ClinVar Miner

List of variants in gene COL11A1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 769
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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.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.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.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.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.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.1489-5C>A rs370997745 0.00029
NM_001854.4(COL11A1):c.-50A>G rs369810404 0.00026
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.4594C>G (p.Pro1532Ala) rs140954784 0.00019
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
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.1246-6C>T rs199855455 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.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.3492+3G>A rs372941709 0.00013
NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro) rs370534700 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.907G>A (p.Val303Ile) rs369925361 0.00012
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.4935T>C (p.Gly1645=) rs369265343 0.00011
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00009
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) rs192842970 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.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.1138G>A (p.Glu380Lys) rs372387693 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.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.1899+3A>G rs374676938 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.3600+8G>A rs188045535 0.00006
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=) rs767276283 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.4177G>A (p.Gly1393Ser) rs767950147 0.00005
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.1926A>G (p.Arg642=) rs142506188 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+18G>A rs750906344 0.00004
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 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.3227G>A (p.Arg1076His) rs148464130 0.00004
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val) rs138507620 0.00004
NM_001854.4(COL11A1):c.4141-8T>A rs373760183 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.784G>A (p.Ala262Thr) rs777664906 0.00004
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu) rs945959591 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.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.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.2754+50A>C rs202051513 0.00003
NM_001854.4(COL11A1):c.2925C>T (p.Thr975=) rs369136682 0.00003
NM_001854.4(COL11A1):c.3344C>T (p.Pro1115Leu) rs958678153 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.426C>T (p.His142=) rs561435432 0.00003
NM_001854.4(COL11A1):c.4561G>A (p.Ala1521Thr) rs769920499 0.00003
NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=) rs770392400 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.1309-7G>A rs748684225 0.00002
NM_001854.4(COL11A1):c.1654A>G (p.Lys552Glu) rs1377225041 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.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.3025-6C>T rs780046337 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.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.898-272A>C rs148225616 0.00002
NM_001854.4(COL11A1):c.898-285G>C rs370745781 0.00002
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter) rs776004614 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.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.1211G>A (p.Gly404Asp) rs748335883 0.00001
