NM_001854.4(COL11A1):c.2043+8G>A
|
rs2622875
|
0.04635
|
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.2197-240C>T
|
rs140604412
|
0.02151
|
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.275-113A>C
|
rs12133536
|
0.01998
|
NM_001854.4(COL11A1):c.2197-262A>G
|
rs71664953
|
0.01972
|
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.651+61A>G
|
rs77713323
|
0.01560
|
NM_001854.4(COL11A1):c.489-99C>T
|
rs116786201
|
0.01556
|
NM_001854.4(COL11A1):c.651+309G>A
|
rs114450408
|
0.01554
|
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.4303-21T>A
|
rs181904530
|
0.01437
|
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.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.3277-63T>C
|
rs140740778
|
0.00966
|
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.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.*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.3276+152G>T
|
rs189834282
|
0.00382
|
NM_001854.4(COL11A1):c.2917-88G>A
|
rs112756367
|
0.00346
|
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.4416C>A (p.Asp1472Glu)
|
rs55821405
|
0.00284
|
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val)
|
rs145901197
|
0.00274
|
NM_001854.4(COL11A1):c.4302+48A>T
|
rs114611626
|
0.00272
|
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.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.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.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.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.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.4971+11A>G
|
rs995074235
|
0.00013
|
NM_001854.4(COL11A1):c.882A>G (p.Thr294=)
|
rs201141662
|
0.00013
|
NM_001854.4(COL11A1):c.4140+13del
|
rs781736900
|
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.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.1506T>C (p.Asp502=)
|
rs141770006
|
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.1032G>A (p.Thr344=)
|
rs367998577
|
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.*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.3229C>A (p.Pro1077Thr)
|
rs144562769
|
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.1684-7G>C
|
rs201494436
|
0.00006
|
NM_001854.4(COL11A1):c.1798C>A (p.Arg600=)
|
rs747461816
|
0.00006
|
NM_001854.4(COL11A1):c.1833C>T (p.Asp611=)
|
rs757133349
|
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.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.4193A>C (p.Gln1398Pro)
|
rs775587076
|
0.00006
|
NM_001854.4(COL11A1):c.1683+20C>G
|
rs373143275
|
0.00005
|
NM_001854.4(COL11A1):c.2168C>A (p.Ala723Asp)
|
rs758354863
|
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.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.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.3025-11A>G
|
rs745667185
|
0.00004
|
NM_001854.4(COL11A1):c.3230C>T (p.Pro1077Leu)
|
rs373734529
|
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.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.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.913G>T (p.Asp305Tyr)
|
rs779346604
|
0.00004
|
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn)
|
rs199942159
|
0.00003
|
NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser)
|
rs1156500992
|
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.1998+11C>T
|
rs375664445
|
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.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.3779C>A (p.Ala1260Glu)
|
rs750838060
|
0.00003
|
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg)
|
rs986400534
|
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.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.1051C>A (p.Gln351Lys)
|
rs761451204
|
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.1845+11T>G
|
rs201513205
|
0.00002
|
NM_001854.4(COL11A1):c.2520A>G (p.Pro840=)
|
rs942911563
|
0.00002
|
NM_001854.4(COL11A1):c.2813C>G (p.Pro938Arg)
|
rs780040764
|
0.00002
|
NM_001854.4(COL11A1):c.3287G>C (p.Gly1096Ala)
|
rs772562171
|
0.00002
|
NM_001854.4(COL11A1):c.3493-5T>G
|
rs746535602
|
0.00002
|
NM_001854.4(COL11A1):c.4233C>T (p.Gly1411=)
|
rs139726483
|
0.00002
|
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=)
|
rs762511819
|
0.00002
|
NM_001854.4(COL11A1):c.4560C>T (p.Pro1520=)
|
rs780129997
|
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.4761A>G (p.Lys1587=)
|
rs375667862
|
0.00002
|
NM_001854.4(COL11A1):c.483C>T (p.Asp161=)
|
rs557000127
|
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.81C>A (p.Leu27=)
|
rs1027288806
|
0.00002
|
NM_001854.4(COL11A1):c.822G>A (p.Gly274=)
|
rs371943463
|
0.00002
|
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.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.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.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.1414-9T>A
|
rs794727062
|
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.1541C>T (p.Ala514Val)
|
rs374636016
|
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.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.1899+16T>G
|
rs767808576
|
0.00001
|
NM_001854.4(COL11A1):c.1899+8A>G
|
rs372864068
|
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.2044-15A>G
|
rs1321602196
|
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.2187T>A (p.Asp729Glu)
|
rs754657948
|
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.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.2537C>T (p.Pro846Leu)
|
rs1308067070
|
0.00001
|
NM_001854.4(COL11A1):c.2556+14A>G
|
rs1365339245
|
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.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.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.2916+14C>G
|
rs527387345
|
0.00001
|
NM_001854.4(COL11A1):c.2917-10T>C
|
rs1486230467
|
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.3068C>A (p.Ala1023Glu)
|
rs1040168773
|
0.00001
|
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys)
|
rs377320274
|
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.3210A>G (p.Pro1070=)
|
rs1413151845
|
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.3385-19T>A
|
rs754980052
|
0.00001
|
NM_001854.4(COL11A1):c.3387T>C (p.Gly1129=)
|
rs533984546
|
