NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)
|
rs1676486
|
0.81716
|
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=)
|
rs1763347
|
0.64340
|
NM_001854.4(COL11A1):c.2611-19A>C
|
rs11164649
|
0.57301
|
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.275-7T>C
|
rs12136865
|
0.14046
|
NM_001854.4(COL11A1):c.4608+18A>G
|
rs17127203
|
0.12045
|
NM_001854.4(COL11A1):c.660T>C (p.Ile220=)
|
rs71664966
|
0.11088
|
NM_001854.4(COL11A1):c.1998+4T>A
|
rs12136577
|
0.10860
|
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu)
|
rs11164663
|
0.08714
|
NM_001854.4(COL11A1):c.1308+19A>G
|
rs34587338
|
0.08015
|
NM_001854.4(COL11A1):c.3168+15A>G
|
rs1012281
|
0.05717
|
NM_001854.4(COL11A1):c.2043+8G>A
|
rs2622875
|
0.04635
|
NM_001854.4(COL11A1):c.1413+18A>T
|
rs17461252
|
0.04131
|
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=)
|
rs111841420
|
0.02418
|
NM_001854.4(COL11A1):c.1944+11T>C
|
rs71664954
|
0.02235
|
NM_001854.4(COL11A1):c.651+16A>G
|
rs116303092
|
0.01555
|
NM_001854.4(COL11A1):c.3924+19C>T
|
rs77901108
|
0.01456
|
NM_001854.4(COL11A1):c.2611-4C>T
|
rs79505593
|
0.01381
|
NM_001854.4(COL11A1):c.652-6T>C
|
rs537778451
|
0.01171
|
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val)
|
rs75824519
|
0.01140
|
NM_001854.4(COL11A1):c.2097+18C>A
|
rs75124465
|
0.01139
|
NM_001854.4(COL11A1):c.3169-16T>C
|
rs76379510
|
0.00976
|
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=)
|
rs74778421
|
0.00956
|
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.3817-5T>C
|
rs201155391
|
0.00566
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=)
|
rs143606220
|
0.00382
|
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)
|
rs150090939
|
0.00381
|
NM_001854.4(COL11A1):c.3189G>A (p.Gly1063=)
|
rs75915098
|
0.00345
|
NM_001854.4(COL11A1):c.3979-14A>T
|
rs186245518
|
0.00338
|
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.3873A>C (p.Gly1291=)
|
rs149367044
|
0.00257
|
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)
|
rs112577505
|
0.00251
|
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)
|
rs78046647
|
0.00233
|
NM_001854.4(COL11A1):c.2556+92T>A
|
rs550991929
|
0.00222
|
NM_001854.4(COL11A1):c.4140+13T>A
|
rs374901069
|
0.00214
|
NM_001854.4(COL11A1):c.3925-11C>T
|
rs192518657
|
0.00213
|
NM_001854.4(COL11A1):c.3384+13T>G
|
rs201970483
|
0.00210
|
NM_001854.4(COL11A1):c.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.3277-13A>C
|
rs371455495
|
0.00116
|
NM_001854.4(COL11A1):c.4465-17G>A
|
rs201511614
|
0.00113
|
NM_001854.4(COL11A1):c.3925-16C>T
|
rs201491791
|
0.00099
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=)
|
rs138691968
|
0.00097
|
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=)
|
rs147247206
|
0.00096
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
NM_001854.4(COL11A1):c.652-7T>C
|
rs760697835
|
0.00088
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)
|
rs143651470
|
0.00070
|
NM_001854.4(COL11A1):c.489-7T>G
|
rs372555374
|
0.00068
|
NM_001854.4(COL11A1):c.3384+18G>A
|
rs200425985
|
0.00066
|
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)
|
rs150669855
|
0.00064
|
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)
|
rs147637674
|
0.00061
|
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=)
|
rs149526015
|
0.00039
|
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)
|
rs151249006
|
0.00039
|
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala)
|
rs144966407
|
0.00037
|
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)
|
rs149558726
|
0.00036
|
NM_001854.4(COL11A1):c.990+7C>T
|
rs137867554
|
0.00036
|
NM_001854.4(COL11A1):c.2917-20A>G
|
rs371776916
|
0.00032
|
NM_001854.4(COL11A1):c.489-4T>A
|
rs371357098
|
0.00032
|
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)
|
rs143663917
|
0.00031
|
NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly)
|
rs139480042
|
0.00030
|
NM_001854.4(COL11A1):c.139T>A (p.Phe47Ile)
|
rs143159512
|
0.00030
|
NM_001854.4(COL11A1):c.4608+13T>G
|
rs201561225
|
0.00030
|
NM_001854.4(COL11A1):c.1489-5C>A
|
rs370997745
|
0.00029
|
NM_001854.4(COL11A1):c.3601-5C>G
|
rs201968369
|
0.00028
|
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)
|
rs200496207
|
0.00026
|
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu)
|
rs143531636
|
0.00024
|
NM_001854.4(COL11A1):c.898-15T>C
|
rs200242905
|
0.00024
|
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala)
|
rs375675171
|
0.00023
|
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile)
|
rs199835797
|
0.00022
|
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser)
|
rs367824632
|
0.00021
|
NM_001854.4(COL11A1):c.652-13T>G
|
rs776608546
|
0.00020
|
NM_001854.4(COL11A1):c.4554+8C>T
|
rs372206712
|
0.00019
|
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala)
|
rs140954784
|
0.00019
|
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)
|
rs143206624
|
0.00019
|
NM_001854.4(COL11A1):c.1296A>G (p.Ala432=)
|
rs768321160
|
0.00018
|
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser)
|
rs145159429
|
0.00018
|
NM_001854.4(COL11A1):c.318A>G (p.Lys106=)
|
rs150668398
|
0.00018
|
NM_001854.4(COL11A1):c.2340+18A>C
|
rs369219525
|
0.00017
|
NM_001854.4(COL11A1):c.1246-6C>T
|
rs199855455
|
0.00016
|
NM_001854.4(COL11A1):c.2295+6G>A
|
rs372529718
|
0.00016
|
NM_001854.4(COL11A1):c.3115-12C>T
|
rs1009682657
|
0.00015
|
NM_001854.4(COL11A1):c.4032+18T>C
|
rs190625412
|
0.00015
|
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala)
|
rs55851925
|
0.00014
|
NM_001854.4(COL11A1):c.1630-13T>C
|
rs370547604
|
0.00014
|
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=)
|
rs141432979
|
0.00014
|
NM_001854.4(COL11A1):c.3816+15A>T
|
rs374295267
|
0.00014
|
NM_001854.4(COL11A1):c.4270G>C (p.Ala1424Pro)
|
rs371230505
|
0.00014
|
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly)
|
rs199539580
|
0.00014
|
NM_001854.4(COL11A1):c.946A>G (p.Ser316Gly)
|
rs369794634
|
0.00014
|
NM_001854.4(COL11A1):c.2043+9C>A
|
rs375495703
|
0.00013
|
NM_001854.4(COL11A1):c.3492+3G>A
|
rs372941709
|
0.00013
|
NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro)
|
rs370534700
|
0.00013
|
NM_001854.4(COL11A1):c.4971+11A>G
|
rs995074235
|
0.00013
|
NM_001854.4(COL11A1):c.882A>G (p.Thr294=)
|
rs201141662
|
0.00013
|
NM_001854.4(COL11A1):c.1504G>T (p.Asp502Tyr)
|
rs1212773301
|
0.00012
|
NM_001854.4(COL11A1):c.4140+13del
|
rs781736900
|
0.00012
|
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)
|
rs369925361
|
0.00012
|
NM_001854.4(COL11A1):c.1572+10G>A
|
rs1270301195
|
0.00011
|
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser)
|
rs201849355
|
0.00011
|
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln)
|
rs142523692
|
0.00011
|
NM_001854.4(COL11A1):c.3438+11T>C
|
rs765352070
|
0.00011
|
NM_001854.4(COL11A1):c.4200T>C (p.Pro1400=)
|
rs370559180
|
0.00011
|
NM_001854.4(COL11A1):c.4380G>A (p.Leu1460=)
|
rs180734278
|
0.00011
|
NM_001854.4(COL11A1):c.4391C>T (p.Pro1464Leu)
|
rs1342522458
|
0.00011
|
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=)
|
rs369265343
|
0.00011
|
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)
|
rs140608161
|
0.00010
|
NM_001854.4(COL11A1):c.489-16T>C
|
rs371086230
|
0.00010
|
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val)
|
rs779282500
|
0.00010
|
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=)
|
rs141770006
|
0.00009
|
NM_001854.4(COL11A1):c.158G>A (p.Gly53Glu)
|
rs139542185
|
0.00009
|
NM_001854.4(COL11A1):c.1630-4A>G
|
rs745811285
|
0.00009
|
NM_001854.4(COL11A1):c.1945-13C>A
|
rs12075061
|
0.00009
|
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)
|
rs192842970
|
0.00009
|
NM_001854.4(COL11A1):c.3138G>C (p.Gly1046=)
|
rs771925794
|
0.00009
|
NM_001854.4(COL11A1):c.3708+18T>C
|
rs200193791
|
0.00009
|
NM_001854.4(COL11A1):c.4087-4A>G
|
rs137999403
|
0.00009
|
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met)
|
rs759287748
|
0.00009
|
NM_001854.4(COL11A1):c.1032G>A (p.Thr344=)
|
rs367998577
|
0.00008
|
NM_001854.4(COL11A1):c.1690C>G (p.Arg564Gly)
|
rs776268452
|
0.00008
|
NM_001854.4(COL11A1):c.2325A>C (p.Gly775=)
|
rs779348315
|
0.00008
|
NM_001854.4(COL11A1):c.269T>A (p.Phe90Tyr)
|
rs986681092
|
0.00008
|
NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr)
|
rs377044024
|
0.00008
|
NM_001854.4(COL11A1):c.4033-12C>T
|
rs745961028
|
0.00008
|
NM_001854.4(COL11A1):c.456C>T (p.Pro152=)
|
rs751512442
|
0.00008
|
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)