NM_001854.4(COL11A1):c.1321G>A (p.Glu441Lys) rs995254814 0.00001
NM_001854.4(COL11A1):c.1413+6T>C rs1337013861 0.00001
NM_001854.4(COL11A1):c.1493G>A (p.Arg498His) rs545363972 0.00001
NM_001854.4(COL11A1):c.1624C>T (p.Pro542Ser) rs745841296 0.00001
NM_001854.4(COL11A1):c.1708C>T (p.Pro570Ser) rs1194226000 0.00001
NM_001854.4(COL11A1):c.1744C>T (p.Pro582Ser) rs746192125 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.1899+16T>G rs767808576 0.00001
NM_001854.4(COL11A1):c.191G>A (p.Arg64Lys) rs1272896075 0.00001
NM_001854.4(COL11A1):c.2058G>T (p.Glu686Asp) rs369536049 0.00001
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu) rs754657948 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.2513G>A (p.Gly838Glu) rs372419698 0.00001
NM_001854.4(COL11A1):c.2556+14A>G rs1365339245 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.2645G>A (p.Arg882His) rs779869745 0.00001
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602 0.00001
NM_001854.4(COL11A1):c.275G>T (p.Gly92Val) rs1372284079 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.2926G>A (p.Gly976Ser) rs763187998 0.00001
NM_001854.4(COL11A1):c.2951G>A (p.Arg984His) rs147271219 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.3137G>A (p.Gly1046Glu) rs773157346 0.00001
NM_001854.4(COL11A1):c.3185G>A (p.Arg1062His) rs1234848212 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.350C>G (p.Ser117Cys) rs143396707 0.00001
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097 0.00001
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser) rs778311240 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.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.4363C>T (p.Pro1455Ser) rs184965786 0.00001
NM_001854.4(COL11A1):c.437C>T (p.Pro146Leu) rs543199135 0.00001
NM_001854.4(COL11A1):c.4411G>A (p.Gly1471Ser) rs1057522949 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.4526A>C (p.Gln1509Pro) rs1057521422 0.00001
NM_001854.4(COL11A1):c.4545A>G (p.Lys1515=) rs575231157 0.00001
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg) rs146997967 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.4677A>G (p.Glu1559=) rs202048103 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.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.4859-19A>G rs146179957 0.00001
NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp) rs780211105 0.00001
NM_001854.4(COL11A1):c.502G>A (p.Ala168Thr) rs150144437 0.00001
NM_001854.4(COL11A1):c.511G>A (p.Val171Met) rs751182532 0.00001
NM_001854.4(COL11A1):c.534G>C (p.Met178Ile) rs758827956 0.00001
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) rs925433052 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.862C>A (p.Pro288Thr) rs748315186 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.973G>T (p.Val325Phe) rs746633493 0.00001
NM_001854.4(COL11A1):c.990+11T>G rs750665036 0.00001
GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1
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.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.1081G>A (p.Glu361Lys)
NM_001854.4(COL11A1):c.1155A>C (p.Glu385Asp) rs1057524404
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer) rs1343199316
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.121G>A (p.Val41Ile)
NM_001854.4(COL11A1):c.1232T>C (p.Ile411Thr)
NM_001854.4(COL11A1):c.1245C>A (p.Ser415Arg) rs371490794
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.1246-70del rs35291481
NM_001854.4(COL11A1):c.1246-9A>C rs375455188