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.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.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.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.3792G>A (p.Gly1264=)
|
rs372122122
|
0.00001
|
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp)
|
rs780739712
|
0.00001
|
NM_001854.4(COL11A1):c.3911C>G (p.Pro1304Arg)
|
rs1416828428
|
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.4033-10C>T
|
rs763204252
|
0.00001
|
NM_001854.4(COL11A1):c.4033-7T>C
|
rs765726939
|
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.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.4388C>A (p.Pro1463His)
|
rs202194245
|
0.00001
|
NM_001854.4(COL11A1):c.4425C>G (p.Leu1475=)
|
rs376841140
|
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.4545A>G (p.Lys1515=)
|
rs575231157
|
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.4650C>T (p.Ser1550=)
|
rs767709700
|
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.4711G>T (p.Asp1571Tyr)
|
rs1277867710
|
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.4858+15C>T
|
rs1054091121
|
0.00001
|
NM_001854.4(COL11A1):c.4859-19A>G
|
rs146179957
|
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.4971+19T>A
|
rs757107063
|
0.00001
|
NM_001854.4(COL11A1):c.4972-15G>T
|
rs774357717
|
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.5304T>C (p.Ile1768=)
|
rs1036630733
|
0.00001
|
NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg)
|
rs1351190778
|
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.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.924A>G (p.Glu308=)
|
rs1010235940
|
0.00001
|
NM_001854.4(COL11A1):c.933T>C (p.Tyr311=)
|
rs762903488
|
0.00001
|
NM_001854.4(COL11A1):c.97G>A (p.Val33Ile)
|
rs755307749
|
0.00001
|
NM_001854.4(COL11A1):c.990+11T>G
|
rs750665036
|
0.00001
|
NM_001854.4(COL11A1):c.990+8G>A
|
rs756299328
|
0.00001
|
NM_001854.4(COL11A1):c.1021G>A (p.Glu341Lys)
|
|
|
NM_001854.4(COL11A1):c.1027C>T (p.Leu343=)
|
|
|
NM_001854.4(COL11A1):c.1029A>G (p.Leu343=)
|
|
|
NM_001854.4(COL11A1):c.106+12T>C
|
|
|
NM_001854.4(COL11A1):c.106+17T>A
|
rs2102452869
|
|
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro)
|
rs141036911
|
|
NM_001854.4(COL11A1):c.1068G>A (p.Glu356=)
|
|
|
NM_001854.4(COL11A1):c.1069G>A (p.Asp357Asn)
|
|
|
NM_001854.4(COL11A1):c.107-17G>T
|
|
|
NM_001854.4(COL11A1):c.107-20A>C
|
|
|
NM_001854.4(COL11A1):c.107-20del
|
|
|
NM_001854.4(COL11A1):c.107-27G>T
|
rs116458923
|
|
NM_001854.4(COL11A1):c.1070A>T (p.Asp357Val)
|
|
|
NM_001854.4(COL11A1):c.10T>C (p.Trp4Arg)
|
|
|
NM_001854.4(COL11A1):c.110C>T (p.Ala37Val)
|
|
|
NM_001854.4(COL11A1):c.113C>T (p.Pro38Leu)
|
|
|
NM_001854.4(COL11A1):c.1140A>G (p.Glu380=)
|
|
|
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.1191T>C (p.Pro397=)
|
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.1213G>T (p.Val405Leu)
|
|
|
NM_001854.4(COL11A1):c.1224A>C (p.Glu408Asp)
|
|
|
NM_001854.4(COL11A1):c.1224A>G (p.Glu408=)
|
|
|
NM_001854.4(COL11A1):c.1235C>T (p.Thr412Ile)
|
|
|
NM_001854.4(COL11A1):c.1239A>C (p.Glu413Asp)
|
|
|
NM_001854.4(COL11A1):c.1245+11dup
|
rs2101944799
|
|
NM_001854.4(COL11A1):c.1245+19C>T
|
|
|
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.1246-6C>A
|
rs199855455
|
|
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.1256A>G (p.His419Arg)
|
|
|
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.1301T>C (p.Val434Ala)
|
|
|
NM_001854.4(COL11A1):c.1308+12T>C
|
|
|
NM_001854.4(COL11A1):c.1308+16A>G
|
|
|
NM_001854.4(COL11A1):c.1308+20C>A
|
rs750685039
|
|
NM_001854.4(COL11A1):c.1309-14T>C
|
|
|
NM_001854.4(COL11A1):c.1309-15C>A
|
|
|
NM_001854.4(COL11A1):c.1309-20G>T
|
|
|
NM_001854.4(COL11A1):c.1309-4A>T
|
|
|
NM_001854.4(COL11A1):c.1320C>G (p.Val440=)
|
|
|
NM_001854.4(COL11A1):c.132A>G (p.Ala44=)
|
|
|
NM_001854.4(COL11A1):c.1337C>T (p.Pro446Leu)
|
|
|
NM_001854.4(COL11A1):c.133C>G (p.Leu45Val)
|
|
|
NM_001854.4(COL11A1):c.1350+12T>G
|
|
|
NM_001854.4(COL11A1):c.1350+19del
|
|
|
NM_001854.4(COL11A1):c.1351-15T>C
|
|
|
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.1351-18T>C
|
|
|
NM_001854.4(COL11A1):c.1351-19_1351-17del
|
|
|
NM_001854.4(COL11A1):c.1374A>G (p.Leu458=)
|
|
|
NM_001854.4(COL11A1):c.1380C>T (p.Gly460=)
|
|
|
NM_001854.4(COL11A1):c.1388G>T (p.Gly463Val)
|
|
|
NM_001854.4(COL11A1):c.1392C>T (p.Pro464=)
|
|
|
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.1411A>C (p.Arg471=)
|
rs1342033027
|
|
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.1414-5T>C
|
rs2101905101
|
|
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.1467T>C (p.Pro489=)
|
|
|
NM_001854.4(COL11A1):c.1477T>C (p.Leu493=)
|
|
|
NM_001854.4(COL11A1):c.1479G>A (p.Leu493=)
|
rs2101904743
|
|
NM_001854.4(COL11A1):c.1488+10T>G
|
rs2101904606
|
|
NM_001854.4(COL11A1):c.1488+20A>T
|
|
|
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.1489-15G>A
|
|
|
NM_001854.4(COL11A1):c.1489-8C>T
|
|
|
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.1515A>G (p.Lys505=)
|
rs2101899581
|
|
NM_001854.4(COL11A1):c.1537G>C (p.Glu513Gln)
|
rs1288240581
|
|
NM_001854.4(COL11A1):c.1548T>G (p.Ala516=)
|
|
|
NM_001854.4(COL11A1):c.1562A>G (p.Gln521Arg)
|
rs770438816
|
|
NM_001854.4(COL11A1):c.156G>A (p.Glu52=)
|
|
|
NM_001854.4(COL11A1):c.1572+13A>T
|
rs1215755446
|
|
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.1573-204_1573-203del
|
rs557530220
|
|
NM_001854.4(COL11A1):c.1573-5T>C
|
|
|
NM_001854.4(COL11A1):c.1573-9G>A
|
|
|
NM_001854.4(COL11A1):c.1581G>C (p.Leu527=)
|
|
|
NM_001854.4(COL11A1):c.1599A>C (p.Pro533=)
|
|
|
NM_001854.4(COL11A1):c.1599A>G (p.Pro533=)
|
|
|
NM_001854.4(COL11A1):c.1611T>C (p.Thr537=)
|
|
|
NM_001854.4(COL11A1):c.1623T>C (p.Gly541=)
|
|
|
NM_001854.4(COL11A1):c.1629+12C>A
|
|
|
NM_001854.4(COL11A1):c.1629+13A>G
|
rs889072485
|
|
NM_001854.4(COL11A1):c.1629+14A>G
|
|
|
NM_001854.4(COL11A1):c.162A>T (p.Ile54=)
|
|
|
NM_001854.4(COL11A1):c.1630-14C>T
|
|
|
NM_001854.4(COL11A1):c.1630-16C>T
|
rs148114270
|
|
NM_001854.4(COL11A1):c.1630-9T>C
|
|
|
NM_001854.4(COL11A1):c.1635G>C (p.Gly545=)
|
|
|
NM_001854.4(COL11A1):c.1635G>T (p.Gly545=)
|
|
|
NM_001854.4(COL11A1):c.1637C>A (p.Pro546His)
|
|
|
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+84dup
|
rs79750249