|
rs558265763
|
0.00008
|
NM_001854.4(COL11A1):c.107-12C>T
|
rs200564243
|
0.00007
|
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys)
|
rs372387693
|
0.00007
|
NM_001854.4(COL11A1):c.1846-7T>A
|
rs1427233055
|
0.00007
|
NM_001854.4(COL11A1):c.1853G>A (p.Arg618Gln)
|
rs192313594
|
0.00007
|
NM_001854.4(COL11A1):c.2150A>G (p.Gln717Arg)
|
rs142524348
|
0.00007
|
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr)
|
rs144562769
|
0.00007
|
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser)
|
rs199952288
|
0.00007
|
NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn)
|
rs144510951
|
0.00007
|
NM_001854.4(COL11A1):c.652-18T>G
|
rs200309861
|
0.00007
|
NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn)
|
rs572826781
|
0.00006
|
NM_001854.4(COL11A1):c.1244G>A (p.Ser415Asn)
|
rs777310574
|
0.00006
|
NM_001854.4(COL11A1):c.1684-7G>C
|
rs201494436
|
0.00006
|
NM_001854.4(COL11A1):c.1798C>A (p.Arg600=)
|
rs747461816
|
0.00006
|
NM_001854.4(COL11A1):c.1818G>A (p.Pro606=)
|
rs748195901
|
0.00006
|
NM_001854.4(COL11A1):c.1833C>T (p.Asp611=)
|
rs757133349
|
0.00006
|
NM_001854.4(COL11A1):c.1899+3A>G
|
rs374676938
|
0.00006
|
NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg)
|
rs199875795
|
0.00006
|
NM_001854.4(COL11A1):c.2196+7A>G
|
rs750845068
|
0.00006
|
NM_001854.4(COL11A1):c.2246C>T (p.Pro749Leu)
|
rs776773238
|
0.00006
|
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg)
|
rs760387652
|
0.00006
|
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser)
|
rs370589018
|
0.00006
|
NM_001854.4(COL11A1):c.3384+15T>C
|
rs762241754
|
0.00006
|
NM_001854.4(COL11A1):c.3600+8G>A
|
rs188045535
|
0.00006
|
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=)
|
rs767276283
|
0.00006
|
NM_001854.4(COL11A1):c.4032+16A>G
|
rs200202502
|
0.00006
|
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)
|
rs775587076
|
0.00006
|
NM_001854.4(COL11A1):c.4328A>C (p.Lys1443Thr)
|
rs769350133
|
0.00006
|
NM_001854.4(COL11A1):c.4586T>C (p.Leu1529Pro)
|
rs578137786
|
0.00006
|
NM_001854.4(COL11A1):c.1245+1G>A
|
rs766849561
|
0.00005
|
NM_001854.4(COL11A1):c.1683+20C>G
|
rs373143275
|
0.00005
|
NM_001854.4(COL11A1):c.2097+3A>G
|
rs770210430
|
0.00005
|
NM_001854.4(COL11A1):c.2168C>A (p.Ala723Asp)
|
rs758354863
|
0.00005
|
NM_001854.4(COL11A1):c.4177G>A (p.Gly1393Ser)
|
rs767950147
|
0.00005
|
NM_001854.4(COL11A1):c.1177C>A (p.Pro393Thr)
|
rs556692411
|
0.00004
|
NM_001854.4(COL11A1):c.1320C>T (p.Val440=)
|
rs201585594
|
0.00004
|
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)
|
rs752749747
|
0.00004
|
NM_001854.4(COL11A1):c.1444G>A (p.Ala482Thr)
|
rs150428394
|
0.00004
|
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met)
|
rs770162224
|
0.00004
|
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu)
|
rs534777436
|
0.00004
|
NM_001854.4(COL11A1):c.1906G>T (p.Asp636Tyr)
|
rs368447146
|
0.00004
|
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)
|
rs142506188
|
0.00004
|
NM_001854.4(COL11A1):c.1998+15A>C
|
rs779795112
|
0.00004
|
NM_001854.4(COL11A1):c.2241+6T>C
|
rs374197371
|
0.00004
|
NM_001854.4(COL11A1):c.2295+5C>T
|
rs369103119
|
0.00004
|
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn)
|
rs762668220
|
0.00004
|
NM_001854.4(COL11A1):c.2610+17T>C
|
rs374394690
|
0.00004
|
NM_001854.4(COL11A1):c.2610+18G>A
|
rs750906344
|
0.00004
|
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)
|
rs749003514
|
0.00004
|
NM_001854.4(COL11A1):c.2656-20T>C
|
rs886038501
|
0.00004
|
NM_001854.4(COL11A1):c.275-14C>T
|
rs370321983
|
0.00004
|
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
|
rs1283924469
|
0.00004
|
NM_001854.4(COL11A1):c.2916+3A>G
|
rs200515572
|
0.00004
|
NM_001854.4(COL11A1):c.3025-11A>G
|
rs745667185
|
0.00004
|
NM_001854.4(COL11A1):c.3115G>T (p.Gly1039Cys)
|
rs764282256
|
0.00004
|
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His)
|
rs148464130
|
0.00004
|
NM_001854.4(COL11A1):c.3230C>T (p.Pro1077Leu)
|
rs373734529
|
0.00004
|
NM_001854.4(COL11A1):c.3417C>T (p.Ser1139=)
|
rs775702250
|
0.00004
|
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val)
|
rs138507620
|
0.00004
|
NM_001854.4(COL11A1):c.3866C>G (p.Ala1289Gly)
|
rs759561852
|
0.00004
|
NM_001854.4(COL11A1):c.4066C>T (p.Pro1356Ser)
|
rs772400369
|
0.00004
|
NM_001854.4(COL11A1):c.4141-8T>A
|
rs373760183
|
0.00004
|
NM_001854.4(COL11A1):c.4178G>A (p.Gly1393Asp)
|
rs761963308
|
0.00004
|
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=)
|
rs917541931
|
0.00004
|
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)
|
rs558548172
|
0.00004
|
NM_001854.4(COL11A1):c.4656A>G (p.Lys1552=)
|
rs769593192
|
0.00004
|
NM_001854.4(COL11A1):c.4858+6T>C
|
rs138202640
|
0.00004
|
NM_001854.4(COL11A1):c.4925C>T (p.Thr1642Ile)
|
rs1173031118
|
0.00004
|
NM_001854.4(COL11A1):c.510C>T (p.Ser170=)
|
rs749497678
|
0.00004
|
NM_001854.4(COL11A1):c.5414T>A (p.Leu1805His)
|
rs779088327
|
0.00004
|
NM_001854.4(COL11A1):c.70T>C (p.Leu24=)
|
rs757861232
|
0.00004
|
NM_001854.4(COL11A1):c.781-10T>C
|
rs530565995
|
0.00004
|
NM_001854.4(COL11A1):c.784G>A (p.Ala262Thr)
|
rs777664906
|
0.00004
|
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu)
|
rs945959591
|
0.00004
|
NM_001854.4(COL11A1):c.897+11A>G
|
rs900322028
|
0.00004
|
NM_001854.4(COL11A1):c.903C>A (p.Asn301Lys)
|
rs112484990
|
0.00004
|
NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr)
|
rs779346604
|
0.00004
|
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn)
|
rs199942159
|
0.00003
|
NM_001854.4(COL11A1):c.1043A>T (p.Tyr348Phe)
|
rs539811607
|
0.00003
|
NM_001854.4(COL11A1):c.1137C>T (p.Gly379=)
|
rs745798103
|
0.00003
|
NM_001854.4(COL11A1):c.1147T>A (p.Phe383Ile)
|
rs368746938
|
0.00003
|
NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser)
|
rs1156500992
|
0.00003
|
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=)
|
rs371490794
|
0.00003
|
NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val)
|
rs775644641
|
0.00003
|
NM_001854.4(COL11A1):c.1341A>G (p.Ala447=)
|
rs372963982
|
0.00003
|
NM_001854.4(COL11A1):c.1426C>T (p.Arg476Cys)
|
rs756352775
|
0.00003
|
NM_001854.4(COL11A1):c.1488G>A (p.Pro496=)
|
rs772310071
|
0.00003
|
NM_001854.4(COL11A1):c.1998+11C>T
|
rs375664445
|
0.00003
|
NM_001854.4(COL11A1):c.2143-18T>A
|
rs761940869
|
0.00003
|
NM_001854.4(COL11A1):c.2143-5A>G
|
rs749510866
|
0.00003
|
NM_001854.4(COL11A1):c.2280C>T (p.Gly760=)
|
rs745385206
|
0.00003
|
NM_001854.4(COL11A1):c.2397A>T (p.Gly799=)
|
rs781179434
|
0.00003
|
NM_001854.4(COL11A1):c.2506A>G (p.Lys836Glu)
|
rs1319482941
|
0.00003
|
NM_001854.4(COL11A1):c.274+13T>C
|
rs778490820
|
0.00003
|
NM_001854.4(COL11A1):c.2859G>A (p.Glu953=)
|
rs758201913
|
0.00003
|
NM_001854.4(COL11A1):c.2925C>T (p.Thr975=)
|
rs369136682
|
0.00003
|
NM_001854.4(COL11A1):c.3169-15T>C
|
rs1457371081
|
0.00003
|
NM_001854.4(COL11A1):c.3344C>T (p.Pro1115Leu)
|
rs958678153
|
0.00003
|
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=)
|
rs375400337
|
0.00003
|
NM_001854.4(COL11A1):c.35G>A (p.Arg12Gln)
|
rs767496065
|
0.00003
|
NM_001854.4(COL11A1):c.3652A>G (p.Met1218Val)
|
rs951017335
|
0.00003
|
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu)
|
rs750838060
|
0.00003
|
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser)
|
rs370988085
|
0.00003
|
NM_001854.4(COL11A1):c.4032+5G>A
|
rs770333147
|
0.00003
|
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg)
|
rs986400534
|
0.00003
|
NM_001854.4(COL11A1):c.4140+6A>G
|
rs191656980
|
0.00003
|
NM_001854.4(COL11A1):c.4176C>A (p.Thr1392=)
|
rs750903509
|
0.00003
|
NM_001854.4(COL11A1):c.4213G>A (p.Gly1405Ser)
|
rs376137502
|
0.00003
|
NM_001854.4(COL11A1):c.426C>T (p.His142=)
|
rs561435432
|
0.00003
|
NM_001854.4(COL11A1):c.4554+19G>C
|
rs200793857
|
0.00003
|
NM_001854.4(COL11A1):c.4561G>A (p.Ala1521Thr)
|
rs769920499
|
0.00003
|
NM_001854.4(COL11A1):c.4749C>T (p.Leu1583=)
|
rs533761924
|
0.00003
|
NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=)
|
rs770392400
|
0.00003
|
NM_001854.4(COL11A1):c.602A>G (p.Asn201Ser)
|
rs201647477
|
0.00003
|
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)
|
rs141304474
|
0.00003
|
NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met)
|
rs544289862
|
0.00002
|
NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys)
|
rs761451204
|
0.00002
|
NM_001854.4(COL11A1):c.1055G>A (p.Arg352Lys)
|
rs763739377
|
0.00002
|
NM_001854.4(COL11A1):c.1098C>T (p.Asp366=)
|
rs369719875
|
0.00002
|