NM_001854.4(COL11A1):c.1246A>G (p.Ile416Val) rs1667095674
NM_001854.4(COL11A1):c.1258G>A (p.Gly420Ser) rs2101938369
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=) rs760330151
NM_001854.4(COL11A1):c.1308+20C>A rs750685039
NM_001854.4(COL11A1):c.1324G>A (p.Gly442Arg)
NM_001854.4(COL11A1):c.1350+1G>A rs2101919778
NM_001854.4(COL11A1):c.1351-169del rs141009352
NM_001854.4(COL11A1):c.1360G>T (p.Gly454Cys) rs2101915053
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.1491C>G (p.Phe497Leu) rs755704308
NM_001854.4(COL11A1):c.1550A>C (p.Gln517Pro) rs2101899405
NM_001854.4(COL11A1):c.1570C>T (p.Arg524Trp)
NM_001854.4(COL11A1):c.1573-15T>C rs772291375
NM_001854.4(COL11A1):c.1573-204_1573-203del rs557530220
NM_001854.4(COL11A1):c.1629+137dup rs35117641
NM_001854.4(COL11A1):c.162del (p.Ser55fs) rs1571238944
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1635G>A (p.Gly545=) rs746478999
NM_001854.4(COL11A1):c.1657G>T (p.Gly553Cys) rs2101869508
NM_001854.4(COL11A1):c.1678C>G (p.Pro560Ala)
NM_001854.4(COL11A1):c.1683+3A>G rs2101869327
NM_001854.4(COL11A1):c.1683+84dup rs79750249
NM_001854.4(COL11A1):c.1683G>T (p.Gln561His) rs2101869336
NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp) rs886039743
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.1718C>T (p.Thr573Met) rs202011565
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.1739G>A (p.Gly580Asp)
NM_001854.4(COL11A1):c.1745C>T (p.Pro582Leu)
NM_001854.4(COL11A1):c.1778A>C (p.Glu593Ala)
NM_001854.4(COL11A1):c.1792-10_1792-8del rs2101851346
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[8] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.1845+3A>T rs2101850931
NM_001854.4(COL11A1):c.1846-258_1846-255del rs147077472
NM_001854.4(COL11A1):c.1894A>G (p.Met632Val) rs2101843713
NM_001854.4(COL11A1):c.1900G>A (p.Gly634Arg) rs2101842703
NM_001854.4(COL11A1):c.1913A>T (p.Glu638Val)
NM_001854.4(COL11A1):c.1945-19C>T rs1571000550
NM_001854.4(COL11A1):c.1945-296G>T rs116296541
NM_001854.4(COL11A1):c.1945-33_1945-32del rs370445089
NM_001854.4(COL11A1):c.1945-43dup rs370445089
NM_001854.4(COL11A1):c.1945-7C>A rs201424786
NM_001854.4(COL11A1):c.194_197del (p.Lys65fs) rs2102324115
NM_001854.4(COL11A1):c.1961T>C (p.Leu654Pro) rs1131691449
NM_001854.4(COL11A1):c.1998+4_1998+5delinsAT rs2101835613
NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr) rs767790003
NM_001854.4(COL11A1):c.2009G>C (p.Gly670Ala) rs2101833015
NM_001854.4(COL11A1):c.2011G>T (p.Val671Leu) rs201602988
NM_001854.4(COL11A1):c.2024C>T (p.Pro675Leu) rs2101832656
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=) rs530187653
NM_001854.4(COL11A1):c.2098-4A>G rs759906097
NM_001854.4(COL11A1):c.2143-263del rs71592254
NM_001854.4(COL11A1):c.2197-10C>T rs1057521170
NM_001854.4(COL11A1):c.2241+5G>C rs2101800665
NM_001854.4(COL11A1):c.2241+5G>T rs2101800665
NM_001854.4(COL11A1):c.2284C>G (p.Arg762Gly)
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2296-19C>T rs776330050
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.2386G>T (p.Gly796Cys) rs2101750154
NM_001854.4(COL11A1):c.2394+206T>C rs113281880
NM_001854.4(COL11A1):c.2462C>G (p.Pro821Arg) rs2101738235
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.2502+250dup rs34440236
NM_001854.4(COL11A1):c.2502+271G>A rs115389602
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val) rs1663311706
NM_001854.4(COL11A1):c.2551C>T (p.Pro851Ser)
NM_001854.4(COL11A1):c.2556+135_2556+136del rs146402276
NM_001854.4(COL11A1):c.2556+332A>G rs150296583
NM_001854.4(COL11A1):c.2557-8T>C rs572637910