|
|
NM_001854.4(COL11A1):c.1684-15G>A
|
rs1665610425
|
|
NM_001854.4(COL11A1):c.1695C>T (p.Gly565=)
|
|
|
NM_001854.4(COL11A1):c.1698C>A (p.Val566=)
|
|
|
NM_001854.4(COL11A1):c.1698C>G (p.Val566=)
|
|
|
NM_001854.4(COL11A1):c.1716A>G (p.Pro572=)
|
|
|
NM_001854.4(COL11A1):c.1719G>A (p.Thr573=)
|
|
|
NM_001854.4(COL11A1):c.1725A>G (p.Lys575=)
|
|
|
NM_001854.4(COL11A1):c.1731A>T (p.Gly577=)
|
rs768140429
|
|
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+56ATTT[8]
|
rs59259783
|
|
NM_001854.4(COL11A1):c.1737+7C>A
|
|
|
NM_001854.4(COL11A1):c.1738-14G>C
|
|
|
NM_001854.4(COL11A1):c.1742G>T (p.Arg581Leu)
|
rs769449348
|
|
NM_001854.4(COL11A1):c.174G>A (p.Thr58=)
|
rs530441485
|
|
NM_001854.4(COL11A1):c.1758A>T (p.Gly586=)
|
|
|
NM_001854.4(COL11A1):c.1773A>G (p.Pro591=)
|
rs1571009440
|
|
NM_001854.4(COL11A1):c.1786G>A (p.Ala596Thr)
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NM_001854.4(COL11A1):c.1791+13C>T
|
|
|
NM_001854.4(COL11A1):c.1791+18T>C
|
|
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NM_001854.4(COL11A1):c.1792-10_1792-8del
|
rs2101851346
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NM_001854.4(COL11A1):c.1792-15A>G
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NM_001854.4(COL11A1):c.1792-19G>C
|
rs2101851511
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NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
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NM_001854.4(COL11A1):c.1792-39ATG[12]
|
rs71752747
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NM_001854.4(COL11A1):c.1792-39ATG[13]
|
rs71752747
|
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NM_001854.4(COL11A1):c.1792-39ATG[14]
|
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NM_001854.4(COL11A1):c.1792-39ATG[4]
|
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NM_001854.4(COL11A1):c.1792-39ATG[5]
|
rs71752747
|
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NM_001854.4(COL11A1):c.1792-39ATG[6]
|
rs71752747
|
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NM_001854.4(COL11A1):c.1792-39ATG[7]
|
rs71752747
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NM_001854.4(COL11A1):c.1794A>T (p.Gly598=)
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|
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NM_001854.4(COL11A1):c.1822C>T (p.Leu608=)
|
rs1571008380
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NM_001854.4(COL11A1):c.1831G>A (p.Asp611Asn)
|
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NM_001854.4(COL11A1):c.1845+11T>A
|
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NM_001854.4(COL11A1):c.1845+14A>G
|
rs369345126
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NM_001854.4(COL11A1):c.1845+19T>C
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NM_001854.4(COL11A1):c.1845+19T>G
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NM_001854.4(COL11A1):c.1846-11T>C
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NM_001854.4(COL11A1):c.1846-11T>G
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NM_001854.4(COL11A1):c.1846-15G>T
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rs2101844092
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NM_001854.4(COL11A1):c.1846-20T>C
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NM_001854.4(COL11A1):c.1846-5A>G
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NM_001854.4(COL11A1):c.185C>G (p.Thr62Arg)
|
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NM_001854.4(COL11A1):c.1881T>C (p.Pro627=)
|
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NM_001854.4(COL11A1):c.1887T>C (p.Asp629=)
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NM_001854.4(COL11A1):c.1899+12C>T
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NM_001854.4(COL11A1):c.1899+15C>A
|
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NM_001854.4(COL11A1):c.1899+15C>T
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NM_001854.4(COL11A1):c.1900-11G>A
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rs747685749
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NM_001854.4(COL11A1):c.1900-12T>C
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NM_001854.4(COL11A1):c.1900-16A>G
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NM_001854.4(COL11A1):c.1900-17C>A
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NM_001854.4(COL11A1):c.1900-9C>T
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NM_001854.4(COL11A1):c.1908T>C (p.Asp636=)
|
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NM_001854.4(COL11A1):c.1922C>G (p.Pro641Arg)
|
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NM_001854.4(COL11A1):c.1926A>T (p.Arg642Ser)
|
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NM_001854.4(COL11A1):c.1944+14T>A
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NM_001854.4(COL11A1):c.1944+20_1944+25del
|
rs1247011728
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NM_001854.4(COL11A1):c.1945-11T>C
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rs1665299209
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NM_001854.4(COL11A1):c.1945-14T>C
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NM_001854.4(COL11A1):c.1945-16T>A
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NM_001854.4(COL11A1):c.1945-18T>C
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NM_001854.4(COL11A1):c.1945-19C>T
|
rs1571000550
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NM_001854.4(COL11A1):c.1945-296G>T
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rs116296541
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NM_001854.4(COL11A1):c.1945-43dup
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rs370445089
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NM_001854.4(COL11A1):c.1945-4C>G
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rs369850252
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NM_001854.4(COL11A1):c.1945-7C>A
|
rs201424786
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NM_001854.4(COL11A1):c.1945-7C>T
|
rs201424786
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NM_001854.4(COL11A1):c.1947C>T (p.Gly649=)
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rs1390854803
