM_001854.4(COL11A1):c.4969G>A (p.Gly1657Arg)
NM_001854.4(COL11A1):c.4971+102T>A rs74108030
NM_001854.4(COL11A1):c.4971+16T>C rs550899555
NM_001854.4(COL11A1):c.4972-12C>G rs2101018021
NM_001854.4(COL11A1):c.4972-19T>C
NM_001854.4(COL11A1):c.4972-263G>T rs112098344
NM_001854.4(COL11A1):c.4972-6C>T
NM_001854.4(COL11A1):c.4972-7G>T
NM_001854.4(COL11A1):c.497G>A (p.Arg166Gln) rs142753283
NM_001854.4(COL11A1):c.497G>T (p.Arg166Leu)
NM_001854.4(COL11A1):c.4983A>G (p.Ser1661=) rs749476906
NM_001854.4(COL11A1):c.4985C>G (p.Ser1662Ter) rs956233074
NM_001854.4(COL11A1):c.4986A>G (p.Ser1662=) rs780298913
NM_001854.4(COL11A1):c.4986A>T (p.Ser1662=)
NM_001854.4(COL11A1):c.498G>C (p.Arg166=)
NM_001854.4(COL11A1):c.4990C>A (p.Pro1664Thr)
NM_001854.4(COL11A1):c.4991C>A (p.Pro1664Gln) rs1650268405
NM_001854.4(COL11A1):c.4995G>T (p.Lys1665Asn)
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu) rs541676352
NM_001854.4(COL11A1):c.5009_5013del (p.Ser1670fs) rs2101017789
NM_001854.4(COL11A1):c.5013G>T (p.Trp1671Cys)
NM_001854.4(COL11A1):c.5019T>G (p.Ser1673Arg)
NM_001854.4(COL11A1):c.501A>G (p.Val167=)
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)
NM_001854.4(COL11A1):c.5031G>A (p.Arg1677=)
NM_001854.4(COL11A1):c.5033G>A (p.Gly1678Glu)
NM_001854.4(COL11A1):c.5033dup (p.Leu1680fs)
NM_001854.4(COL11A1):c.5038C>T (p.Leu1680=)
NM_001854.4(COL11A1):c.5039T>G (p.Leu1680Arg) rs2101017664
NM_001854.4(COL11A1):c.5040+10T>A
NM_001854.4(COL11A1):c.5040+13C>G
NM_001854.4(COL11A1):c.5040+17A>G
NM_001854.4(COL11A1):c.5040+19A>G rs753508540
NM_001854.4(COL11A1):c.5040+7T>A
NM_001854.4(COL11A1):c.5040+8A>G rs2101017606
NM_001854.4(COL11A1):c.510C>A (p.Ser170Arg)
NM_001854.4(COL11A1):c.513G>A (p.Val171=)
NM_001854.4(COL11A1):c.517A>G (p.Lys173Glu)
NM_001854.4(COL11A1):c.5275-16C>T
NM_001854.4(COL11A1):c.5275-178A>C rs116234463
NM_001854.4(COL11A1):c.5275-20A>G
NM_001854.4(COL11A1):c.5277C>A (p.Ser1759=) rs2100996694
NM_001854.4(COL11A1):c.5280A>T (p.Arg1760Ser)
NM_001854.4(COL11A1):c.5288A>G (p.Tyr1763Cys) rs1649735346
NM_001854.4(COL11A1):c.5291A>G (p.Glu1764Gly)
NM_001854.4(COL11A1):c.5292A>C (p.Glu1764Asp)
NM_001854.4(COL11A1):c.5292A>G (p.Glu1764=)
NM_001854.4(COL11A1):c.5294del (p.Lys1765fs) rs2100996466
NM_001854.4(COL11A1):c.5296A>T (p.Thr1766Ser) rs1557764324
NM_001854.4(COL11A1):c.52A>G (p.Thr18Ala) rs114630202
NM_001854.4(COL11A1):c.5303T>A (p.Ile1768Asn)
NM_001854.4(COL11A1):c.5307_5327del (p.Glu1769_Ile1775del)
NM_001854.4(COL11A1):c.5312A>C (p.Asn1771Thr)
NM_001854.4(COL11A1):c.5312A>G (p.Asn1771Ser)
NM_001854.4(COL11A1):c.5317C>A (p.Pro1773Thr) rs750652823
NM_001854.4(COL11A1):c.5317C>T (p.Pro1773Ser) rs750652823
NM_001854.4(COL11A1):c.5323A>C (p.Ile1775Leu)