NM_001854.4(COL11A1):c.2611-106ATGA[6] rs148099821
NM_001854.4(COL11A1):c.2638G>A (p.Gly880Ser)
NM_001854.4(COL11A1):c.2656-4G>T rs1553224423
NM_001854.4(COL11A1):c.2662C>T (p.Arg888Ter) rs748815162
NM_001854.4(COL11A1):c.268T>A (p.Phe90Ile)
NM_001854.4(COL11A1):c.2724C>T (p.Gly908=) rs201972285
NM_001854.4(COL11A1):c.272C>G (p.Pro91Arg) rs1672517531
NM_001854.4(COL11A1):c.2739C>T (p.Gly913=) rs1553224335
NM_001854.4(COL11A1):c.274+194_274+198del rs141045560
NM_001854.4(COL11A1):c.274+5A>G rs1571238473
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.2755-2A>G rs2101653580
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.2808+1G>A rs1553223152
NM_001854.4(COL11A1):c.2809-43_2809-40del rs143935916
NM_001854.4(COL11A1):c.2862+151TA[6] rs10639471
NM_001854.4(COL11A1):c.2921C>G (p.Pro974Arg) rs78046647
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=) rs368868551
NM_001854.4(COL11A1):c.2983G>A (p.Glu995Lys) rs1661034735
NM_001854.4(COL11A1):c.3008G>C (p.Gly1003Ala)
NM_001854.4(COL11A1):c.3019G>A (p.Ala1007Thr)
NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=)
NM_001854.4(COL11A1):c.3168+1G>T rs886042653
NM_001854.4(COL11A1):c.3168+9G>A rs1553218164
NM_001854.4(COL11A1):c.3169-13T>C rs182777459
NM_001854.4(COL11A1):c.3169-278_3169-277del rs146566120
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)
NM_001854.4(COL11A1):c.3185G>T (p.Arg1062Leu)
NM_001854.4(COL11A1):c.31A>G (p.Lys11Glu)
NM_001854.4(COL11A1):c.3219A>G (p.Leu1073=) rs759784635
NM_001854.4(COL11A1):c.3226C>T (p.Arg1076Cys) rs1659348330
NM_001854.4(COL11A1):c.3251G>A (p.Gly1084Asp)
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.3294A>G (p.Gln1098=) rs1553210866
NM_001854.4(COL11A1):c.3312T>A (p.Asp1104Glu)
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3394G>A (p.Gly1132Ser)
NM_001854.4(COL11A1):c.3429G>C (p.Lys1143Asn)
NM_001854.4(COL11A1):c.3438+5G>A
NM_001854.4(COL11A1):c.3492+202_3492+205del rs138714814
NM_001854.4(COL11A1):c.3495A>G (p.Gly1165=) rs1553208812
NM_001854.4(COL11A1):c.352A>G (p.Ile118Val)
NM_001854.4(COL11A1):c.3580C>T (p.Pro1194Ser)
NM_001854.4(COL11A1):c.3600+81dup rs113900968
NM_001854.4(COL11A1):c.3600+87del rs113900968
NM_001854.4(COL11A1):c.3601-219A>C rs7553464
NM_001854.4(COL11A1):c.3601-303G>T rs7539682
NM_001854.4(COL11A1):c.3601-46del rs147848946
NM_001854.4(COL11A1):c.3654+91_3654+92del rs34112708
NM_001854.4(COL11A1):c.3655-2A>G
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.3708+2T>C rs2101074452
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs) rs2101066868
NM_001854.4(COL11A1):c.3748G>A (p.Gly1250Ser) rs2101066582
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=) rs144729226
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+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.3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-13dup rs34228277
NM_001854.4(COL11A1):c.3817-14_3817-13dup rs34228277
NM_001854.4(COL11A1):c.3889G>A (p.Gly1297Arg)
NM_001854.4(COL11A1):c.3925-10G>T rs773007335
NM_001854.4(COL11A1):c.3950C>G (p.Pro1317Arg) rs147993467
NM_001854.4(COL11A1):c.3978+71dup rs145342760
NM_001854.4(COL11A1):c.3979-10C>T rs1553200898
NM_001854.4(COL11A1):c.4028A>C (p.Gln1343Pro)
NM_001854.4(COL11A1):c.4032+116del rs148757066
NM_001854.4(COL11A1):c.4056G>T (p.Glu1352Asp)
NM_001854.4(COL11A1):c.4072C>T (p.Pro1358Ser) rs2101016676
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter) rs755987732
NM_001854.4(COL11A1):c.4087-145C>T rs1676499
NM_001854.4(COL11A1):c.4091C>T (p.Pro1364Leu)
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.4136C>T (p.Ala1379Val) rs764897552