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NM_001854.4(COL11A1):c.195G>A (p.Lys65=)
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NM_001854.4(COL11A1):c.1968A>G (p.Pro656=)
|
rs1571000308
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NM_001854.4(COL11A1):c.198T>C (p.Asn66=)
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rs777941684
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NM_001854.4(COL11A1):c.1999-19T>C
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NM_001854.4(COL11A1):c.1999-9T>C
|
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NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr)
|
rs767790003
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NM_001854.4(COL11A1):c.2019C>T (p.Gly673=)
|
rs770998941
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NM_001854.4(COL11A1):c.2022C>T (p.Pro674=)
|
rs747879227
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NM_001854.4(COL11A1):c.2023C>T (p.Pro675Ser)
|
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NM_001854.4(COL11A1):c.2038A>C (p.Asn680His)
|
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NM_001854.4(COL11A1):c.2040C>T (p.Asn680=)
|
rs530187653
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NM_001854.4(COL11A1):c.2043+12A>T
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NM_001854.4(COL11A1):c.2043+9C>T
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NM_001854.4(COL11A1):c.2044-11T>G
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NM_001854.4(COL11A1):c.2044-18T>C
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NM_001854.4(COL11A1):c.2044-19T>G
|
rs778017851
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NM_001854.4(COL11A1):c.2044-5G>C
|
rs2101831010
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NM_001854.4(COL11A1):c.2044-9C>T
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NM_001854.4(COL11A1):c.204A>G (p.Lys68=)
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NM_001854.4(COL11A1):c.2055G>C (p.Gly685=)
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NM_001854.4(COL11A1):c.207C>G (p.Gly69=)
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NM_001854.4(COL11A1):c.207C>T (p.Gly69=)
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NM_001854.4(COL11A1):c.2097+11G>A
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NM_001854.4(COL11A1):c.2097+7C>A
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NM_001854.4(COL11A1):c.2098-10T>C
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NM_001854.4(COL11A1):c.2098-11T>C
|
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NM_001854.4(COL11A1):c.2098-12C>A
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NM_001854.4(COL11A1):c.2098-18T>C
|
rs2101827894
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NM_001854.4(COL11A1):c.2098-19A>C
|
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NM_001854.4(COL11A1):c.2098-6A>C
|
rs1557928458
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NM_001854.4(COL11A1):c.2105C>A (p.Pro702His)
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NM_001854.4(COL11A1):c.2122A>G (p.Ile708Val)
|
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NM_001854.4(COL11A1):c.2142+10T>C
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NM_001854.4(COL11A1):c.2142+16_2142+18del
|
rs762103607
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NM_001854.4(COL11A1):c.2142+368T>C
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NM_001854.4(COL11A1):c.2142+734A>G
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NM_001854.4(COL11A1):c.2142+744C>T
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NM_001854.4(COL11A1):c.2143-20A>T
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NM_001854.4(COL11A1):c.2143-20del
|
rs1389430938
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NM_001854.4(COL11A1):c.2143-263del
|
rs71592254
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NM_001854.4(COL11A1):c.2143-5A>C
|
rs749510866
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NM_001854.4(COL11A1):c.2143-6T>C
|
rs768898296
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NM_001854.4(COL11A1):c.2154A>G (p.Gly718=)
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rs1490591478
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NM_001854.4(COL11A1):c.2163A>T (p.Gly721=)
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NM_001854.4(COL11A1):c.2196+10A>G
|
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NM_001854.4(COL11A1):c.2196+11G>A
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rs1664814779
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NM_001854.4(COL11A1):c.2196+17T>C
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NM_001854.4(COL11A1):c.2196+19G>C
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NM_001854.4(COL11A1):c.2196+8A>G
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NM_001854.4(COL11A1):c.2208G>T (p.Gly736=)
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NM_001854.4(COL11A1):c.2232G>A (p.Lys744=)
|
rs765354732
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NM_001854.4(COL11A1):c.2241+12A>C
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rs2101800574
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NM_001854.4(COL11A1):c.2241+18C>T
|
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NM_001854.4(COL11A1):c.2241+7del
|
rs757265952
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NM_001854.4(COL11A1):c.2244T>C (p.Gly748=)
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rs1211882498
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NM_001854.4(COL11A1):c.2244T>G (p.Gly748=)
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NM_001854.4(COL11A1):c.2247C>G (p.Pro749=)
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NM_001854.4(COL11A1):c.2247C>T (p.Pro749=)
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NM_001854.4(COL11A1):c.2250T>C (p.Pro750=)
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NM_001854.4(COL11A1):c.2265T>C (p.Pro755=)
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NM_001854.4(COL11A1):c.2277G>A (p.Pro759=)
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NM_001854.4(COL11A1):c.2277G>T (p.Pro759=)