NM_001854.4(COL11A1):c.1309-7G>A
|
rs748684225
|
0.00002
|
NM_001854.4(COL11A1):c.1311T>C (p.Gly437=)
|
rs958593292
|
0.00002
|
NM_001854.4(COL11A1):c.1629+19G>A
|
rs1048925411
|
0.00002
|
NM_001854.4(COL11A1):c.1654A>G (p.Lys552Glu)
|
rs1377225041
|
0.00002
|
NM_001854.4(COL11A1):c.1845+11T>G
|
rs201513205
|
0.00002
|
NM_001854.4(COL11A1):c.194A>G (p.Lys65Arg)
|
rs200396868
|
0.00002
|
NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser)
|
rs375314757
|
0.00002
|
NM_001854.4(COL11A1):c.2076A>G (p.Gln692=)
|
rs768247115
|
0.00002
|
NM_001854.4(COL11A1):c.2241+3A>G
|
rs759793105
|
0.00002
|
NM_001854.4(COL11A1):c.2276C>T (p.Pro759Leu)
|
rs749290763
|
0.00002
|
NM_001854.4(COL11A1):c.2520A>G (p.Pro840=)
|
rs942911563
|
0.00002
|
NM_001854.4(COL11A1):c.2722G>A (p.Gly908Ser)
|
rs758953085
|
0.00002
|
NM_001854.4(COL11A1):c.2754+4C>T
|
rs201183993
|
0.00002
|
NM_001854.4(COL11A1):c.2759C>G (p.Pro920Arg)
|
rs751341336
|
0.00002
|
NM_001854.4(COL11A1):c.2780T>C (p.Val927Ala)
|
rs776051361
|
0.00002
|
NM_001854.4(COL11A1):c.2813C>G (p.Pro938Arg)
|
rs780040764
|
0.00002
|
NM_001854.4(COL11A1):c.3170G>C (p.Gly1057Ala)
|
rs1419574444
|
0.00002
|
NM_001854.4(COL11A1):c.3287G>C (p.Gly1096Ala)
|
rs772562171
|
0.00002
|
NM_001854.4(COL11A1):c.3361T>G (p.Ser1121Ala)
|
rs778937772
|
0.00002
|
NM_001854.4(COL11A1):c.3493-5T>G
|
rs746535602
|
0.00002
|
NM_001854.4(COL11A1):c.3706G>A (p.Asp1236Asn)
|
rs140292959
|
0.00002
|
NM_001854.4(COL11A1):c.4233C>T (p.Gly1411=)
|
rs139726483
|
0.00002
|
NM_001854.4(COL11A1):c.4249G>A (p.Gly1417Arg)
|
rs752921387
|
0.00002
|
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=)
|
rs762511819
|
0.00002
|
NM_001854.4(COL11A1):c.4336C>T (p.Pro1446Ser)
|
rs975763978
|
0.00002
|
NM_001854.4(COL11A1):c.4560C>T (p.Pro1520=)
|
rs780129997
|
0.00002
|
NM_001854.4(COL11A1):c.4608+7A>G
|
rs760018604
|
0.00002
|
NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=)
|
rs3753842
|
0.00002
|
NM_001854.4(COL11A1):c.475A>G (p.Ile159Val)
|
rs774693614
|
0.00002
|
NM_001854.4(COL11A1):c.4761A>G (p.Lys1587=)
|
rs375667862
|
0.00002
|
NM_001854.4(COL11A1):c.483C>T (p.Asp161=)
|
rs557000127
|
0.00002
|
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser)
|
rs377036654
|
0.00002
|
NM_001854.4(COL11A1):c.611C>T (p.Thr204Met)
|
rs199595073
|
0.00002
|
NM_001854.4(COL11A1):c.652-19del
|
rs772697451
|
0.00002
|
NM_001854.4(COL11A1):c.771G>A (p.Gln257=)
|
rs375246473
|
0.00002
|
NM_001854.4(COL11A1):c.818A>G (p.Tyr273Cys)
|
rs763484552
|
0.00002
|
NM_001854.4(COL11A1):c.81C>A (p.Leu27=)
|
rs1027288806
|
0.00002
|
NM_001854.4(COL11A1):c.822G>A (p.Gly274=)
|
rs371943463
|
0.00002
|
NM_001854.4(COL11A1):c.921A>G (p.Gln307=)
|
rs534711652
|
0.00002
|
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter)
|
rs776004614
|
0.00001
|
NM_001854.4(COL11A1):c.1009A>G (p.Ile337Val)
|
rs746403396
|
0.00001
|
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg)
|
rs751155680
|
0.00001
|
NM_001854.4(COL11A1):c.1054A>T (p.Arg352Trp)
|
rs1402379236
|
0.00001
|
NM_001854.4(COL11A1):c.105A>C (p.Gly35=)
|
rs754255266
|
0.00001
|
NM_001854.4(COL11A1):c.106+11A>G
|
rs766679266
|
0.00001
|
NM_001854.4(COL11A1):c.107-8T>C
|
rs1029539954
|
0.00001
|
NM_001854.4(COL11A1):c.1090G>A (p.Glu364Lys)
|
rs747054416
|
0.00001
|
NM_001854.4(COL11A1):c.1096G>A (p.Asp366Asn)
|
rs773168949
|
0.00001
|
NM_001854.4(COL11A1):c.1099G>A (p.Gly367Ser)
|
rs748391176
|
0.00001
|
NM_001854.4(COL11A1):c.1100G>A (p.Gly367Asp)
|
rs1402186540
|
0.00001
|
NM_001854.4(COL11A1):c.1129G>T (p.Asp377Tyr)
|
rs376421641
|
0.00001
|
NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala)
|
rs538837278
|
0.00001
|
NM_001854.4(COL11A1):c.1188C>T (p.Pro396=)
|
rs766841299
|
0.00001
|
NM_001854.4(COL11A1):c.1211G>A (p.Gly404Asp)
|
rs748335883
|
0.00001
|
NM_001854.4(COL11A1):c.1245+9A>T
|
rs1571067732
|
0.00001
|
NM_001854.4(COL11A1):c.1309-4A>G
|
rs1006564948
|
0.00001
|
NM_001854.4(COL11A1):c.1321G>A (p.Glu441Lys)
|
rs995254814
|
0.00001
|
NM_001854.4(COL11A1):c.132A>C (p.Ala44=)
|
rs752983343
|
0.00001
|
NM_001854.4(COL11A1):c.1351-4A>G
|
rs748736206
|
0.00001
|
NM_001854.4(COL11A1):c.1356T>C (p.Ile452=)
|
rs1388781448
|
0.00001
|
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile)
|
rs755173952
|
0.00001
|
NM_001854.4(COL11A1):c.1413+6T>C
|
rs1337013861
|
0.00001
|
NM_001854.4(COL11A1):c.1414-9T>A
|
rs794727062
|
0.00001
|
NM_001854.4(COL11A1):c.1487C>T (p.Pro496Leu)
|
rs371793829
|
0.00001
|
NM_001854.4(COL11A1):c.1489-12A>G
|
rs1023414909
|
0.00001
|
NM_001854.4(COL11A1):c.1489-18A>C
|
rs374324829
|
0.00001
|
NM_001854.4(COL11A1):c.1493G>A (p.Arg498His)
|
rs545363972
|
0.00001
|
NM_001854.4(COL11A1):c.1523C>T (p.Thr508Ile)
|
rs1432496942
|
0.00001
|
NM_001854.4(COL11A1):c.1537G>A (p.Glu513Lys)
|
rs1288240581
|
0.00001
|
NM_001854.4(COL11A1):c.1541C>T (p.Ala514Val)
|
rs374636016
|
0.00001
|
NM_001854.4(COL11A1):c.1564C>A (p.Gln522Lys)
|
rs1417430030
|
0.00001
|
NM_001854.4(COL11A1):c.1571G>A (p.Arg524Gln)
|
rs1045481406
|
0.00001
|
NM_001854.4(COL11A1):c.157G>A (p.Gly53Arg)
|
rs1230337575
|
0.00001
|
NM_001854.4(COL11A1):c.1600A>G (p.Met534Val)
|
rs1374892742
|
0.00001
|
NM_001854.4(COL11A1):c.1624C>T (p.Pro542Ser)
|
rs745841296
|
0.00001
|
NM_001854.4(COL11A1):c.1629+14A>C
|
rs780721477
|
0.00001
|
NM_001854.4(COL11A1):c.1706C>T (p.Pro569Leu)
|
rs760689529
|
0.00001
|
NM_001854.4(COL11A1):c.1708C>T (p.Pro570Ser)
|
rs1194226000
|
0.00001
|
NM_001854.4(COL11A1):c.1717A>G (p.Thr573Ala)
|
rs560019202
|
0.00001
|
NM_001854.4(COL11A1):c.1719G>C (p.Thr573=)
|
rs773940700
|
0.00001
|
NM_001854.4(COL11A1):c.1737+19G>A
|
rs1389217228
|
0.00001
|
NM_001854.4(COL11A1):c.1744C>T (p.Pro582Ser)
|
rs746192125
|
0.00001
|
NM_001854.4(COL11A1):c.1771C>A (p.Pro591Thr)
|
rs1259922538
|
0.00001
|
NM_001854.4(COL11A1):c.1776A>T (p.Gly592=)
|
rs1211057639
|
0.00001
|
NM_001854.4(COL11A1):c.1859C>T (p.Pro620Leu)
|
rs777479105
|
0.00001
|
NM_001854.4(COL11A1):c.1885G>A (p.Asp629Asn)
|
rs551653403
|
0.00001
|
NM_001854.4(COL11A1):c.1899+16T>G
|
rs767808576
|
0.00001
|
NM_001854.4(COL11A1):c.1899+8A>G
|
rs372864068
|
0.00001
|
NM_001854.4(COL11A1):c.1913A>C (p.Glu638Ala)
|
rs1665410595
|
0.00001
|
NM_001854.4(COL11A1):c.191G>A (p.Arg64Lys)
|
rs1272896075
|
0.00001
|
NM_001854.4(COL11A1):c.1977T>C (p.Thr659=)
|
rs979334056
|
0.00001
|
NM_001854.4(COL11A1):c.1998+20T>C
|
rs769773932
|
0.00001
|
NM_001854.4(COL11A1):c.1999G>A (p.Gly667Ser)
|
rs760878512
|
0.00001
|
NM_001854.4(COL11A1):c.2044-15A>G
|
rs1321602196
|
0.00001
|
NM_001854.4(COL11A1):c.2044-3C>A
|
rs1429349126
|
0.00001
|
NM_001854.4(COL11A1):c.2058G>T (p.Glu686Asp)
|
rs369536049
|
0.00001
|
NM_001854.4(COL11A1):c.2106T>C (p.Pro702=)
|
rs1361529219
|
0.00001
|
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=)
|
rs544663655
|
0.00001
|
NM_001854.4(COL11A1):c.2142+12T>C
|
rs1665143931
|
0.00001
|
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)
|
rs56230601
|
0.00001
|
NM_001854.4(COL11A1):c.2173C>T (p.Leu725Phe)
|
rs1450257151
|
0.00001
|
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu)
|
rs754657948
|
0.00001
|
NM_001854.4(COL11A1):c.2191C>T (p.Pro731Ser)
|
rs753495125
|
0.00001
|
NM_001854.4(COL11A1):c.2196+15C>T
|
rs768084384
|
0.00001
|
NM_001854.4(COL11A1):c.2197-5T>C
|
rs1411336516
|
0.00001
|
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg)
|
rs775660447
|
0.00001
|
NM_001854.4(COL11A1):c.2266A>G (p.Ile756Val)
|
rs1190680048
|
0.00001
|
NM_001854.4(COL11A1):c.2270G>T (p.Gly757Val)
|
rs1664589837
|
0.00001
|
NM_001854.4(COL11A1):c.2340+20A>G
|
rs1664575112
|
0.00001
|
NM_001854.4(COL11A1):c.2341-17C>T
|
rs563271014
|
0.00001
|
NM_001854.4(COL11A1):c.2346A>T (p.Glu782Asp)
|
rs780097762
|
0.00001
|
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)
|
rs372419698
|
0.00001
|
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu)
|
rs1308067070
|
0.00001
|
NM_001854.4(COL11A1):c.2543G>T (p.Arg848Ile)
|
rs781206372
|
0.00001
|
NM_001854.4(COL11A1):c.2556+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.2608C>T (p.Arg870Trp)
|
rs778379327
|
0.00001
|
NM_001854.4(COL11A1):c.2610+9T>C
|
rs754222130
|
0.00001
|
NM_001854.4(COL11A1):c.2635C>T (p.Arg879Trp)
|
rs771754817
|
0.00001
|
NM_001854.4(COL11A1):c.2645G>A (p.Arg882His)
|
rs779869745
|
0.00001
|
NM_001854.4(COL11A1):c.2710-15T>C
|
rs771270317
|
0.00001
|
NM_001854.4(COL11A1):c.2710-16C>A
|
rs1428781981
|
0.00001
|
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn)
|
rs779028602