NM_001854.4(COL11A1):c.4140+10A>G rs187171126
NM_001854.4(COL11A1):c.4140+3A>G
NM_001854.4(COL11A1):c.4173A>T (p.Lys1391Asn) rs753496492
NM_001854.4(COL11A1):c.4180C>A (p.Pro1394Thr) rs2100923228
NM_001854.4(COL11A1):c.4214G>A (p.Gly1405Asp) rs1652764880
NM_001854.4(COL11A1):c.4302+225dup rs140129829
NM_001854.4(COL11A1):c.4303-13del rs35232764
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.4303-22T>G rs74108036
NM_001854.4(COL11A1):c.4324C>T (p.Leu1442Phe)
NM_001854.4(COL11A1):c.4356+220G>T rs186749898
NM_001854.4(COL11A1):c.4357-314_4357-310del rs201893127
NM_001854.4(COL11A1):c.4382T>C (p.Ile1461Thr) rs1651477480
NM_001854.4(COL11A1):c.4453A>G (p.Lys1485Glu) rs2100857470
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.4518+5G>A rs2100853342
NM_001854.4(COL11A1):c.4534A>G (p.Lys1512Glu) rs1651341768
NM_001854.4(COL11A1):c.4536G>A (p.Lys1512=)
NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp) rs1553193913
NM_001854.4(COL11A1):c.4552A>C (p.Thr1518Pro) rs1057523166
NM_001854.4(COL11A1):c.4603_4604delinsCT (p.Ser1535Leu) rs2100851197
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.4660A>C (p.Thr1554Pro) rs2100840975
NM_001854.4(COL11A1):c.4660dup (p.Thr1554fs) rs1570630126
NM_001854.4(COL11A1):c.4717T>G (p.Ser1573Ala)
NM_001854.4(COL11A1):c.4771G>A (p.Glu1591Lys)
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)
NM_001854.4(COL11A1):c.4819T>C (p.Cys1607Arg) rs2100839621
NM_001854.4(COL11A1):c.4858+287G>A rs1463048
NM_001854.4(COL11A1):c.4865A>G (p.Tyr1622Cys) rs2101026386
NM_001854.4(COL11A1):c.4886G>T (p.Gly1629Val) rs372504909
NM_001854.4(COL11A1):c.4903T>C (p.Phe1635Leu)
NM_001854.4(COL11A1):c.4961A>C (p.Lys1654Thr) rs2101025808
NM_001854.4(COL11A1):c.4971+102T>A rs74108030
NM_001854.4(COL11A1):c.4972-263G>T rs112098344
NM_001854.4(COL11A1):c.497G>A (p.Arg166Gln) rs142753283
NM_001854.4(COL11A1):c.4991C>A (p.Pro1664Gln) rs1650268405
NM_001854.4(COL11A1):c.5275-178A>C rs116234463
NM_001854.4(COL11A1):c.5292A>C (p.Glu1764Asp)
NM_001854.4(COL11A1):c.5294del (p.Lys1765fs) rs2100996466
NM_001854.4(COL11A1):c.52A>G (p.Thr18Ala) rs114630202
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=) rs532113782
NM_001854.4(COL11A1):c.5398G>T (p.Gly1800Cys)
NM_001854.4(COL11A1):c.5412T>A (p.Phe1804Leu)
NM_001854.4(COL11A1):c.541G>A (p.Asp181Asn)
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.565C>A (p.Pro189Thr) rs201557468
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_001854.4(COL11A1):c.611C>A (p.Thr204Lys) rs199595073
NM_001854.4(COL11A1):c.612G>T (p.Thr204=) rs545867472
NM_001854.4(COL11A1):c.623C>T (p.Thr208Ile)
NM_001854.4(COL11A1):c.651+14C>T rs1553252290
NM_001854.4(COL11A1):c.652-17T>G rs555770298
NM_001854.4(COL11A1):c.652-18_652-16dup rs36076089
NM_001854.4(COL11A1):c.652-6_652-5insTTC rs749687230
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
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.709G>A (p.Glu237Lys) rs2101995328
NM_001854.4(COL11A1):c.781-292_781-291del rs67985164
NM_001854.4(COL11A1):c.781-5T>G rs1667517373
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr) rs372319750
NM_001854.4(COL11A1):c.81C>T (p.Leu27=) rs1027288806
NM_001854.4(COL11A1):c.828A>T (p.Ala276=) rs764926559
NM_001854.4(COL11A1):c.897+200G>A rs12750147
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.898-216G>A
NM_001854.4(COL11A1):c.898-259dup rs2101963390
NM_001854.4(COL11A1):c.898-296C>G
NM_001854.4(COL11A1):c.991-14del rs768258098
NM_001854.4(COL11A1):c.991-52_991-51del rs111390852

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