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NM_001854.4(COL11A1):c.2284C>T (p.Arg762Trp)
|
rs759469788
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NM_001854.4(COL11A1):c.2295+15T>C
|
rs2101793813
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NM_001854.4(COL11A1):c.2296-19C>T
|
rs776330050
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NM_001854.4(COL11A1):c.2340+11A>C
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NM_001854.4(COL11A1):c.2340+19G>T
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NM_001854.4(COL11A1):c.2340+9_2340+13del
|
rs374301870
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NM_001854.4(COL11A1):c.2341-11T>C
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NM_001854.4(COL11A1):c.2341-13T>A
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NM_001854.4(COL11A1):c.2341-16T>A
|
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NM_001854.4(COL11A1):c.2341-17C>A
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NM_001854.4(COL11A1):c.2341-20T>A
|
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NM_001854.4(COL11A1):c.2341-7G>A
|
rs2101750596
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NM_001854.4(COL11A1):c.2349T>C (p.Asp783=)
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NM_001854.4(COL11A1):c.2355T>C (p.Phe785=)
|
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NM_001854.4(COL11A1):c.2394+11A>C
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NM_001854.4(COL11A1):c.2394+12G>T
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NM_001854.4(COL11A1):c.2394+16A>G
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NM_001854.4(COL11A1):c.2394+8T>A
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NM_001854.4(COL11A1):c.2394+8T>C
|
rs1322783114
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NM_001854.4(COL11A1):c.2395-15T>C
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NM_001854.4(COL11A1):c.240A>G (p.Ala80=)
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NM_001854.4(COL11A1):c.2421A>G (p.Arg807=)
|
rs367824632
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NM_001854.4(COL11A1):c.2424G>C (p.Gly808=)
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NM_001854.4(COL11A1):c.2427A>G (p.Glu809=)
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NM_001854.4(COL11A1):c.246C>G (p.Leu82=)
|
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NM_001854.4(COL11A1):c.2502+11G>T
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NM_001854.4(COL11A1):c.2502+12A>G
|
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NM_001854.4(COL11A1):c.2502+16del
|
rs576277384
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NM_001854.4(COL11A1):c.2502+271G>A
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rs115389602
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NM_001854.4(COL11A1):c.2503-13A>G
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NM_001854.4(COL11A1):c.2503-16T>C
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NM_001854.4(COL11A1):c.2503-4G>A
|
rs901317166
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NM_001854.4(COL11A1):c.2503-5T>C
|
rs1557903443
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NM_001854.4(COL11A1):c.2509C>A (p.Leu837Ile)
|
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NM_001854.4(COL11A1):c.2536C>A (p.Pro846Thr)
|
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NM_001854.4(COL11A1):c.2553A>C (p.Pro851=)
|
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NM_001854.4(COL11A1):c.2556+135_2556+136del
|
rs146402276
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NM_001854.4(COL11A1):c.2556+18T>A
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NM_001854.4(COL11A1):c.2556+20A>G
|
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NM_001854.4(COL11A1):c.2556+332A>G
|
rs150296583
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NM_001854.4(COL11A1):c.2557-10A>G
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NM_001854.4(COL11A1):c.2557-20A>G
|
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NM_001854.4(COL11A1):c.2557-20A>T
|
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NM_001854.4(COL11A1):c.2557-4G>T
|
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NM_001854.4(COL11A1):c.2557-5T>C
|
|
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NM_001854.4(COL11A1):c.2557-8T>C
|
rs572637910
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NM_001854.4(COL11A1):c.2561C>T (p.Ser854Phe)
|
|
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NM_001854.4(COL11A1):c.2565T>G (p.Thr855=)
|
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NM_001854.4(COL11A1):c.2577G>A (p.Gly859=)
|
rs1312297641
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NM_001854.4(COL11A1):c.258A>G (p.Thr86=)
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NM_001854.4(COL11A1):c.2610+10A>G
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NM_001854.4(COL11A1):c.2611-11G>A
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NM_001854.4(COL11A1):c.2611-4C>G
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NM_001854.4(COL11A1):c.2611-6T>C
|
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NM_001854.4(COL11A1):c.2611-9C>T
|
rs1485078930
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NM_001854.4(COL11A1):c.2622C>A (p.Gly874=)
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NM_001854.4(COL11A1):c.2622C>T (p.Gly874=)
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NM_001854.4(COL11A1):c.263A>T (p.Gln88Leu)
|
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NM_001854.4(COL11A1):c.2655+9C>T
|
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NM_001854.4(COL11A1):c.2656-12T>C
|
rs769091234
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NM_001854.4(COL11A1):c.2656-15T>C
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NM_001854.4(COL11A1):c.2656-4G>T
|
rs1553224423
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NM_001854.4(COL11A1):c.2676T>G (p.Gly892=)
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NM_001854.4(COL11A1):c.2700T>C (p.Pro900=)
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NM_001854.4(COL11A1):c.2709+13C>A