|
0.00001
|
NM_001854.4(COL11A1):c.2754+8T>C
|
rs1163729765
|
0.00001
|
NM_001854.4(COL11A1):c.2762A>G (p.Gln921Arg)
|
rs764047909
|
0.00001
|
NM_001854.4(COL11A1):c.2778A>C (p.Pro926=)
|
rs200115284
|
0.00001
|
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His)
|
rs368422725
|
0.00001
|
NM_001854.4(COL11A1):c.2808+14C>G
|
rs1015791965
|
0.00001
|
NM_001854.4(COL11A1):c.2862+20T>C
|
rs1042693367
|
0.00001
|
NM_001854.4(COL11A1):c.2863-3T>A
|
rs771325957
|
0.00001
|
NM_001854.4(COL11A1):c.2916+14C>G
|
rs527387345
|
0.00001
|
NM_001854.4(COL11A1):c.2917-10T>C
|
rs1486230467
|
0.00001
|
NM_001854.4(COL11A1):c.2926G>A (p.Gly976Ser)
|
rs763187998
|
0.00001
|
NM_001854.4(COL11A1):c.2951G>A (p.Arg984His)
|
rs147271219
|
0.00001
|
NM_001854.4(COL11A1):c.3025-14A>T
|
rs903818490
|
0.00001
|
NM_001854.4(COL11A1):c.3031C>A (p.Pro1011Thr)
|
rs578210032
|
0.00001
|
NM_001854.4(COL11A1):c.3044G>T (p.Gly1015Val)
|
rs1343845258
|
0.00001
|
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)
|
rs1040168773
|
0.00001
|
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys)
|
rs377320274
|
0.00001
|
NM_001854.4(COL11A1):c.3077G>A (p.Arg1026His)
|
rs944650989
|
0.00001
|
NM_001854.4(COL11A1):c.3114+16A>G
|
rs980712864
|
0.00001
|
NM_001854.4(COL11A1):c.3115-20A>G
|
rs1553218201
|
0.00001
|
NM_001854.4(COL11A1):c.3115-5C>T
|
rs757323732
|
0.00001
|
NM_001854.4(COL11A1):c.3117T>C (p.Gly1039=)
|
rs763205071
|
0.00001
|
NM_001854.4(COL11A1):c.3137G>A (p.Gly1046Glu)
|
rs773157346
|
0.00001
|
NM_001854.4(COL11A1):c.3147C>G (p.Pro1049=)
|
rs539284752
|
0.00001
|
NM_001854.4(COL11A1):c.3185G>A (p.Arg1062His)
|
rs1234848212
|
0.00001
|
NM_001854.4(COL11A1):c.319C>T (p.Pro107Ser)
|
rs1298293526
|
0.00001
|
NM_001854.4(COL11A1):c.3210A>G (p.Pro1070=)
|
rs1413151845
|
0.00001
|
NM_001854.4(COL11A1):c.322A>G (p.Lys108Glu)
|
rs752692524
|
0.00001
|
NM_001854.4(COL11A1):c.3241G>C (p.Gly1081Arg)
|
rs397514455
|
0.00001
|
NM_001854.4(COL11A1):c.3271G>A (p.Ala1091Thr)
|
rs1450713198
|
0.00001
|
NM_001854.4(COL11A1):c.3276+11T>C
|
rs747403311
|
0.00001
|
NM_001854.4(COL11A1):c.3277-5T>C
|
rs1469425202
|
0.00001
|
NM_001854.4(COL11A1):c.3283A>G (p.Lys1095Glu)
|
rs761001181
|
0.00001
|
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=)
|
rs768553239
|
0.00001
|
NM_001854.4(COL11A1):c.3319C>G (p.Gln1107Glu)
|
rs1011001694
|
0.00001
|
NM_001854.4(COL11A1):c.331A>T (p.Ile111Phe)
|
rs759153754
|
0.00001
|
NM_001854.4(COL11A1):c.3383A>G (p.Lys1128Arg)
|
rs1658589699
|
0.00001
|
NM_001854.4(COL11A1):c.3385-19T>A
|
rs754980052
|
0.00001
|
NM_001854.4(COL11A1):c.3387T>C (p.Gly1129=)
|
rs533984546
|
0.00001
|
NM_001854.4(COL11A1):c.3397G>C (p.Glu1133Gln)
|
rs757517185
|
0.00001
|
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu)
|
rs764478054
|
0.00001
|
NM_001854.4(COL11A1):c.3402G>A (p.Pro1134=)
|
rs763588142
|
0.00001
|
NM_001854.4(COL11A1):c.3427A>G (p.Lys1143Glu)
|
rs1182148061
|
0.00001
|
NM_001854.4(COL11A1):c.3492+7A>G
|
rs769773255
|
0.00001
|
NM_001854.4(COL11A1):c.3493-17T>C
|
rs776451100
|
0.00001
|
NM_001854.4(COL11A1):c.3496G>T (p.Gly1166Cys)
|
rs777456846
|
0.00001
|
NM_001854.4(COL11A1):c.353T>C (p.Ile118Thr)
|
rs1261502451
|
0.00001
|
NM_001854.4(COL11A1):c.3568T>C (p.Phe1190Leu)
|
rs1377819809
|
0.00001
|
NM_001854.4(COL11A1):c.3601-11T>C
|
rs746304790
|
0.00001
|
NM_001854.4(COL11A1):c.3601-15A>G
|
rs775785452
|
0.00001
|
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu)
|
rs753649097
|
0.00001
|
NM_001854.4(COL11A1):c.365A>C (p.His122Pro)
|
rs1315092621
|
0.00001
|
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser)
|
rs778311240
|
0.00001
|
NM_001854.4(COL11A1):c.3709-5T>C
|
rs1437636370
|
0.00001
|
NM_001854.4(COL11A1):c.3763-10C>T
|
rs754484644
|
0.00001
|
NM_001854.4(COL11A1):c.3763-4A>G
|
rs1194043670
|
0.00001
|
NM_001854.4(COL11A1):c.3763-5T>C
|
rs1272015455
|
0.00001
|
NM_001854.4(COL11A1):c.3763-7T>C
|
rs753445568
|
0.00001
|
NM_001854.4(COL11A1):c.3776A>C (p.Glu1259Ala)
|
rs1232967796
|
0.00001
|
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu)
|
rs767905237
|
0.00001
|
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=)
|
rs372122122
|
0.00001
|
NM_001854.4(COL11A1):c.3794C>T (p.Pro1265Leu)
|
rs775808299
|
0.00001
|
NM_001854.4(COL11A1):c.3816C>T (p.Gly1272=)
|
rs973061092
|
0.00001
|
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp)
|
rs780739712
|
0.00001
|
NM_001854.4(COL11A1):c.3869C>G (p.Ala1290Gly)
|
rs199555214
|
0.00001
|
NM_001854.4(COL11A1):c.3874C>A (p.Pro1292Thr)
|
rs1271972029
|
0.00001
|
NM_001854.4(COL11A1):c.3911C>G (p.Pro1304Arg)
|
rs1416828428
|
0.00001
|
NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu)
|
rs769308801
|
0.00001
|
NM_001854.4(COL11A1):c.3938T>A (p.Phe1313Tyr)
|
rs200014253
|
0.00001
|
NM_001854.4(COL11A1):c.3979-11G>A
|
rs376294063
|
0.00001
|
NM_001854.4(COL11A1):c.3982C>A (p.Gln1328Lys)
|
rs750014974
|
0.00001
|
NM_001854.4(COL11A1):c.4031C>T (p.Pro1344Leu)
|
rs528959090
|
0.00001
|
NM_001854.4(COL11A1):c.4033-10C>T
|
rs763204252
|
0.00001
|
NM_001854.4(COL11A1):c.4033-7T>C
|
rs765726939
|
0.00001
|
NM_001854.4(COL11A1):c.4036C>T (p.Pro1346Ser)
|
rs1233186933
|
0.00001
|
NM_001854.4(COL11A1):c.4091C>A (p.Pro1364His)
|
rs746495082
|
0.00001
|
NM_001854.4(COL11A1):c.4141-11C>T
|
rs771566681
|
0.00001
|
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile)
|
rs780411112
|
0.00001
|
NM_001854.4(COL11A1):c.4225C>T (p.Leu1409Phe)
|
rs1435827751
|
0.00001
|
NM_001854.4(COL11A1):c.425A>G (p.His142Arg)
|
rs1672171605
|
0.00001
|
NM_001854.4(COL11A1):c.4325T>C (p.Leu1442Pro)
|
rs1339382600
|
0.00001
|
NM_001854.4(COL11A1):c.4357-11G>A
|
rs759116881
|
0.00001
|
NM_001854.4(COL11A1):c.4359A>G (p.Gly1453=)
|
rs573203662
|
0.00001
|
NM_001854.4(COL11A1):c.437C>T (p.Pro146Leu)
|
rs543199135
|
0.00001
|
NM_001854.4(COL11A1):c.4387C>A (p.Pro1463Thr)
|
rs1261468907
|
0.00001
|
NM_001854.4(COL11A1):c.4388C>A (p.Pro1463His)
|
rs202194245
|
0.00001
|
NM_001854.4(COL11A1):c.4390C>T (p.Pro1464Ser)
|
rs1651475810
|
0.00001
|
NM_001854.4(COL11A1):c.4411G>A (p.Gly1471Ser)
|
rs1057522949
|
0.00001
|
NM_001854.4(COL11A1):c.4425C>G (p.Leu1475=)
|
rs376841140
|
0.00001
|
NM_001854.4(COL11A1):c.442C>G (p.Pro148Ala)
|
rs1322123798
|
0.00001
|
NM_001854.4(COL11A1):c.4439G>T (p.Gly1480Val)
|
rs759091446
|
0.00001
|
NM_001854.4(COL11A1):c.4452A>G (p.Ala1484=)
|
rs1289745561
|
0.00001
|
NM_001854.4(COL11A1):c.4464+14T>C
|
rs762282588
|
0.00001
|
NM_001854.4(COL11A1):c.4464+15A>G
|
rs774699566
|
0.00001
|
NM_001854.4(COL11A1):c.4518+10A>G
|
rs897560173
|
0.00001
|
NM_001854.4(COL11A1):c.4519-15A>G
|
rs764392474
|
0.00001
|
NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro)
|
rs1057521422
|
0.00001
|
NM_001854.4(COL11A1):c.4545A>G (p.Lys1515=)
|
rs575231157
|
0.00001
|
NM_001854.4(COL11A1):c.4554+3A>G
|
rs1325395705
|
0.00001
|
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg)
|
rs146997967
|
0.00001
|
NM_001854.4(COL11A1):c.4609-8C>A
|
rs777390779
|
0.00001
|
NM_001854.4(COL11A1):c.4615C>T (p.Pro1539Ser)
|
rs1374575593
|
0.00001
|
NM_001854.4(COL11A1):c.4618G>A (p.Gly1540Ser)
|
rs933062306
|
0.00001
|
NM_001854.4(COL11A1):c.4650C>T (p.Ser1550=)
|
rs767709700
|
0.00001
|
NM_001854.4(COL11A1):c.4665A>T (p.Arg1555Ser)
|
rs149516921
|
0.00001
|
NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=)
|
rs202048103
|
0.00001
|
NM_001854.4(COL11A1):c.4679G>A (p.Gly1560Asp)
|
rs1465324011
|
0.00001
|
NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr)
|
rs780611200
|
0.00001
|
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly)
|
rs756511227
|
0.00001
|
NM_001854.4(COL11A1):c.4711G>T (p.Asp1571Tyr)
|
rs1277867710
|
0.00001
|
NM_001854.4(COL11A1):c.4717T>C (p.Ser1573Pro)
|
rs865904271
|
0.00001
|
NM_001854.4(COL11A1):c.4750A>T (p.Asn1584Tyr)
|
rs1470853407
|
0.00001
|
NM_001854.4(COL11A1):c.4767C>T (p.Asp1589=)
|
rs768263147
|
0.00001
|
NM_001854.4(COL11A1):c.477C>T (p.Ile159=)
|
rs769155547
|
0.00001
|
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr)
|
rs146954848
|
0.00001
|
NM_001854.4(COL11A1):c.4792G>A (p.Gly1598Ser)
|
rs757388014
|
0.00001
|
NM_001854.4(COL11A1):c.4858+15C>T
|
rs1054091121
|
0.00001
|
NM_001854.4(COL11A1):c.4859-19A>G
|
rs146179957
|
0.00001
|
NM_001854.4(COL11A1):c.4859-3T>C
|
rs774985706
|
0.00001
|
NM_001854.4(COL11A1):c.4859-9A>G
|
rs763472511
|
0.00001
|
NM_001854.4(COL11A1):c.488+14T>C
|
rs920388545
|
0.00001
|
NM_001854.4(COL11A1):c.489-14C>T
|
rs376366228
|
0.00001