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=) rs532113782
NM_001854.4(COL11A1):c.5329C>G (p.Gln1777Glu)
NM_001854.4(COL11A1):c.532A>G (p.Met178Val)
NM_001854.4(COL11A1):c.5331A>C (p.Gln1777His)
NM_001854.4(COL11A1):c.5343T>G (p.Val1781=)
NM_001854.4(COL11A1):c.5355C>A (p.Ile1785=)
NM_001854.4(COL11A1):c.5357dup (p.Asn1786fs)
NM_001854.4(COL11A1):c.5360A>T (p.Asp1787Val)
NM_001854.4(COL11A1):c.5372_5373delinsGC (p.Gln1791Arg) rs2100995563
NM_001854.4(COL11A1):c.5398G>A (p.Gly1800Ser) rs958368134
NM_001854.4(COL11A1):c.5398G>T (p.Gly1800Cys)
NM_001854.4(COL11A1):c.539T>C (p.Val180Ala)
NM_001854.4(COL11A1):c.53C>A (p.Thr18Asn)
NM_001854.4(COL11A1):c.53C>T (p.Thr18Ile) rs2102453221
NM_001854.4(COL11A1):c.5401C>T (p.Pro1801Ser)
NM_001854.4(COL11A1):c.5410T>C (p.Phe1804Leu) rs546905537
NM_001854.4(COL11A1):c.5412T>A (p.Phe1804Leu)
NM_001854.4(COL11A1):c.541G>A (p.Asp181Asn)
NM_001854.4(COL11A1):c.5420A>G (p.Ter1807=)
NM_001854.4(COL11A1):c.5421A>G (p.Ter1807=)
NM_001854.4(COL11A1):c.547A>G (p.Lys183Glu)
NM_001854.4(COL11A1):c.548A>G (p.Lys183Arg) rs1671839259
NM_001854.4(COL11A1):c.548A>T (p.Lys183Met)
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del) rs774335092
NM_001854.4(COL11A1):c.551A>G (p.Lys184Arg) rs2102281739
NM_001854.4(COL11A1):c.556A>G (p.Thr186Ala) rs2102281711
NM_001854.4(COL11A1):c.55G>C (p.Val19Leu)
NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys) rs184606223
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met) rs184606223
NM_001854.4(COL11A1):c.561G>A (p.Thr187=)
NM_001854.4(COL11A1):c.565C>A (p.Pro189Thr) rs201557468
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_001854.4(COL11A1):c.581A>T (p.Glu194Val) rs1671835289
NM_001854.4(COL11A1):c.584G>T (p.Arg195Ile)
NM_001854.4(COL11A1):c.590T>C (p.Ile197Thr)
NM_001854.4(COL11A1):c.611C>A (p.Thr204Lys) rs199595073
NM_001854.4(COL11A1):c.612G>A (p.Thr204=) rs545867472
NM_001854.4(COL11A1):c.612G>T (p.Thr204=) rs545867472
NM_001854.4(COL11A1):c.615T>G (p.Val205=)
NM_001854.4(COL11A1):c.622A>C (p.Thr208Pro)
NM_001854.4(COL11A1):c.623C>T (p.Thr208Ile)
NM_001854.4(COL11A1):c.625A>C (p.Arg209=)
NM_001854.4(COL11A1):c.626G>A (p.Arg209Lys)
NM_001854.4(COL11A1):c.62C>T (p.Thr21Ile)
NM_001854.4(COL11A1):c.645T>G (p.Val215=)
NM_001854.4(COL11A1):c.651+18T>G
NM_001854.4(COL11A1):c.651+19C>G
NM_001854.4(COL11A1):c.652-11_652-10insTTG rs776283234
NM_001854.4(COL11A1):c.652-12T>C rs766178130
NM_001854.4(COL11A1):c.652-12T>G
NM_001854.4(COL11A1):c.652-13_652-12insTTG rs1208704403
NM_001854.4(COL11A1):c.652-14T>A
NM_001854.4(COL11A1):c.652-14_652-13insG rs368143009
NM_001854.4(COL11A1):c.652-14_652-13insTTG rs1553240902
NM_001854.4(COL11A1):c.652-15T>G