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NM_001854.4(COL11A1):c.2709+15T>C
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NM_001854.4(COL11A1):c.2709+16T>A
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NM_001854.4(COL11A1):c.2709+20del
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NM_001854.4(COL11A1):c.2709+7C>A
|
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NM_001854.4(COL11A1):c.2709+7C>G
|
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NM_001854.4(COL11A1):c.2710-16C>T
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NM_001854.4(COL11A1):c.2710-8G>T
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NM_001854.4(COL11A1):c.2724C>G (p.Gly908=)
|
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NM_001854.4(COL11A1):c.2724C>T (p.Gly908=)
|
rs201972285
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NM_001854.4(COL11A1):c.2730C>T (p.Gly910=)
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NM_001854.4(COL11A1):c.2736T>C (p.Pro912=)
|
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NM_001854.4(COL11A1):c.2739C>A (p.Gly913=)
|
|
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NM_001854.4(COL11A1):c.2739C>T (p.Gly913=)
|
rs1553224335
|
|
NM_001854.4(COL11A1):c.274+12T>C
|
|
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NM_001854.4(COL11A1):c.274+14A>G
|
|
|
NM_001854.4(COL11A1):c.274+194_274+198del
|
rs141045560
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NM_001854.4(COL11A1):c.274+19del
|
rs753977832
|
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NM_001854.4(COL11A1):c.274+5A>G
|
rs1571238473
|
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NM_001854.4(COL11A1):c.274+9A>T
|
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NM_001854.4(COL11A1):c.275-14C>A
|
|
|
NM_001854.4(COL11A1):c.275-5C>G
|
|
|
NM_001854.4(COL11A1):c.2754+10_2754+15dup
|
rs1332179238
|
|
NM_001854.4(COL11A1):c.2754+9G>C
|
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NM_001854.4(COL11A1):c.2755-13T>A
|
|
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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.2755-20C>T
|
|
|
NM_001854.4(COL11A1):c.2755-4C>A
|
|
|
NM_001854.4(COL11A1):c.2772G>A (p.Gln924=)
|
rs1662316185
|
|
NM_001854.4(COL11A1):c.2808+12_2808+13del
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NM_001854.4(COL11A1):c.2808+13G>A
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NM_001854.4(COL11A1):c.2808+18T>C
|
|
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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.2814A>G (p.Pro938=)
|
rs756359136
|
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NM_001854.4(COL11A1):c.2823G>A (p.Lys941=)
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NM_001854.4(COL11A1):c.2829G>A (p.Gly943=)
|
|
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NM_001854.4(COL11A1):c.2851C>T (p.Arg951Cys)
|
|
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NM_001854.4(COL11A1):c.2862+11T>C
|
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|
NM_001854.4(COL11A1):c.2862+8A>C
|
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|
NM_001854.4(COL11A1):c.2863-13T>C
|
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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.2883C>T (p.Gly961=)
|
rs2101595386
|
|
NM_001854.4(COL11A1):c.2895A>G (p.Pro965=)
|
|
|
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+3_2916+6dup
|
|
|
NM_001854.4(COL11A1):c.2917-12T>C
|
|
|
NM_001854.4(COL11A1):c.2917-15G>A
|
|
|
NM_001854.4(COL11A1):c.2917-20A>C
|
|
|
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.2922A>C (p.Pro974=)
|
rs1570881250
|
|
NM_001854.4(COL11A1):c.2924C>A (p.Thr975Asn)
|
|
|
NM_001854.4(COL11A1):c.2964C>T (p.Gly988=)
|
|
|
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.3006A>G (p.Ala1002=)
|
|
|
NM_001854.4(COL11A1):c.3024+15A>G
|
|
|
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.3027T>G (p.Gly1009=)
|
|
|
NM_001854.4(COL11A1):c.3051A>C (p.Ser1017=)
|
rs1570879161
|
|
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.30G>A (p.Thr10=)
|
|
|
NM_001854.4(COL11A1):c.3114+13T>G
|
|
|
NM_001854.4(COL11A1):c.3114+14C>T
|
|
|
NM_001854.4(COL11A1):c.3115-11A>T
|
rs1424014484
|
|
NM_001854.4(COL11A1):c.3115-18T>G
|
rs1660950013
|
|
NM_001854.4(COL11A1):c.3115-19T>A
|
|
|
NM_001854.4(COL11A1):c.3138G>T (p.Gly1046=)
|
|
|
NM_001854.4(COL11A1):c.3159A>C (p.Pro1053=)
|
|
|
NM_001854.4(COL11A1):c.3168+13A>G
|
|
|
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.3169-17_3169-15del
|
|
|
NM_001854.4(COL11A1):c.3169-20C>G
|
|
|
NM_001854.4(COL11A1):c.3169-20C>T
|
|
|
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.3184C>T (p.Arg1062Cys)
|
|
|
NM_001854.4(COL11A1):c.3195A>G (p.Ala1065=)
|
|
|
NM_001854.4(COL11A1):c.3216T>C (p.Gly1072=)
|
|
|
NM_001854.4(COL11A1):c.3219A>G (p.Leu1073=)
|
rs759784635
|
|
NM_001854.4(COL11A1):c.3222A>G (p.Pro1074=)
|
|
|
NM_001854.4(COL11A1):c.3231G>T (p.Pro1077=)
|
|
|
NM_001854.4(COL11A1):c.3235C>T (p.Pro1079Ser)
|
|
|
NM_001854.4(COL11A1):c.3246T>C (p.Pro1082=)
|
|
|
NM_001854.4(COL11A1):c.3249T>C (p.Pro1083=)
|
|
|
NM_001854.4(COL11A1):c.3258T>C (p.Ala1086=)
|
|
|
NM_001854.4(COL11A1):c.3276+13T>C
|
|
|
NM_001854.4(COL11A1):c.3276+14A>G
|
|
|
NM_001854.4(COL11A1):c.3276+16G>A
|
|
|
NM_001854.4(COL11A1):c.3277-20T>A
|
|
|
NM_001854.4(COL11A1):c.3277-9T>A
|
|
|
NM_001854.4(COL11A1):c.3297G>A (p.Gly1099=)
|
|
|
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.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.3368G>C (p.Gly1123Ala)
|
|
|
NM_001854.4(COL11A1):c.336G>A (p.Gln112=)
|
|
|
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+17C>T
|
|
|
NM_001854.4(COL11A1):c.3384+18G>T
|
|
|
NM_001854.4(COL11A1):c.3384+20G>A
|
rs2101303308
|
|
NM_001854.4(COL11A1):c.3385-17A>C
|
|
|
NM_001854.4(COL11A1):c.3385-18C>T
|
|
|
NM_001854.4(COL11A1):c.3385-8A>C
|
|
|
NM_001854.4(COL11A1):c.3438+12A>G
|
|
|
NM_001854.4(COL11A1):c.3438+20C>G
|
|
|
NM_001854.4(COL11A1):c.3439-13T>A
|
|
|
NM_001854.4(COL11A1):c.3441C>T (p.Gly1147=)
|
|
|
NM_001854.4(COL11A1):c.3448G>A (p.Gly1150Ser)
|
|
|
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.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+20C>T