|
NM_001854.4(COL11A1):c.4894G>A (p.Gly1632Arg)
|
rs1650488322
|
0.00001
|
NM_001854.4(COL11A1):c.4897G>A (p.Asp1633Asn)
|
rs1303443553
|
0.00001
|
NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp)
|
rs780211105
|
0.00001
|
NM_001854.4(COL11A1):c.4971+19T>A
|
rs757107063
|
0.00001
|
NM_001854.4(COL11A1):c.4972-15G>T
|
rs774357717
|
0.00001
|
NM_001854.4(COL11A1):c.5040+9T>C
|
rs752691314
|
0.00001
|
NM_001854.4(COL11A1):c.511G>A (p.Val171Met)
|
rs751182532
|
0.00001
|
NM_001854.4(COL11A1):c.512T>C (p.Val171Ala)
|
rs764504302
|
0.00001
|
NM_001854.4(COL11A1):c.5304T>C (p.Ile1768=)
|
rs1036630733
|
0.00001
|
NM_001854.4(COL11A1):c.534G>C (p.Met178Ile)
|
rs758827956
|
0.00001
|
NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg)
|
rs1351190778
|
0.00001
|
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg)
|
rs925433052
|
0.00001
|
NM_001854.4(COL11A1):c.54C>T (p.Thr18=)
|
rs776686564
|
0.00001
|
NM_001854.4(COL11A1):c.682G>A (p.Asp228Asn)
|
rs746487895
|
0.00001
|
NM_001854.4(COL11A1):c.687C>G (p.Pro229=)
|
rs746387208
|
0.00001
|
NM_001854.4(COL11A1):c.747G>A (p.Lys249=)
|
rs1199504042
|
0.00001
|
NM_001854.4(COL11A1):c.765A>G (p.Glu255=)
|
rs746077929
|
0.00001
|
NM_001854.4(COL11A1):c.777T>C (p.Asp259=)
|
rs1010215837
|
0.00001
|
NM_001854.4(COL11A1):c.782A>G (p.Tyr261Cys)
|
rs1204523782
|
0.00001
|
NM_001854.4(COL11A1):c.792G>A (p.Glu264=)
|
rs755887906
|
0.00001
|
NM_001854.4(COL11A1):c.801C>T (p.Ile267=)
|
rs780965578
|
0.00001
|
NM_001854.4(COL11A1):c.840G>A (p.Glu280=)
|
rs777095769
|
0.00001
|
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr)
|
rs748315186
|
0.00001
|
NM_001854.4(COL11A1):c.871A>G (p.Thr291Ala)
|
rs778869762
|
0.00001
|
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met)
|
rs398123652
|
0.00001
|
NM_001854.4(COL11A1):c.924A>G (p.Glu308=)
|
rs1010235940
|
0.00001
|
NM_001854.4(COL11A1):c.933T>C (p.Tyr311=)
|
rs762903488
|
0.00001
|
NM_001854.4(COL11A1):c.947G>A (p.Ser316Asn)
|
rs765019834
|
0.00001
|
NM_001854.4(COL11A1):c.973G>T (p.Val325Phe)
|
rs746633493
|
0.00001
|
NM_001854.4(COL11A1):c.97G>A (p.Val33Ile)
|
rs755307749
|
0.00001
|
NM_001854.4(COL11A1):c.990+11T>G
|
rs750665036
|
0.00001
|
NM_001854.4(COL11A1):c.990+8G>A
|
rs756299328
|
0.00001
|
NM_001854.4(COL11A1):c.992C>T (p.Pro331Leu)
|
rs148978696
|
0.00001
|
NC_000001.10:g.(?_103343575)_(103388965_?)del
|
|
|
NC_000001.10:g.(?_103343575)_(103573734_?)del
|
|
|
NC_000001.10:g.(?_103343575)_(103573734_?)dup
|
|
|
NC_000001.10:g.(?_103345219)_(103348887_?)del
|
|
|
NC_000001.10:g.(?_103345219)_(103356080_?)del
|
|
|
NC_000001.10:g.(?_103363661)_(103364570_?)dup
|
|
|
NC_000001.10:g.(?_103364202)_(103364570_?)dup
|
|
|
NC_000001.10:g.(?_103377695)_(103379266_?)del
|
|
|
NC_000001.10:g.(?_103377695)_(103381260_?)del
|
|
|
NC_000001.10:g.(?_103377695)_(103412532_?)del
|
|
|
NC_000001.10:g.(?_103380260)_(103548528_?)del
|
|
|
NC_000001.10:g.(?_103385847)_(103496820_?)del
|
|
|
NC_000001.10:g.(?_103388872)_(103388965_?)del
|
|
|
NC_000001.10:g.(?_103404571)_(103404664_?)del
|
|
|
NC_000001.10:g.(?_103412385)_(103449767_?)del
|
|
|
NC_000001.10:g.(?_103427402)_(103573734_?)del
|
|
|
NC_000001.10:g.(?_103431023)_(103431116_?)del
|
|
|
NC_000001.10:g.(?_103444244)_(103444489_?)del
|
|
|
NC_000001.10:g.(?_103444244)_(103573734_?)dup
|
|
|
NC_000001.10:g.(?_103444631)_(103448784_?)del
|
|
|
NC_000001.10:g.(?_103467461)_(103468844_?)del
|
|
|
NC_000001.10:g.(?_103469980)_(103470237_?)dup
|
|
|
NC_000001.10:g.(?_103471374)_(103471891_?)dup
|
|
|
NC_000001.10:g.(?_103473999)_(103480170_?)del
|
|
|
NC_000001.10:g.(?_103473999)_(103496820_?)del
|
|
|
NC_000001.10:g.(?_103477949)_(103496820_?)del
|
|
|
NC_000001.10:g.(?_103480047)_(103480170_?)del
|
|
|
NC_000001.10:g.(?_103481204)_(103481318_?)del
|
|
|
NC_000001.10:g.(?_103484354)_(103496820_?)del
|
|
|
NC_000001.10:g.(?_103487243)_(103496820_?)del
|
|
|
NC_000001.10:g.(?_103491752)_(103491908_?)del
|
|
|
NC_000001.10:g.(?_103540154)_(103540356_?)dup
|
|
|
NC_000001.10:g.(?_103544194)_(103573734_?)dup
|
|
|
NC_000001.11:g.103008517dup
|
|
|
NM_001854.4(COL11A1):c.1000G>C (p.Val334Leu)
|
|
|
NM_001854.4(COL11A1):c.1011A>T (p.Ile337=)
|
rs563115409
|
|
NM_001854.4(COL11A1):c.1016C>T (p.Thr339Ile)
|
|
|
NM_001854.4(COL11A1):c.1021G>A (p.Glu341Lys)
|
|
|
NM_001854.4(COL11A1):c.1026T>A (p.Tyr342Ter)
|
|
|
NM_001854.4(COL11A1):c.1027C>T (p.Leu343=)
|
|
|
NM_001854.4(COL11A1):c.1029A>G (p.Leu343=)
|
|
|
NM_001854.4(COL11A1):c.1030A>G (p.Thr344Ala)
|
|
|
NM_001854.4(COL11A1):c.1043A>G (p.Tyr348Cys)
|
|
|
NM_001854.4(COL11A1):c.1045G>T (p.Asp349Tyr)
|
|
|
NM_001854.4(COL11A1):c.1057A>G (p.Lys353Glu)
|
rs2101946256
|
|
NM_001854.4(COL11A1):c.106+12T>C
|
|
|
NM_001854.4(COL11A1):c.106+17T>A
|
rs2102452869
|
|
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro)
|
rs141036911
|
|
NM_001854.4(COL11A1):c.1063T>G (p.Ser355Ala)
|
rs141036911
|
|
NM_001854.4(COL11A1):c.1068G>A (p.Glu356=)
|
|
|
NM_001854.4(COL11A1):c.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.1070A>T (p.Asp357Val)
|
|
|
NM_001854.4(COL11A1):c.1072A>G (p.Thr358Ala)
|
|
|
NM_001854.4(COL11A1):c.1078T>C (p.Tyr360His)
|
|
|
NM_001854.4(COL11A1):c.1087A>G (p.Lys363Glu)
|
|
|
NM_001854.4(COL11A1):c.1094T>C (p.Ile365Thr)
|
|
|
NM_001854.4(COL11A1):c.109G>T (p.Ala37Ser)
|
|
|
NM_001854.4(COL11A1):c.10T>C (p.Trp4Arg)
|
|
|
NM_001854.4(COL11A1):c.110C>T (p.Ala37Val)
|
|
|
NM_001854.4(COL11A1):c.1112A>G (p.Asp371Gly)
|
|
|
NM_001854.4(COL11A1):c.1114C>A (p.Leu372Ile)
|
|
|
NM_001854.4(COL11A1):c.112C>T (p.Pro38Ser)
|
|
|
NM_001854.4(COL11A1):c.113C>T (p.Pro38Leu)
|
|
|
NM_001854.4(COL11A1):c.1140A>G (p.Glu380=)
|
|
|
NM_001854.4(COL11A1):c.1144G>A (p.Asp382Asn)
|
rs1667210381
|
|
NM_001854.4(COL11A1):c.1154A>C (p.Glu385Ala)
|
rs2101945641
|
|
NM_001854.4(COL11A1):c.1155A>C (p.Glu385Asp)
|
rs1057524404
|
|
NM_001854.4(COL11A1):c.1157A>G (p.Tyr386Cys)
|
|
|
NM_001854.4(COL11A1):c.1162G>T (p.Glu388Ter)
|
|
|
NM_001854.4(COL11A1):c.1167T>C (p.Tyr389=)
|
rs1211693844
|
|
NM_001854.4(COL11A1):c.116T>C (p.Val39Ala)
|
|
|
NM_001854.4(COL11A1):c.1178C>A (p.Pro393Gln)
|
|
|
NM_001854.4(COL11A1):c.1178C>T (p.Pro393Leu)
|
|
|
NM_001854.4(COL11A1):c.1189C>G (p.Pro397Ala)
|
|
|
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer)
|
rs1343199316
|
|
NM_001854.4(COL11A1):c.1191T>C (p.Pro397=)
|
|
|
NM_001854.4(COL11A1):c.1191del (p.Asn398fs)
|
|
|
NM_001854.4(COL11A1):c.1194T>A (p.Asn398Lys)
|
rs1245661989
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.120T>A (p.Asp40Glu)
|
|
|
NM_001854.4(COL11A1):c.120T>C (p.Asp40=)
|
|
|
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.1231A>G (p.Ile411Val)
|
|
|
NM_001854.4(COL11A1):c.1235C>T (p.Thr412Ile)
|
|
|
NM_001854.4(COL11A1):c.1239A>C (p.Glu413Asp)
|
|
|
NM_001854.4(COL11A1):c.1240A>G (p.Thr414Ala)
|
|
|
NM_001854.4(COL11A1):c.1245+11dup
|
rs2101944799
|
|
NM_001854.4(COL11A1):c.1245+19C>T
|
|
|
NM_001854.4(COL11A1):c.1245+3A>C
|
rs1295102743
|
|
NM_001854.4(COL11A1):c.1245C>A (p.Ser415Arg)
|
rs371490794
|
|
NM_001854.4(COL11A1):c.1246-13T>C
|
|
|
NM_001854.4(COL11A1):c.1246-19T>C
|
|
|
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.1246A>G (p.Ile416Val)
|
rs1667095674
|
|
NM_001854.4(COL11A1):c.1253G>A (p.Gly418Asp)
|
|
|
NM_001854.4(COL11A1):c.1256A>G (p.His419Arg)
|
|
|
NM_001854.4(COL11A1):c.125T>C (p.Leu42Pro)
|
|
|
NM_001854.4(COL11A1):c.1261G>A (p.Ala421Thr)
|
rs763208504
|
|
NM_001854.4(COL11A1):c.1262C>A (p.Ala421Glu)
|
rs775644641
|
|
NM_001854.4(COL11A1):c.1263A>C (p.Ala421=)
|
|
|
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=)
|
rs760330151
|
|
NM_001854.4(COL11A1):c.1263A>T (p.Ala421=)
|
|
|
NM_001854.4(COL11A1):c.1265A>G (p.Tyr422Cys)
|
|
|
NM_001854.4(COL11A1):c.1275A>G (p.Lys425=)
|
|
|
NM_001854.4(COL11A1):c.1285G>C (p.Gly429Arg)
|
rs2101938209
|
|
NM_001854.4(COL11A1):c.129A>G (p.Lys43=)
|
|
|
NM_001854.4(COL11A1):c.1301T>C (p.Val434Ala)
|
|
|
NM_001854.4(COL11A1):c.1308+12T>C
|
|
|
NM_001854.4(COL11A1):c.1308+16A>G
|
|
|
NM_001854.4(COL11A1):c.1308+20C>A
|
rs750685039
|
|
NM_001854.4(COL11A1):c.1309-11del
|
|
|
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.1309G>A (p.Gly437Ser)
|
|
|
NM_001854.4(COL11A1):c.1309G>T (p.Gly437Cys)
|
|
|
NM_001854.4(COL11A1):c.1312A>G (p.Met438Val)
|
|
|
NM_001854.4(COL11A1):c.1313T>C (p.Met438Thr)
|
|
|
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.1338_1346del (p.446PAG[1])
|
|
|
NM_001854.4(COL11A1):c.133C>G (p.Leu45Val)
|
|
|