NM_001854.4(COL11A1):c.652-15_652-14insTTC
NM_001854.4(COL11A1):c.652-15_652-14insTTG rs1278065221
NM_001854.4(COL11A1):c.652-16T>G
NM_001854.4(COL11A1):c.652-17T>G rs555770298
NM_001854.4(COL11A1):c.652-18T>C
NM_001854.4(COL11A1):c.652-18_652-16dup rs36076089
NM_001854.4(COL11A1):c.652-19G>T rs750425179
NM_001854.4(COL11A1):c.652-19_652-10del
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_001854.4(COL11A1):c.652-37_652-15del
NM_001854.4(COL11A1):c.652-3C>G
NM_001854.4(COL11A1):c.652-6_652-5insTC rs749687230
NM_001854.4(COL11A1):c.652-6_652-5insTTC rs749687230
NM_001854.4(COL11A1):c.652-6_652-5insTTTC
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089
NM_001854.4(COL11A1):c.652-8T>C
NM_001854.4(COL11A1):c.656A>G (p.Asp219Gly)
NM_001854.4(COL11A1):c.656A>T (p.Asp219Val)
NM_001854.4(COL11A1):c.66C>G (p.Leu22=) rs777271909
NM_001854.4(COL11A1):c.672G>A (p.Leu224=)
NM_001854.4(COL11A1):c.67G>T (p.Ala23Ser) rs1386580787
NM_001854.4(COL11A1):c.67_74delinsCT (p.Ala23_Thr25delinsLeu) rs2102453038
NM_001854.4(COL11A1):c.688A>G (p.Lys230Glu)
NM_001854.4(COL11A1):c.695C>T (p.Ala232Val) rs2101995475
NM_001854.4(COL11A1):c.696A>T (p.Ala232=)
NM_001854.4(COL11A1):c.69A>T (p.Ala23=)
NM_001854.4(COL11A1):c.6G>A (p.Glu2=) rs2102453487
NM_001854.4(COL11A1):c.700G>A (p.Asp234Asn)
NM_001854.4(COL11A1):c.700G>T (p.Asp234Tyr)
NM_001854.4(COL11A1):c.702C>G (p.Asp234Glu)
NM_001854.4(COL11A1):c.709G>A (p.Glu237Lys) rs2101995328
NM_001854.4(COL11A1):c.717T>C (p.Tyr239=)
NM_001854.4(COL11A1):c.721C>T (p.Pro241Ser) rs1435390186
NM_001854.4(COL11A1):c.724G>T (p.Asp242Tyr)
NM_001854.4(COL11A1):c.729_730del (p.Cys243_Asp244delinsTer)
NM_001854.4(COL11A1):c.740C>G (p.Ala247Gly) rs773180523
NM_001854.4(COL11A1):c.742C>T (p.Pro248Ser)
NM_001854.4(COL11A1):c.763G>C (p.Glu255Gln) rs768132080
NM_001854.4(COL11A1):c.768T>A (p.Pro256=)
NM_001854.4(COL11A1):c.773T>G (p.Ile258Arg) rs2101994888
NM_001854.4(COL11A1):c.778G>A (p.Glu260Lys)
NM_001854.4(COL11A1):c.77T>C (p.Phe26Ser)
NM_001854.4(COL11A1):c.780+11C>A
NM_001854.4(COL11A1):c.780+13A>T rs1322678821
NM_001854.4(COL11A1):c.780+1G>T
NM_001854.4(COL11A1):c.781-19T>C rs1667519151
NM_001854.4(COL11A1):c.781-292_781-291del rs67985164
NM_001854.4(COL11A1):c.781-5T>G rs1667517373
NM_001854.4(COL11A1):c.781T>C (p.Tyr261His)
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr) rs372319750
NM_001854.4(COL11A1):c.787C>T (p.Pro263Ser) rs372319750
NM_001854.4(COL11A1):c.790G>C (p.Glu264Gln)
NM_001854.4(COL11A1):c.795T>C (p.Asp265=)
NM_001854.4(COL11A1):c.799A>G (p.Ile267Val)
NM_001854.4(COL11A1):c.79C>G (p.Leu27Val) rs2102453014
NM_001854.4(COL11A1):c.802G>A (p.Glu268Lys)
NM_001854.4(COL11A1):c.802G>T (p.Glu268Ter)