|
rs1374170381
|
|
NM_001854.4(COL11A1):c.3492+9T>A
|
|
|
NM_001854.4(COL11A1):c.3493-12T>C
|
|
|
NM_001854.4(COL11A1):c.3493-14T>C
|
rs2101214979
|
|
NM_001854.4(COL11A1):c.3493-15C>T
|
|
|
NM_001854.4(COL11A1):c.3495A>C (p.Gly1165=)
|
|
|
NM_001854.4(COL11A1):c.3495A>G (p.Gly1165=)
|
rs1553208812
|
|
NM_001854.4(COL11A1):c.3501T>C (p.Asp1167=)
|
rs2101214575
|
|
NM_001854.4(COL11A1):c.3508C>T (p.Pro1170Ser)
|
|
|
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.3537T>C (p.Phe1179=)
|
|
|
NM_001854.4(COL11A1):c.3549T>A (p.Gly1183=)
|
|
|
NM_001854.4(COL11A1):c.3579T>C (p.Pro1193=)
|
|
|
NM_001854.4(COL11A1):c.3590T>C (p.Ile1197Thr)
|
|
|
NM_001854.4(COL11A1):c.3600+11C>T
|
|
|
NM_001854.4(COL11A1):c.3600+14G>C
|
rs774149721
|
|
NM_001854.4(COL11A1):c.3601-19T>G
|
|
|
NM_001854.4(COL11A1):c.3601-8T>A
|
|
|
NM_001854.4(COL11A1):c.360T>C (p.Asn120=)
|
|
|
NM_001854.4(COL11A1):c.3618T>G (p.Pro1206=)
|
|
|
NM_001854.4(COL11A1):c.3621T>A (p.Gly1207=)
|
|
|
NM_001854.4(COL11A1):c.3623A>G (p.Glu1208Gly)
|
|
|
NM_001854.4(COL11A1):c.3648T>C (p.Gly1216=)
|
|
|
NM_001854.4(COL11A1):c.3654+18G>A
|
|
|
NM_001854.4(COL11A1):c.3654+18del
|
rs2101086275
|
|
NM_001854.4(COL11A1):c.3654+20G>A
|
rs1443440437
|
|
NM_001854.4(COL11A1):c.3654+8T>C
|
|
|
NM_001854.4(COL11A1):c.3654+91_3654+92del
|
rs34112708
|
|
NM_001854.4(COL11A1):c.3655-10T>C
|
|
|
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.3655-8T>A
|
|
|
NM_001854.4(COL11A1):c.3655-9C>T
|
|
|
NM_001854.4(COL11A1):c.3669T>C (p.Pro1223=)
|
rs1655993743
|
|
NM_001854.4(COL11A1):c.3675C>A (p.Gly1225=)
|
|
|
NM_001854.4(COL11A1):c.3677C>G (p.Pro1226Arg)
|
|
|
NM_001854.4(COL11A1):c.3708+15AT[2]
|
|
|
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.3709-4G>A
|
rs764769652
|
|
NM_001854.4(COL11A1):c.3709-9A>G
|
|
|
NM_001854.4(COL11A1):c.3714A>G (p.Pro1238=)
|
|
|
NM_001854.4(COL11A1):c.3723C>T (p.Pro1241=)
|
|
|
NM_001854.4(COL11A1):c.3743T>C (p.Val1248Ala)
|
|
|
NM_001854.4(COL11A1):c.3753T>G (p.Val1251=)
|
|
|
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.3763-6A>C
|
|
|
NM_001854.4(COL11A1):c.3775G>C (p.Glu1259Gln)
|
|
|
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.379A>G (p.Ile127Val)
|
|
|
NM_001854.4(COL11A1):c.3804A>G (p.Glu1268=)
|
rs2101039058
|
|
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+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.3817-6G>A
|
|
|
NM_001854.4(COL11A1):c.3817-9A>G
|
|
|
NM_001854.4(COL11A1):c.3837A>T (p.Gly1279=)
|
|
|
NM_001854.4(COL11A1):c.3840G>T (p.Glu1280Asp)
|
|
|
NM_001854.4(COL11A1):c.3845G>C (p.Gly1282Ala)
|
|
|
NM_001854.4(COL11A1):c.3861T>A (p.Pro1287=)
|
|
|
NM_001854.4(COL11A1):c.3875C>A (p.Pro1292His)
|
|
|
NM_001854.4(COL11A1):c.3887A>G (p.Lys1296Arg)
|
rs1459686009
|
|
NM_001854.4(COL11A1):c.3898G>A (p.Gly1300Ser)
|
|
|
NM_001854.4(COL11A1):c.3924+13G>A
|
|
|
NM_001854.4(COL11A1):c.3924+15del
|
|
|
NM_001854.4(COL11A1):c.3925-10G>A
|
rs773007335
|
|
NM_001854.4(COL11A1):c.3925-10G>T
|
rs773007335
|
|
NM_001854.4(COL11A1):c.3925-5T>G
|
|
|
NM_001854.4(COL11A1):c.3933T>A (p.Val1311=)
|
|
|
NM_001854.4(COL11A1):c.3946G>T (p.Asp1316Tyr)
|
|
|
NM_001854.4(COL11A1):c.3963G>A (p.Gly1321=)
|
|
|
NM_001854.4(COL11A1):c.3978+11G>A
|
|
|
NM_001854.4(COL11A1):c.3978+12G>A
|
|
|
NM_001854.4(COL11A1):c.3978+20C>T
|
|
|
NM_001854.4(COL11A1):c.3978+7A>G
|
|
|
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.3979-4A>T
|
|
|
NM_001854.4(COL11A1):c.3989G>A (p.Gly1330Asp)
|
rs547219683
|
|
NM_001854.4(COL11A1):c.4014T>C (p.Asp1338=)
|
|
|
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+19T>C
|
|
|
NM_001854.4(COL11A1):c.4033-20T>C
|
rs751133123
|
|
NM_001854.4(COL11A1):c.4044C>A (p.Gly1348=)
|
|
|
NM_001854.4(COL11A1):c.4059T>G (p.Ala1353=)
|
|
|
NM_001854.4(COL11A1):c.405T>C (p.Pro135=)
|
|
|
NM_001854.4(COL11A1):c.4062C>G (p.Gly1354=)
|
|
|
NM_001854.4(COL11A1):c.4064C>T (p.Pro1355Leu)
|
|
|
NM_001854.4(COL11A1):c.4085G>A (p.Arg1362Gln)
|
|
|
NM_001854.4(COL11A1):c.4086+13A>C
|
|
|
NM_001854.4(COL11A1):c.4086+17C>T
|
rs369288970
|
|
NM_001854.4(COL11A1):c.4086+20T>C
|
rs751128735
|
|
NM_001854.4(COL11A1):c.4086+8T>G
|
rs2101016547
|
|
NM_001854.4(COL11A1):c.4087-13C>G
|
|
|
NM_001854.4(COL11A1):c.4087-15A>G
|
|
|
NM_001854.4(COL11A1):c.4087-19A>G
|
|
|
NM_001854.4(COL11A1):c.4087-7T>C
|
|
|
NM_001854.4(COL11A1):c.409T>G (p.Phe137Val)
|
|
|
NM_001854.4(COL11A1):c.4121A>G (p.Gln1374Arg)
|
|
|
NM_001854.4(COL11A1):c.4140+10A>G
|
rs187171126
|
|
NM_001854.4(COL11A1):c.4140+11A>T
|
|
|
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.4141-14T>A
|
|
|
NM_001854.4(COL11A1):c.4141-9_4141-6del
|
|
|
NM_001854.4(COL11A1):c.4167T>C (p.Pro1389=)
|
rs754697310
|
|
NM_001854.4(COL11A1):c.4172A>T (p.Lys1391Ile)
|
|
|
NM_001854.4(COL11A1):c.4176C>T (p.Thr1392=)
|
|
|
NM_001854.4(COL11A1):c.4186G>A (p.Gly1396Ser)
|
|
|
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.4248+13G>A
|
|
|
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.4303-12_4303-10del
|
|
|
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.4303-22_4303-20delinsGAA
|
rs2100864833
|
|
NM_001854.4(COL11A1):c.4303-8T>C
|
|
|
NM_001854.4(COL11A1):c.4305A>G (p.Gly1435=)
|
|
|
NM_001854.4(COL11A1):c.4317A>T (p.Leu1439Phe)
|
|
|
NM_001854.4(COL11A1):c.4319C>G (p.Pro1440Arg)
|
|
|
NM_001854.4(COL11A1):c.4332T>C (p.Gly1444=)
|
|
|
NM_001854.4(COL11A1):c.4341C>A (p.Gly1447=)
|
rs2100864112
|
|
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+7A>C
|
|
|
NM_001854.4(COL11A1):c.4357-11G>T
|
|
|
NM_001854.4(COL11A1):c.4357-15C>A
|
|
|
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.4418G>A (p.Arg1473Gln)
|
|
|
NM_001854.4(COL11A1):c.4425C>T (p.Leu1475=)
|
|
|
NM_001854.4(COL11A1):c.4464+16G>C
|
rs1651460619
|
|
NM_001854.4(COL11A1):c.4464+19del
|
|
|
NM_001854.4(COL11A1):c.4464+46CA[17]
|
rs113226085
|
|
NM_001854.4(COL11A1):c.4465-10C>A
|
|
|
NM_001854.4(COL11A1):c.4465-14G>C
|
|
|
NM_001854.4(COL11A1):c.4465-4C>G
|
|
|
NM_001854.4(COL11A1):c.4470T>A (p.Ile1490=)
|
rs2100853669
|
|
NM_001854.4(COL11A1):c.4508C>G (p.Pro1503Arg)
|
|
|
NM_001854.4(COL11A1):c.4509A>C (p.Pro1503=)
|
|
|
NM_001854.4(COL11A1):c.450C>T (p.Asp150=)
|
|
|