NM_001854.4(COL11A1):c.1343_1350+1dup
|
rs1417844465
|
|
NM_001854.4(COL11A1):c.1345C>A (p.Pro449Thr)
|
rs1262054654
|
|
NM_001854.4(COL11A1):c.1349C>A (p.Ala450Glu)
|
|
|
NM_001854.4(COL11A1):c.1350+12T>G
|
|
|
NM_001854.4(COL11A1):c.1350+19del
|
|
|
NM_001854.4(COL11A1):c.1351-15T>C
|
|
|
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.1351-3T>A
|
rs1296607621
|
|
NM_001854.4(COL11A1):c.1351-3T>C
|
|
|
NM_001854.4(COL11A1):c.1358T>C (p.Met453Thr)
|
|
|
NM_001854.4(COL11A1):c.1359G>C (p.Met453Ile)
|
|
|
NM_001854.4(COL11A1):c.1363C>T (p.Pro455Ser)
|
|
|
NM_001854.4(COL11A1):c.1367C>T (p.Pro456Leu)
|
rs754099465
|
|
NM_001854.4(COL11A1):c.1370G>A (p.Gly457Asp)
|
|
|
NM_001854.4(COL11A1):c.1371T>G (p.Gly457=)
|
|
|
NM_001854.4(COL11A1):c.1374A>G (p.Leu458=)
|
|
|
NM_001854.4(COL11A1):c.1379G>T (p.Gly460Val)
|
|
|
NM_001854.4(COL11A1):c.1380C>T (p.Gly460=)
|
|
|
NM_001854.4(COL11A1):c.1382C>T (p.Pro461Leu)
|
|
|
NM_001854.4(COL11A1):c.1385C>G (p.Thr462Ser)
|
|
|
NM_001854.4(COL11A1):c.1388G>A (p.Gly463Glu)
|
rs1475867666
|
|
NM_001854.4(COL11A1):c.1388G>T (p.Gly463Val)
|
|
|
NM_001854.4(COL11A1):c.1392C>T (p.Pro464=)
|
|
|
NM_001854.4(COL11A1):c.1393C>T (p.Pro465Ser)
|
|
|
NM_001854.4(COL11A1):c.1398T>C (p.Gly466=)
|
rs2101914853
|
|
NM_001854.4(COL11A1):c.1407C>T (p.Gly469=)
|
|
|
NM_001854.4(COL11A1):c.1408G>A (p.Asp470Asn)
|
|
|
NM_001854.4(COL11A1):c.1409A>T (p.Asp470Val)
|
|
|
NM_001854.4(COL11A1):c.1411A>C (p.Arg471=)
|
rs1342033027
|
|
NM_001854.4(COL11A1):c.1412G>C (p.Arg471Thr)
|
rs2101914738
|
|
NM_001854.4(COL11A1):c.1413+12G>A
|
|
|
NM_001854.4(COL11A1):c.1413+14C>G
|
rs2101914671
|
|
NM_001854.4(COL11A1):c.1413+15A>G
|
rs770531544
|
|
NM_001854.4(COL11A1):c.1413+17_1413+19del
|
|
|
NM_001854.4(COL11A1):c.1413+2del
|
|
|
NM_001854.4(COL11A1):c.1413+3A>G
|
|
|
NM_001854.4(COL11A1):c.1413+6T>G
|
|
|
NM_001854.4(COL11A1):c.1414-5T>C
|
rs2101905101
|
|
NM_001854.4(COL11A1):c.1417C>A (p.Pro473Thr)
|
rs1180040869
|
|
NM_001854.4(COL11A1):c.1431T>G (p.Pro477=)
|
|
|
NM_001854.4(COL11A1):c.1438C>T (p.Pro480Ser)
|
|
|
NM_001854.4(COL11A1):c.1440A>C (p.Pro480=)
|
|
|
NM_001854.4(COL11A1):c.1443G>A (p.Gly481=)
|
|
|
NM_001854.4(COL11A1):c.1444G>T (p.Ala482Ser)
|
|
|
NM_001854.4(COL11A1):c.1449T>A (p.Asp483Glu)
|
|
|
NM_001854.4(COL11A1):c.1453C>A (p.Leu485Ile)
|
rs536428525
|
|
NM_001854.4(COL11A1):c.1457C>G (p.Pro486Arg)
|
|
|
NM_001854.4(COL11A1):c.1467T>C (p.Pro489=)
|
|
|
NM_001854.4(COL11A1):c.1477T>A (p.Leu493Met)
|
|
|
NM_001854.4(COL11A1):c.1477T>C (p.Leu493=)
|
|
|
NM_001854.4(COL11A1):c.1479G>A (p.Leu493=)
|
rs2101904743
|
|
NM_001854.4(COL11A1):c.1479G>T (p.Leu493Phe)
|
|
|
NM_001854.4(COL11A1):c.1483T>A (p.Leu495Ile)
|
|
|
NM_001854.4(COL11A1):c.1486C>A (p.Pro496Thr)
|
|
|
NM_001854.4(COL11A1):c.1488+10T>G
|
rs2101904606
|
|
NM_001854.4(COL11A1):c.1488+20A>T
|
|
|
NM_001854.4(COL11A1):c.1488+5G>A
|
|
|
NM_001854.4(COL11A1):c.1488+6T>C
|
rs1571042150
|
|
NM_001854.4(COL11A1):c.1488+8C>A
|
|
|
NM_001854.4(COL11A1):c.1489-11T>C
|
|
|
NM_001854.4(COL11A1):c.1489-13T>G
|
rs1666409911
|
|
NM_001854.4(COL11A1):c.1489-15G>A
|
|
|
NM_001854.4(COL11A1):c.1489-8C>T
|
|
|
NM_001854.4(COL11A1):c.1491C>G (p.Phe497Leu)
|
rs755704308
|
|
NM_001854.4(COL11A1):c.1497T>C (p.Tyr499=)
|
|
|
NM_001854.4(COL11A1):c.1503T>C (p.Gly501=)
|
|
|
NM_001854.4(COL11A1):c.1511C>T (p.Ser504Phe)
|
|
|
NM_001854.4(COL11A1):c.1512C>T (p.Ser504=)
|
rs774727660
|
|
NM_001854.4(COL11A1):c.1514A>G (p.Lys505Arg)
|
|
|
NM_001854.4(COL11A1):c.1515A>G (p.Lys505=)
|
rs2101899581
|
|
NM_001854.4(COL11A1):c.151C>T (p.Pro51Ser)
|
|
|
NM_001854.4(COL11A1):c.1527C>G (p.Ile509Met)
|
|
|
NM_001854.4(COL11A1):c.1544A>G (p.Gln515Arg)
|
rs1666402093
|
|
NM_001854.4(COL11A1):c.1545G>T (p.Gln515His)
|
|
|
NM_001854.4(COL11A1):c.1548T>G (p.Ala516=)
|
|
|
NM_001854.4(COL11A1):c.1553C>T (p.Ala518Val)
|
|
|
NM_001854.4(COL11A1):c.1562A>G (p.Gln521Arg)
|
rs770438816
|
|
NM_001854.4(COL11A1):c.1567G>A (p.Ala523Thr)
|
|
|
NM_001854.4(COL11A1):c.1567G>T (p.Ala523Ser)
|
|
|
NM_001854.4(COL11A1):c.1568C>T (p.Ala523Val)
|
|
|
NM_001854.4(COL11A1):c.156G>A (p.Glu52=)
|
|
|
NM_001854.4(COL11A1):c.1570C>T (p.Arg524Trp)
|
|
|
NM_001854.4(COL11A1):c.1572+13A>T
|
rs1215755446
|
|
NM_001854.4(COL11A1):c.1572+1G>C
|
rs2101899230
|
|
NM_001854.4(COL11A1):c.1573-14A>G
|
rs2101890814
|
|
NM_001854.4(COL11A1):c.1573-15T>C
|
rs772291375
|
|
NM_001854.4(COL11A1):c.1573-16A>C
|
rs1666213365
|
|
NM_001854.4(COL11A1):c.1573-1G>T
|
rs2101890748
|
|
NM_001854.4(COL11A1):c.1573-3T>C
|
|
|
NM_001854.4(COL11A1):c.1573-5T>C
|
|
|
NM_001854.4(COL11A1):c.1573-9G>A
|
|
|
NM_001854.4(COL11A1):c.1576G>T (p.Ala526Ser)
|
|
|
NM_001854.4(COL11A1):c.1581G>C (p.Leu527=)
|
|
|
NM_001854.4(COL11A1):c.1594G>T (p.Gly532Cys)
|
|
|
NM_001854.4(COL11A1):c.1599A>C (p.Pro533=)
|
|
|
NM_001854.4(COL11A1):c.1599A>G (p.Pro533=)
|
|
|
NM_001854.4(COL11A1):c.1609A>C (p.Thr537Pro)
|
|
|
NM_001854.4(COL11A1):c.1609A>G (p.Thr537Ala)
|
|
|
NM_001854.4(COL11A1):c.1609A>T (p.Thr537Ser)
|
|
|
NM_001854.4(COL11A1):c.160A>G (p.Ile54Val)
|
|
|
NM_001854.4(COL11A1):c.1611T>C (p.Thr537=)
|
|
|
NM_001854.4(COL11A1):c.1612G>A (p.Gly538Arg)
|
rs2101890546
|
|
NM_001854.4(COL11A1):c.1622G>A (p.Gly541Asp)
|
|
|
NM_001854.4(COL11A1):c.1623T>C (p.Gly541=)
|
|
|
NM_001854.4(COL11A1):c.1628T>C (p.Val543Ala)
|
|
|
NM_001854.4(COL11A1):c.1629+12C>A
|
|
|
NM_001854.4(COL11A1):c.1629+13A>G
|
rs889072485
|
|
NM_001854.4(COL11A1):c.1629+14A>G
|
|
|
NM_001854.4(COL11A1):c.1629+1G>A
|
rs1553234339
|
|
NM_001854.4(COL11A1):c.1629+2T>C
|
rs2101890460
|
|
NM_001854.4(COL11A1):c.162A>T (p.Ile54=)
|
|
|
NM_001854.4(COL11A1):c.1630-14C>T
|
|
|
NM_001854.4(COL11A1):c.1630-16C>T
|
rs148114270
|
|
NM_001854.4(COL11A1):c.1630-1G>C
|
rs2101869722
|
|
NM_001854.4(COL11A1):c.1630-1G>T
|
|
|
NM_001854.4(COL11A1):c.1630-2del
|
rs1057517989
|
|
NM_001854.4(COL11A1):c.1630-3T>C
|
|
|
NM_001854.4(COL11A1):c.1630-9T>C
|
|
|
NM_001854.4(COL11A1):c.1633G>T (p.Gly545Trp)
|
|
|
NM_001854.4(COL11A1):c.1634G>C (p.Gly545Ala)
|
|
|
NM_001854.4(COL11A1):c.1635G>C (p.Gly545=)
|
|
|
NM_001854.4(COL11A1):c.1635G>T (p.Gly545=)
|
|
|
NM_001854.4(COL11A1):c.1636C>A (p.Pro546Thr)
|
|
|
NM_001854.4(COL11A1):c.1636C>G (p.Pro546Ala)
|
|
|
NM_001854.4(COL11A1):c.1636C>T (p.Pro546Ser)
|
|
|
NM_001854.4(COL11A1):c.1637C>A (p.Pro546His)
|
|
|
NM_001854.4(COL11A1):c.1646C>T (p.Ser549Phe)
|
|
|
NM_001854.4(COL11A1):c.1663A>C (p.Ser555Arg)
|
|
|
NM_001854.4(COL11A1):c.1664G>A (p.Ser555Asn)
|
|
|
NM_001854.4(COL11A1):c.1675G>A (p.Gly559Ser)
|
|
|
NM_001854.4(COL11A1):c.1678C>G (p.Pro560Ala)
|
|
|
NM_001854.4(COL11A1):c.1682A>C (p.Gln561Pro)
|
|
|
NM_001854.4(COL11A1):c.1683+13A>C
|
rs2101869216
|
|
NM_001854.4(COL11A1):c.1683+15T>G
|
|
|
NM_001854.4(COL11A1):c.1683+16T>G
|
|
|
NM_001854.4(COL11A1):c.1683+8dup
|
|
|
NM_001854.4(COL11A1):c.1683G>T (p.Gln561His)
|
rs2101869336
|
|
NM_001854.4(COL11A1):c.1684-15G>A
|
rs1665610425
|
|
NM_001854.4(COL11A1):c.1687C>T (p.Pro563Ser)
|
|
|
NM_001854.4(COL11A1):c.168AAC[1] (p.Thr58del)
|
rs1553253791
|
|
NM_001854.4(COL11A1):c.1694G>T (p.Gly565Val)
|
rs2101854719
|
|
NM_001854.4(COL11A1):c.1695C>T (p.Gly565=)
|
|
|
NM_001854.4(COL11A1):c.1696G>A (p.Val566Ile)
|
|
|
NM_001854.4(COL11A1):c.1698C>A (p.Val566=)
|
|
|
NM_001854.4(COL11A1):c.1698C>G (p.Val566=)
|
|
|
NM_001854.4(COL11A1):c.1701G>T (p.Gln567His)
|
|
|
NM_001854.4(COL11A1):c.1703G>A (p.Gly568Asp)
|
rs1665608144
|
|
NM_001854.4(COL11A1):c.1716A>G (p.Pro572=)
|
|
|
NM_001854.4(COL11A1):c.1718C>G (p.Thr573Arg)
|
|
|
NM_001854.4(COL11A1):c.1718C>T (p.Thr573Met)
|
rs202011565
|
|
NM_001854.4(COL11A1):c.1719G>A (p.Thr573=)
|
|
|
NM_001854.4(COL11A1):c.1724A>G (p.Lys575Arg)
|
|
|
NM_001854.4(COL11A1):c.1725A>G (p.Lys575=)
|
|
|
NM_001854.4(COL11A1):c.1727C>G (p.Pro576Arg)
|
|
|
NM_001854.4(COL11A1):c.1731A>T (p.Gly577=)
|
rs768140429
|
|
NM_001854.4(COL11A1):c.1736G>C (p.Arg579Thr)
|
rs1557935355
|
|
NM_001854.4(COL11A1):c.1737+10A>G
|
|
|
NM_001854.4(COL11A1):c.1737+15C>G
|
rs1665603331
|
|
NM_001854.4(COL11A1):c.1737+16A>G
|
|
|
NM_001854.4(COL11A1):c.1737+2T>G
|
|
|
NM_001854.4(COL11A1):c.1737+3A>T
|
|
|
NM_001854.4(COL11A1):c.1737+7C>A
|
|
|
NM_001854.4(COL11A1):c.1738-14G>C
|
|
|
NM_001854.4(COL11A1):c.1738G>C (p.Gly580Arg)
|
rs2101852919
|
|
NM_001854.4(COL11A1):c.173C>A (p.Thr58Lys)
|
rs770162224
|
|
NM_001854.4(COL11A1):c.1742G>T (p.Arg581Leu)
|
rs769449348
|
|
NM_001854.4(COL11A1):c.1744C>G (p.Pro582Ala)
|
|
|