NM_001854.4(COL11A1):c.807T>C (p.Tyr269=)
NM_001854.4(COL11A1):c.813T>C (p.Tyr271=) rs1667511960
NM_001854.4(COL11A1):c.830_831dup (p.Tyr278fs)
NM_001854.4(COL11A1):c.832T>C (p.Tyr278His) rs1372677796
NM_001854.4(COL11A1):c.834T>C (p.Tyr278=)
NM_001854.4(COL11A1):c.840G>T (p.Glu280Asp)
NM_001854.4(COL11A1):c.866C>T (p.Thr289Ile)
NM_001854.4(COL11A1):c.867T>C (p.Thr289=) rs2101965992
NM_001854.4(COL11A1):c.867del (p.Thr289_Val290insTer) rs1571079651
NM_001854.4(COL11A1):c.868G>A (p.Val290Ile)
NM_001854.4(COL11A1):c.876G>T (p.Glu292Asp) rs768795702
NM_001854.4(COL11A1):c.888A>G (p.Ala296=)
NM_001854.4(COL11A1):c.894G>A (p.Thr298=)
NM_001854.4(COL11A1):c.894G>C (p.Thr298=)
NM_001854.4(COL11A1):c.897+15G>C rs1459620377
NM_001854.4(COL11A1):c.897+17G>T
NM_001854.4(COL11A1):c.897+18C>G
NM_001854.4(COL11A1):c.897+200G>A rs12750147
NM_001854.4(COL11A1):c.897+20T>G
NM_001854.4(COL11A1):c.897+3A>T
NM_001854.4(COL11A1):c.897+5A>T rs1667500095
NM_001854.4(COL11A1):c.898-186G>A rs1667461680
NM_001854.4(COL11A1):c.898-186G>T rs1667461680
NM_001854.4(COL11A1):c.898-186del rs2101962817
NM_001854.4(COL11A1):c.898-187G>T rs768645535
NM_001854.4(COL11A1):c.898-196A>G rs2101962872
NM_001854.4(COL11A1):c.898-201A>G rs138054633
NM_001854.4(COL11A1):c.898-20T>A rs2101961925
NM_001854.4(COL11A1):c.898-216G>A
NM_001854.4(COL11A1):c.898-259dup rs2101963390
NM_001854.4(COL11A1):c.898-296C>G
NM_001854.4(COL11A1):c.899C>G (p.Ala300Gly) rs2101961844
NM_001854.4(COL11A1):c.914A>G (p.Asp305Gly)
NM_001854.4(COL11A1):c.915T>C (p.Asp305=)
NM_001854.4(COL11A1):c.923A>G (p.Glu308Gly)
NM_001854.4(COL11A1):c.928A>C (p.Asn310His)
NM_001854.4(COL11A1):c.92G>C (p.Arg31Thr)
NM_001854.4(COL11A1):c.940A>G (p.Met314Val)
NM_001854.4(COL11A1):c.955A>G (p.Thr319Ala) rs2101961446
NM_001854.4(COL11A1):c.957A>G (p.Thr319=)
NM_001854.4(COL11A1):c.960A>G (p.Glu320=)
NM_001854.4(COL11A1):c.961G>T (p.Ala321Ser)
NM_001854.4(COL11A1):c.971A>G (p.His324Arg)
NM_001854.4(COL11A1):c.977C>G (p.Ser326Cys)
NM_001854.4(COL11A1):c.982A>G (p.Thr328Ala)
NM_001854.4(COL11A1):c.983C>A (p.Thr328Lys) rs1157354380
NM_001854.4(COL11A1):c.986A>G (p.Asn329Ser)
NM_001854.4(COL11A1):c.990+11T>C
NM_001854.4(COL11A1):c.990+14A>G
NM_001854.4(COL11A1):c.990+16A>G
NM_001854.4(COL11A1):c.990+1G>T
NM_001854.4(COL11A1):c.990+8G>T rs756299328
NM_001854.4(COL11A1):c.991-12T>C rs766245051
NM_001854.4(COL11A1):c.991-14del rs768258098
NM_001854.4(COL11A1):c.991-16C>T
NM_001854.4(COL11A1):c.991-52_991-51del rs111390852
NM_001854.4(COL11A1):c.991C>T (p.Pro331Ser)
NM_001854.4(COL11A1):c.9G>T (p.Pro3=) rs1445323984
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC

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