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+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.4519-17G>A
|
|
|
NM_001854.4(COL11A1):c.4519-17_4519-16insTTTGAA
|
rs1472384892
|
|
NM_001854.4(COL11A1):c.4519-8T>C
|
rs1570635708
|
|
NM_001854.4(COL11A1):c.4519-9A>G
|
rs542653794
|
|
NM_001854.4(COL11A1):c.4536G>A (p.Lys1512=)
|
|
|
NM_001854.4(COL11A1):c.4548C>G (p.Gly1516=)
|
|
|
NM_001854.4(COL11A1):c.4555-16C>G
|
|
|
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.457C>T (p.Leu153Phe)
|
|
|
NM_001854.4(COL11A1):c.4590A>T (p.Pro1530=)
|
|
|
NM_001854.4(COL11A1):c.4602_4603delinsCC (p.Ser1535Pro)
|
rs2100851256
|
|
NM_001854.4(COL11A1):c.4608+10T>C
|
|
|
NM_001854.4(COL11A1):c.4608+20_4608+26del
|
|
|
NM_001854.4(COL11A1):c.4609-11C>A
|
|
|
NM_001854.4(COL11A1):c.4609-19C>T
|
|
|
NM_001854.4(COL11A1):c.4609-6T>C
|
|
|
NM_001854.4(COL11A1):c.4620T>C (p.Gly1540=)
|
|
|
NM_001854.4(COL11A1):c.4623A>G (p.Glu1541=)
|
rs2100841333
|
|
NM_001854.4(COL11A1):c.4633C>T (p.Pro1545Ser)
|
|
|
NM_001854.4(COL11A1):c.4643T>C (p.Ile1548Thr)
|
|
|
NM_001854.4(COL11A1):c.4651T>A (p.Ser1551Thr)
|
|
|
NM_001854.4(COL11A1):c.4653C>A (p.Ser1551=)
|
rs774737090
|
|
NM_001854.4(COL11A1):c.4662G>T (p.Thr1554=)
|
|
|
NM_001854.4(COL11A1):c.4693G>A (p.Ala1565Thr)
|
|
|
NM_001854.4(COL11A1):c.4737A>C (p.Ile1579=)
|
rs1651058219
|
|
NM_001854.4(COL11A1):c.4738T>C (p.Phe1580Leu)
|
|
|
NM_001854.4(COL11A1):c.4746C>T (p.Ser1582=)
|
rs1651056020
|
|
NM_001854.4(COL11A1):c.474C>T (p.Asn158=)
|
|
|
NM_001854.4(COL11A1):c.4782A>G (p.Lys1594=)
|
rs1283894129
|
|
NM_001854.4(COL11A1):c.4788A>G (p.Pro1596=)
|
rs1651047517
|
|
NM_001854.4(COL11A1):c.4789A>G (p.Met1597Val)
|
|
|
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)
|
|
|
NM_001854.4(COL11A1):c.4833A>G (p.Gln1611=)
|
|
|
NM_001854.4(COL11A1):c.4845T>G (p.Pro1615=)
|
|
|
NM_001854.4(COL11A1):c.4858+18G>A
|
|
|
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.4878T>C (p.Pro1626=)
|
rs1570618762
|
|
NM_001854.4(COL11A1):c.488+10A>G
|
|
|
NM_001854.4(COL11A1):c.488+7A>G
|
rs1571228967
|
|
NM_001854.4(COL11A1):c.489-19A>G
|
|
|
NM_001854.4(COL11A1):c.489-20G>T
|
|
|
NM_001854.4(COL11A1):c.489-3dup
|
rs1671845303
|
|
NM_001854.4(COL11A1):c.4962A>G (p.Lys1654=)
|
rs2101025797
|
|
NM_001854.4(COL11A1):c.4971+16T>C
|
rs550899555
|
|
NM_001854.4(COL11A1):c.4971+19T>C
|
|
|
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>T (p.Arg166Leu)
|
|
|
NM_001854.4(COL11A1):c.4983A>G (p.Ser1661=)
|
rs749476906
|
|
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.5003C>T (p.Pro1668Leu)
|
rs541676352
|
|
NM_001854.4(COL11A1):c.501A>G (p.Val167=)
|
|
|
NM_001854.4(COL11A1):c.5031G>A (p.Arg1677=)
|
|
|
NM_001854.4(COL11A1):c.5038C>T (p.Leu1680=)
|
|
|
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.513G>A (p.Val171=)
|
|
|
NM_001854.4(COL11A1):c.525T>G (p.Thr175=)
|
|
|
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.5275-9A>C
|
rs200949243
|
|
NM_001854.4(COL11A1):c.5277C>A (p.Ser1759=)
|
rs2100996694
|
|
NM_001854.4(COL11A1):c.5292A>G (p.Glu1764=)
|
|
|
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.5324T>C (p.Ile1775Thr)
|
|
|
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=)
|
rs532113782
|
|
NM_001854.4(COL11A1):c.5329C>G (p.Gln1777Glu)
|
|
|
NM_001854.4(COL11A1):c.5343T>G (p.Val1781=)
|
|
|
NM_001854.4(COL11A1):c.5355C>A (p.Ile1785=)
|
|
|
NM_001854.4(COL11A1):c.5390T>C (p.Phe1797Ser)
|
|
|
NM_001854.4(COL11A1):c.5401C>T (p.Pro1801Ser)
|
|
|
NM_001854.4(COL11A1):c.5420A>G (p.Ter1807=)
|
|
|
NM_001854.4(COL11A1):c.5421A>G (p.Ter1807=)
|
|
|
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)
|
rs184606223
|
|
NM_001854.4(COL11A1):c.561G>A (p.Thr187=)
|
|
|
NM_001854.4(COL11A1):c.571G>C (p.Asp191His)
|
|
|
NM_001854.4(COL11A1):c.573T>A (p.Asp191Glu)
|
|
|
NM_001854.4(COL11A1):c.584G>T (p.Arg195Ile)
|
|
|
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.625A>C (p.Arg209=)
|
|
|
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.652-14T>G
|
|
|
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.652-16_652-15insG
|
|
|
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.652-37_652-15del
|
|
|
NM_001854.4(COL11A1):c.652-3dup
|
|
|
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_652-6dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-8T>C
|
|
|
NM_001854.4(COL11A1):c.654G>T (p.Gly218=)
|
|
|
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.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>T (p.Asp234Tyr)
|
|
|
NM_001854.4(COL11A1):c.721C>T (p.Pro241Ser)
|
rs1435390186
|
|
NM_001854.4(COL11A1):c.747G>C (p.Lys249Asn)
|
|
|
NM_001854.4(COL11A1):c.75C>A (p.Thr25=)
|
|
|
NM_001854.4(COL11A1):c.768T>A (p.Pro256=)
|
|
|
NM_001854.4(COL11A1):c.780+11C>A
|
|
|
NM_001854.4(COL11A1):c.780+13A>T
|
rs1322678821
|
|
NM_001854.4(COL11A1):c.780+19G>C
|
|
|
NM_001854.4(COL11A1):c.781-15T>C
|
|
|
NM_001854.4(COL11A1):c.781-19T>C
|
rs1667519151
|
|
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr)
|
rs372319750
|
|
NM_001854.4(COL11A1):c.795T>C (p.Asp265=)
|
|
|
NM_001854.4(COL11A1):c.807T>C (p.Tyr269=)
|
|
|
NM_001854.4(COL11A1):c.813T>C (p.Tyr271=)
|
rs1667511960
|
|
NM_001854.4(COL11A1):c.834T>C (p.Tyr278=)
|
|
|
NM_001854.4(COL11A1):c.840G>T (p.Glu280Asp)
|
|
|
NM_001854.4(COL11A1):c.849T>A (p.Ser283Arg)
|
|
|
NM_001854.4(COL11A1):c.866C>T (p.Thr289Ile)
|
|
|
NM_001854.4(COL11A1):c.867T>C (p.Thr289=)
|
rs2101965992
|
|
NM_001854.4(COL11A1):c.879G>T (p.Glu293Asp)
|
|
|
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>A
|
|
|
NM_001854.4(COL11A1):c.897+18C>G
|
|
|
NM_001854.4(COL11A1):c.897+18C>T
|
|
|
NM_001854.4(COL11A1):c.897+20T>G
|
|
|
NM_001854.4(COL11A1):c.898-17T>C
|
|
|
NM_001854.4(COL11A1):c.898-20T>A
|
rs2101961925
|
|
NM_001854.4(COL11A1):c.915T>C (p.Asp305=)
|
|
|
NM_001854.4(COL11A1):c.951C>T (p.Tyr317=)
|
|
|
NM_001854.4(COL11A1):c.957A>G (p.Thr319=)
|
|
|
NM_001854.4(COL11A1):c.960A>G (p.Glu320=)
|
|
|
NM_001854.4(COL11A1):c.986A>G (p.Asn329Ser)
|
|
|
NM_001854.4(COL11A1):c.990+10A>G
|
|
|
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+17G>A
|
|
|
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.997C>G (p.Pro333Ala)
|
|
|
NM_001854.4(COL11A1):c.999A>T (p.Pro333=)
|
|
|
NM_001854.4(COL11A1):c.9G>T (p.Pro3=)
|
rs1445323984
|
|