NM_001854.4(COL11A1):c.1749T>C (p.Gly583=)
|
|
|
NM_001854.4(COL11A1):c.174G>A (p.Thr58=)
|
rs530441485
|
|
NM_001854.4(COL11A1):c.1752_1780del (p.Asp585fs)
|
|
|
NM_001854.4(COL11A1):c.1758A>T (p.Gly586=)
|
|
|
NM_001854.4(COL11A1):c.175G>A (p.Gly59Arg)
|
|
|
NM_001854.4(COL11A1):c.1760G>A (p.Gly587Glu)
|
rs2101852715
|
|
NM_001854.4(COL11A1):c.1773A>G (p.Pro591=)
|
rs1571009440
|
|
NM_001854.4(COL11A1):c.1786G>A (p.Ala596Thr)
|
|
|
NM_001854.4(COL11A1):c.1786G>T (p.Ala596Ser)
|
rs758567291
|
|
NM_001854.4(COL11A1):c.1791+13C>T
|
|
|
NM_001854.4(COL11A1):c.1791+18T>C
|
|
|
NM_001854.4(COL11A1):c.1791+1G>T
|
rs2101852537
|
|
NM_001854.4(COL11A1):c.1791+1del
|
|
|
NM_001854.4(COL11A1):c.1791+3C>A
|
|
|
NM_001854.4(COL11A1):c.1791+4A>G
|
|
|
NM_001854.4(COL11A1):c.1792-10_1792-8del
|
rs2101851346
|
|
NM_001854.4(COL11A1):c.1792-13G>T
|
|
|
NM_001854.4(COL11A1):c.1792-15A>G
|
|
|
NM_001854.4(COL11A1):c.1792-19G>C
|
rs2101851511
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[12]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[13]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[14]
|
|
|
NM_001854.4(COL11A1):c.1792-39ATG[4]
|
|
|
NM_001854.4(COL11A1):c.1792-39ATG[5]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[6]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[7]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[8]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[9]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1794A>T (p.Gly598=)
|
|
|
NM_001854.4(COL11A1):c.179T>G (p.Phe60Cys)
|
|
|
NM_001854.4(COL11A1):c.1808A>G (p.Asp603Gly)
|
|
|
NM_001854.4(COL11A1):c.1822C>T (p.Leu608=)
|
rs1571008380
|
|
NM_001854.4(COL11A1):c.1831G>A (p.Asp611Asn)
|
|
|
NM_001854.4(COL11A1):c.1845+11T>A
|
|
|
NM_001854.4(COL11A1):c.1845+14A>G
|
rs369345126
|
|
NM_001854.4(COL11A1):c.1845+19T>C
|
|
|
NM_001854.4(COL11A1):c.1845+19T>G
|
|
|
NM_001854.4(COL11A1):c.1846-11T>C
|
|
|
NM_001854.4(COL11A1):c.1846-11T>G
|
|
|
NM_001854.4(COL11A1):c.1846-15G>T
|
rs2101844092
|
|
NM_001854.4(COL11A1):c.1846-20T>C
|
|
|
NM_001854.4(COL11A1):c.1846-5A>G
|
|
|
NM_001854.4(COL11A1):c.1846G>A (p.Gly616Ser)
|
|
|
NM_001854.4(COL11A1):c.1852C>T (p.Arg618Ter)
|
rs1469521034
|
|
NM_001854.4(COL11A1):c.1856G>A (p.Gly619Asp)
|
|
|
NM_001854.4(COL11A1):c.1856del (p.Gly619fs)
|
|
|
NM_001854.4(COL11A1):c.185C>G (p.Thr62Arg)
|
|
|
NM_001854.4(COL11A1):c.185C>T (p.Thr62Ile)
|
|
|
NM_001854.4(COL11A1):c.1871C>T (p.Pro624Leu)
|
|
|
NM_001854.4(COL11A1):c.1879C>G (p.Pro627Ala)
|
|
|
NM_001854.4(COL11A1):c.1881T>C (p.Pro627=)
|
|
|
NM_001854.4(COL11A1):c.1883dup (p.Gly628_Asp629insTer)
|
|
|
NM_001854.4(COL11A1):c.1887T>C (p.Asp629=)
|
|
|
NM_001854.4(COL11A1):c.1889A>T (p.Asp630Val)
|
|
|
NM_001854.4(COL11A1):c.1894A>T (p.Met632Leu)
|
|
|
NM_001854.4(COL11A1):c.1899+12C>T
|
|
|
NM_001854.4(COL11A1):c.1899+15C>A
|
|
|
NM_001854.4(COL11A1):c.1899+15C>T
|
|
|
NM_001854.4(COL11A1):c.1899+4T>C
|
|
|
NM_001854.4(COL11A1):c.1899+4T>G
|
|
|
NM_001854.4(COL11A1):c.1899G>A (p.Arg633=)
|
|
|
NM_001854.4(COL11A1):c.1900-11G>A
|
rs747685749
|
|
NM_001854.4(COL11A1):c.1900-12T>C
|
|
|
NM_001854.4(COL11A1):c.1900-16A>G
|
|
|
NM_001854.4(COL11A1):c.1900-17C>A
|
|
|
NM_001854.4(COL11A1):c.1900-2A>G
|
|
|
NM_001854.4(COL11A1):c.1900-3C>T
|
|
|
NM_001854.4(COL11A1):c.1900-3_1900-2del
|
|
|
NM_001854.4(COL11A1):c.1900-9C>T
|
|
|
NM_001854.4(COL11A1):c.1903G>A (p.Glu635Lys)
|
|
|
NM_001854.4(COL11A1):c.1908T>C (p.Asp636=)
|
|
|
NM_001854.4(COL11A1):c.1922C>G (p.Pro641Arg)
|
|
|
NM_001854.4(COL11A1):c.1925G>C (p.Arg642Thr)
|
rs1665409366
|
|
NM_001854.4(COL11A1):c.1926A>T (p.Arg642Ser)
|
|
|
NM_001854.4(COL11A1):c.1928G>T (p.Gly643Val)
|
rs1427555518
|
|
NM_001854.4(COL11A1):c.1942G>A (p.Ala648Thr)
|
|
|
NM_001854.4(COL11A1):c.1944+14T>A
|
|
|
NM_001854.4(COL11A1):c.1944+20_1944+25del
|
rs1247011728
|
|
NM_001854.4(COL11A1):c.1945-11T>C
|
rs1665299209
|
|
NM_001854.4(COL11A1):c.1945-14T>C
|
|
|
NM_001854.4(COL11A1):c.1945-16T>A
|
|
|
NM_001854.4(COL11A1):c.1945-18T>C
|
|
|
NM_001854.4(COL11A1):c.1945-19C>T
|
rs1571000550
|
|
NM_001854.4(COL11A1):c.1945-2A>G
|
|
|
NM_001854.4(COL11A1):c.1945-3T>A
|
|
|
NM_001854.4(COL11A1):c.1945-4C>G
|
rs369850252
|
|
NM_001854.4(COL11A1):c.1945-7C>A
|
rs201424786
|
|
NM_001854.4(COL11A1):c.1945-7C>T
|
rs201424786
|
|
NM_001854.4(COL11A1):c.1946G>A (p.Gly649Asp)
|
|
|
NM_001854.4(COL11A1):c.1947C>T (p.Gly649=)
|
rs1390854803
|
|
NM_001854.4(COL11A1):c.1948C>T (p.Pro650Ser)
|
|
|
NM_001854.4(COL11A1):c.1949C>A (p.Pro650Gln)
|
|
|
NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)
|
|
|
NM_001854.4(COL11A1):c.1952G>A (p.Arg651Gln)
|
|
|
NM_001854.4(COL11A1):c.1952G>C (p.Arg651Pro)
|
|
|
NM_001854.4(COL11A1):c.1955G>A (p.Gly652Asp)
|
|
|
NM_001854.4(COL11A1):c.195G>A (p.Lys65=)
|
|
|
NM_001854.4(COL11A1):c.195G>T (p.Lys65Asn)
|
|
|
NM_001854.4(COL11A1):c.1964G>C (p.Gly655Ala)
|
|
|
NM_001854.4(COL11A1):c.1968A>G (p.Pro656=)
|
rs1571000308
|
|
NM_001854.4(COL11A1):c.1973G>A (p.Gly658Glu)
|
rs1201613198
|
|
NM_001854.4(COL11A1):c.1988C>T (p.Pro663Leu)
|
rs1377533345
|
|
NM_001854.4(COL11A1):c.198T>C (p.Asn66=)
|
rs777941684
|
|
NM_001854.4(COL11A1):c.1990G>A (p.Gly664Arg)
|
|
|
NM_001854.4(COL11A1):c.1991G>C (p.Gly664Ala)
|
|
|
NM_001854.4(COL11A1):c.1998+4T>G
|
|
|
NM_001854.4(COL11A1):c.1999-19T>C
|
|
|
NM_001854.4(COL11A1):c.1999-9T>C
|
|
|
NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr)
|
rs767790003
|
|
NM_001854.4(COL11A1):c.2004G>A (p.Met668Ile)
|
|
|
NM_001854.4(COL11A1):c.2011G>A (p.Val671Ile)
|
|
|
NM_001854.4(COL11A1):c.2011G>T (p.Val671Leu)
|
rs201602988
|
|
NM_001854.4(COL11A1):c.2019C>T (p.Gly673=)
|
rs770998941
|
|
NM_001854.4(COL11A1):c.2022C>T (p.Pro674=)
|
rs747879227
|
|
NM_001854.4(COL11A1):c.2023C>T (p.Pro675Ser)
|
|
|
NM_001854.4(COL11A1):c.2024del (p.Pro675fs)
|
|
|
NM_001854.4(COL11A1):c.2038A>C (p.Asn680His)
|
|
|
NM_001854.4(COL11A1):c.203A>G (p.Lys68Arg)
|
|
|
NM_001854.4(COL11A1):c.2040C>A (p.Asn680Lys)
|
|
|
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=)
|
rs530187653
|
|
NM_001854.4(COL11A1):c.2043+12A>T
|
|
|
NM_001854.4(COL11A1):c.2043+4T>A
|
rs764236870
|
|
NM_001854.4(COL11A1):c.2043+4T>C
|
|
|
NM_001854.4(COL11A1):c.2043+5G>A
|
|
|
NM_001854.4(COL11A1):c.2043+9C>T
|
|
|
NM_001854.4(COL11A1):c.2044-11T>G
|
|
|
NM_001854.4(COL11A1):c.2044-18T>C
|
|
|
NM_001854.4(COL11A1):c.2044-19T>G
|
rs778017851
|
|
NM_001854.4(COL11A1):c.2044-5G>A
|
|
|
NM_001854.4(COL11A1):c.2044-5G>C
|
rs2101831010
|
|
NM_001854.4(COL11A1):c.2044-9C>T
|
|
|
NM_001854.4(COL11A1):c.204A>G (p.Lys68=)
|
|
|
NM_001854.4(COL11A1):c.2055G>C (p.Gly685=)
|
|
|
NM_001854.4(COL11A1):c.2060C>T (p.Pro687Leu)
|
|
|
NM_001854.4(COL11A1):c.2062G>C (p.Gly688Arg)
|
|
|
NM_001854.4(COL11A1):c.2063G>C (p.Gly688Ala)
|
|
|
NM_001854.4(COL11A1):c.206G>A (p.Gly69Asp)
|
|
|
NM_001854.4(COL11A1):c.206G>T (p.Gly69Val)
|
|
|
NM_001854.4(COL11A1):c.2070A>G (p.Pro690=)
|
|
|
NM_001854.4(COL11A1):c.2074C>A (p.Gln692Lys)
|
|
|
NM_001854.4(COL11A1):c.2077C>G (p.Gln693Glu)
|
|
|
NM_001854.4(COL11A1):c.207C>G (p.Gly69=)
|
|
|
NM_001854.4(COL11A1):c.207C>T (p.Gly69=)
|
|
|
NM_001854.4(COL11A1):c.2087C>T (p.Pro696Leu)
|
|
|
NM_001854.4(COL11A1):c.2097+11G>A
|
|
|
NM_001854.4(COL11A1):c.2097+7C>A
|
|
|
NM_001854.4(COL11A1):c.2097G>C (p.Gln699His)
|
rs775800593
|
|
NM_001854.4(COL11A1):c.2098-10T>C
|
|
|
NM_001854.4(COL11A1):c.2098-11T>C
|
|
|
NM_001854.4(COL11A1):c.2098-12C>A
|
|
|
NM_001854.4(COL11A1):c.2098-14T>G
|
|
|
NM_001854.4(COL11A1):c.2098-18T>C
|
rs2101827894
|
|
NM_001854.4(COL11A1):c.2098-19A>C
|
|
|
NM_001854.4(COL11A1):c.2098-2A>C
|
|
|
NM_001854.4(COL11A1):c.2098-4dup
|
rs764570124
|
|
NM_001854.4(COL11A1):c.2098-6A>C
|
rs1557928458
|
|
NM_001854.4(COL11A1):c.209C>T (p.Ser70Leu)
|
rs990402514
|
|
NM_001854.4(COL11A1):c.2104C>T (p.Pro702Ser)
|
|
|
NM_001854.4(COL11A1):c.2105C>A (p.Pro702His)
|
|
|
NM_001854.4(COL11A1):c.2110C>T (p.Pro704Ser)
|
|
|
NM_001854.4(COL11A1):c.2122A>G (p.Ile708Val)
|
|
|
NM_001854.4(COL11A1):c.2131C>T (p.Pro711Ser)
|
rs1665145505
|
|
NM_001854.4(COL11A1):c.2132C>T (p.Pro711Leu)
|
rs2101827358
|
|
NM_001854.4(COL11A1):c.2142+10T>C
|
|
|
NM_001854.4(COL11A1):c.2142+16_2142+18del
|
rs762103607
|
|
NM_001854.4(COL11A1):c.2142+2T>C
|
|
|
NM_001854.4(COL11A1):c.2143-10del
|
rs747240373
|
|
NM_001854.4(COL11A1):c.2143-10dup
|
rs747240373
|
|
NM_001854.4(COL11A1):c.2143-20A>T
|
|
|
NM_001854.4(COL11A1):c.2143-20del
|
rs1389430938
|
|
NM_001854.4(COL11A1):c.2143-3A>G
|
rs1664822204
|
|
NM_001854.4(COL11A1):c.2143-5A>C
|
rs749510866
|
|
NM_001854.4(COL11A1):c.2143-6T>C
|
rs768898296
|
|
NM_001854.4(COL11A1):c.2149C>T (p.Gln717Ter)
|
|
|
NM_001854.4(COL11A1):c.2154A>G (p.Gly718=)
|
rs1490591478
|
|
NM_001854.4(COL11A1):c.2156_2157insT (p.Lys719fs)
|
rs1274185001
|
|
NM_001854.4(COL11A1):c.2158C>G (p.Pro720Ala)
|
rs2101807917
|
|
NM_001854.4(COL11A1):c.215C>T (p.Thr72Ile)
|
|
|
NM_001854.4(COL11A1):c.2163A>T (p.Gly721=)
|
|
|
NM_001854.4(COL11A1):c.2176C>G (p.Pro726Ala)
|
|
|
NM_001854.4(COL11A1):c.2177C>T (p.Pro726Leu)
|
|
|
NM_001854.4(COL11A1):c.218C>T (p.Ala73Val)
|
rs1672522063
|
|
NM_001854.4(COL11A1):c.2191C>A (p.Pro731Thr)
|
rs753495125
|
|
NM_001854.4(COL11A1):c.2193_2194dup (p.Pro732fs)
|
rs745956910
|
|
NM_001854.4(COL11A1):c.2194C>T (p.Pro732Ser)
|
rs375443900
|
|
NM_001854.4(COL11A1):c.2196+10A>G
|
|
|
NM_001854.4(COL11A1):c.2196+11G>A
|
rs1664814779
|
|
NM_001854.4(COL11A1):c.2196+17T>C
|
|
|
NM_001854.4(COL11A1):c.2196+19G>C
|
|
|
NM_001854.4(COL11A1):c.2196+5G>A
|
rs2101807527
|
|
NM_001854.4(COL11A1):c.2196+8A>G
|
|
|
NM_001854.4(COL11A1):c.2201A>G (p.His734Arg)
|
|
|
NM_001854.4(COL11A1):c.2202T>A (p.His734Gln)
|
|
|
NM_001854.4(COL11A1):c.2203C>G (p.Pro735Ala)
|
|
|
NM_001854.4(COL11A1):c.2206G>A (p.Gly736Arg)
|
rs1664704778
|
|
NM_001854.4(COL11A1):c.2206G>T (p.Gly736Trp)
|
|
|
NM_001854.4(COL11A1):c.2207G>T (p.Gly736Val)
|
rs2101800983
|
|
NM_001854.4(COL11A1):c.2208G>T (p.Gly736=)
|
|
|
NM_001854.4(COL11A1):c.2215G>A (p.Gly739Ser)
|
rs764676570
|
|
NM_001854.4(COL11A1):c.2216G>A (p.Gly739Asp)
|
rs2101800928
|
|
NM_001854.4(COL11A1):c.2219A>G (p.Gln740Arg)
|
rs2101800898
|
|
NM_001854.4(COL11A1):c.2222C>A (p.Ser741Tyr)
|
rs1205519938
|
|
NM_001854.4(COL11A1):c.2225G>T (p.Gly742Val)
|
|
|
NM_001854.4(COL11A1):c.2232G>A (p.Lys744=)
|
rs765354732
|
|
NM_001854.4(COL11A1):c.2232G>C (p.Lys744Asn)
|
|
|
NM_001854.4(COL11A1):c.2241+12A>C
|
rs2101800574
|
|
NM_001854.4(COL11A1):c.2241+18C>T
|
|
|
NM_001854.4(COL11A1):c.2241+5G>C
|
rs2101800665
|
|
NM_001854.4(COL11A1):c.2241+5G>T
|
rs2101800665
|
|
NM_001854.4(COL11A1):c.2241+7del
|
rs757265952
|
|
NM_001854.4(COL11A1):c.2241G>T (p.Leu747=)
|
rs2101800693
|
|
NM_001854.4(COL11A1):c.2244T>C (p.Gly748=)
|
rs1211882498
|
|
NM_001854.4(COL11A1):c.2244T>G (p.Gly748=)
|
|
|
NM_001854.4(COL11A1):c.2245C>T (p.Pro749Ser)
|
rs1664593626
|
|
NM_001854.4(COL11A1):c.2247C>G (p.Pro749=)
|
|
|
NM_001854.4(COL11A1):c.2247C>T (p.Pro749=)
|
|
|
NM_001854.4(COL11A1):c.2250T>C (p.Pro750=)
|
|
|
NM_001854.4(COL11A1):c.2251G>T (p.Gly751Cys)
|
|
|
NM_001854.4(COL11A1):c.2254C>T (p.Pro752Ser)
|
|
|
NM_001854.4(COL11A1):c.2260G>A (p.Gly754Ser)
|
|
|
NM_001854.4(COL11A1):c.2265T>C (p.Pro755=)
|
|
|
NM_001854.4(COL11A1):c.2267T>C (p.Ile756Thr)
|
|
|
NM_001854.4(COL11A1):c.2277G>A (p.Pro759=)
|
|
|
NM_001854.4(COL11A1):c.2277G>T (p.Pro759=)
|
|
|
NM_001854.4(COL11A1):c.2282C>T (p.Pro761Leu)
|
|
|
NM_001854.4(COL11A1):c.2284C>G (p.Arg762Gly)
|
|
|
NM_001854.4(COL11A1):c.2284C>T (p.Arg762Trp)
|
rs759469788
|
|
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)
|
rs758825857
|
|
NM_001854.4(COL11A1):c.2289A>G (p.Gly763=)
|
|
|
NM_001854.4(COL11A1):c.2292_2295dup (p.Gly766fs)
|
|
|
NM_001854.4(COL11A1):c.2295+15T>C
|
rs2101793813
|
|
NM_001854.4(COL11A1):c.2295+5C>A
|
|
|
NM_001854.4(COL11A1):c.2296-19C>T
|
rs776330050
|
|
NM_001854.4(COL11A1):c.2296-3C>T
|
|
|
NM_001854.4(COL11A1):c.2300C>A (p.Ala767Glu)
|
|
|
NM_001854.4(COL11A1):c.2300C>G (p.Ala767Gly)
|
|
|
NM_001854.4(COL11A1):c.2302G>T (p.Asp768Tyr)
|
|
|
NM_001854.4(COL11A1):c.2305G>A (p.Gly769Ser)
|
|
|
NM_001854.4(COL11A1):c.2311del (p.Arg771fs)
|
|
|
NM_001854.4(COL11A1):c.2324G>A (p.Gly775Glu)
|
|
|
NM_001854.4(COL11A1):c.2335G>C (p.Glu779Gln)
|
|
|
NM_001854.4(COL11A1):c.2335G>T (p.Glu779Ter)
|
|
|
NM_001854.4(COL11A1):c.2339A>C (p.Lys780Thr)
|
|
|
NM_001854.4(COL11A1):c.2340+11A>C
|
|
|
NM_001854.4(COL11A1):c.2340+19G>T
|
|
|
NM_001854.4(COL11A1):c.2340+9_2340+13del
|
rs374301870
|
|
NM_001854.4(COL11A1):c.2340G>A (p.Lys780=)
|
|
|
NM_001854.4(COL11A1):c.2341-11T>C
|
|
|
NM_001854.4(COL11A1):c.2341-11_2341-2del
|
|
|
NM_001854.4(COL11A1):c.2341-13T>A
|
|
|
NM_001854.4(COL11A1):c.2341-16T>A
|
|
|
NM_001854.4(COL11A1):c.2341-17C>A
|
|
|
NM_001854.4(COL11A1):c.2341-20T>A
|
|
|
NM_001854.4(COL11A1):c.2341-3T>C
|
|
|
NM_001854.4(COL11A1):c.2341-7G>A
|
rs2101750596
|
|
NM_001854.4(COL11A1):c.2349T>C (p.Asp783=)
|
|
|
NM_001854.4(COL11A1):c.2355T>C (p.Phe785=)
|
|
|
NM_001854.4(COL11A1):c.2356C>G (p.Pro786Ala)
|
|
|
NM_001854.4(COL11A1):c.2360G>T (p.Gly787Val)
|
|
|
NM_001854.4(COL11A1):c.2378G>A (p.Gly793Asp)
|
rs1663916513
|
|
NM_001854.4(COL11A1):c.2386G>C (p.Gly796Arg)
|
rs2101750154
|
|
NM_001854.4(COL11A1):c.2394+11A>C
|
|
|
NM_001854.4(COL11A1):c.2394+12G>T
|
|
|
NM_001854.4(COL11A1):c.2394+16A>G
|
|
|
NM_001854.4(COL11A1):c.2394+8T>A
|
|
|
NM_001854.4(COL11A1):c.2394+8T>C
|
rs1322783114
|
|
NM_001854.4(COL11A1):c.2394A>T (p.Arg798Ser)
|
|
|
NM_001854.4(COL11A1):c.2395-15T>C
|
|
|
NM_001854.4(COL11A1):c.2395-2A>G
|
|
|
NM_001854.4(COL11A1):c.2395-3C>A
|
|
|
NM_001854.4(COL11A1):c.2395G>A (p.Gly799Arg)
|
rs745911557
|
|
NM_001854.4(COL11A1):c.2401G>A (p.Val801Ile)
|
rs2101738781
|
|
NM_001854.4(COL11A1):c.2408A>C (p.Gln803Pro)
|
|
|
NM_001854.4(COL11A1):c.240A>G (p.Ala80=)
|
|
|
NM_001854.4(COL11A1):c.2414G>A (p.Gly805Asp)
|
|
|
NM_001854.4(COL11A1):c.2414G>T (p.Gly805Val)
|
|
|
NM_001854.4(COL11A1):c.2416C>G (p.Pro806Ala)
|
rs2101738655
|
|
NM_001854.4(COL11A1):c.2421A>G (p.Arg807=)
|
rs367824632
|
|
NM_001854.4(COL11A1):c.2424G>C (p.Gly808=)
|
|
|
NM_001854.4(COL11A1):c.2427A>G (p.Glu809=)
|
|
|
NM_001854.4(COL11A1):c.242A>G (p.Gln81Arg)
|
|
|
NM_001854.4(COL11A1):c.2431G>C (p.Gly811Arg)
|
|
|
NM_001854.4(COL11A1):c.2434C>G (p.Pro812Ala)
|
rs2101738447
|
|
NM_001854.4(COL11A1):c.2452C>T (p.Arg818Ter)
|
|
|
NM_001854.4(COL11A1):c.2453_2454delinsAT (p.Arg818His)
|
|
|
NM_001854.4(COL11A1):c.2491G>A (p.Ala831Thr)
|
|
|
NM_001854.4(COL11A1):c.2491G>T (p.Ala831Ser)
|
rs2101738084
|
|
NM_001854.4(COL11A1):c.24G>T (p.Trp8Cys)
|
|
|
NM_001854.4(COL11A1):c.2501A>T (p.Lys834Met)
|
|
|
NM_001854.4(COL11A1):c.2502+11G>T
|
|
|
NM_001854.4(COL11A1):c.2502+12A>G
|
|
|
NM_001854.4(COL11A1):c.2502+16del
|
rs576277384
|
|
NM_001854.4(COL11A1):c.2502+1G>C
|
|
|
NM_001854.4(COL11A1):c.2503-13A>G
|
|
|
NM_001854.4(COL11A1):c.2503-16T>C
|
|
|
NM_001854.4(COL11A1):c.2503-3T>C
|
|
|
NM_001854.4(COL11A1):c.2503-4G>A
|
rs901317166
|
|
NM_001854.4(COL11A1):c.2503-5T>C
|
rs1557903443
|
|
NM_001854.4(COL11A1):c.2509C>A (p.Leu837Ile)
|
|
|
NM_001854.4(COL11A1):c.2510T>C (p.Leu837Pro)
|
rs2101714784
|
|
NM_001854.4(COL11A1):c.2536C>A (p.Pro846Thr)
|
|
|
NM_001854.4(COL11A1):c.2549G>C (p.Gly850Ala)
|
rs756693376
|
|
NM_001854.4(COL11A1):c.254del (p.Pro85fs)
|
|
|
NM_001854.4(COL11A1):c.2551C>T (p.Pro851Ser)
|
|
|
NM_001854.4(COL11A1):c.2552C>T (p.Pro851Leu)
|
|
|
NM_001854.4(COL11A1):c.2553A>C (p.Pro851=)
|
|
|
NM_001854.4(COL11A1):c.2556+18T>A
|
|
|
NM_001854.4(COL11A1):c.2556+20A>G
|
|
|
NM_001854.4(COL11A1):c.2556+3A>T
|
|
|
NM_001854.4(COL11A1):c.2557-10A>G
|
|
|
NM_001854.4(COL11A1):c.2557-20A>G
|
|
|
NM_001854.4(COL11A1):c.2557-20A>T
|
|
|
NM_001854.4(COL11A1):c.2557-4G>T
|
|
|
NM_001854.4(COL11A1):c.2557-5T>C
|
|
|
NM_001854.4(COL11A1):c.2557-8T>C
|
rs572637910
|
|
NM_001854.4(COL11A1):c.2561C>T (p.Ser854Phe)
|
|
|
NM_001854.4(COL11A1):c.2565T>G (p.Thr855=)
|
|
|
NM_001854.4(COL11A1):c.2573C>T (p.Pro858Leu)
|
|
|
NM_001854.4(COL11A1):c.2577G>A (p.Gly859=)
|
rs1312297641
|
|
NM_001854.4(COL11A1):c.257C>A (p.Thr86Lys)
|
|
|
NM_001854.4(COL11A1):c.2580del (p.Pro861fs)
|
|
|
NM_001854.4(COL11A1):c.2584G>A (p.Gly862Ser)
|
rs1662819143
|
|
NM_001854.4(COL11A1):c.258A>G (p.Thr86=)
|
|
|
NM_001854.4(COL11A1):c.2590A>G (p.Asn864Asp)
|
|
|
NM_001854.4(COL11A1):c.2591A>G (p.Asn864Ser)
|
rs1340194622
|
|
NM_001854.4(COL11A1):c.2597A>G (p.Glu866Gly)
|
|
|
NM_001854.4(COL11A1):c.2603G>A (p.Gly868Asp)
|
rs2101683875
|
|
NM_001854.4(COL11A1):c.2609G>A (p.Arg870Gln)
|
|
|
NM_001854.4(COL11A1):c.2610+10A>G
|
|
|
NM_001854.4(COL11A1):c.2610+5G>A
|
|
|
NM_001854.4(COL11A1):c.2611-11G>A
|
|
|
NM_001854.4(COL11A1):c.2611-12T>A
|
|
|
NM_001854.4(COL11A1):c.2611-19_2611-18delinsCC
|
|
|
NM_001854.4(COL11A1):c.2611-4C>G
|
|
|
NM_001854.4(COL11A1):c.2611-6T>C
|
|
|
NM_001854.4(COL11A1):c.2611-9C>T
|
rs1485078930
|
|
NM_001854.4(COL11A1):c.2614G>C (p.Val872Leu)
|
|
|
NM_001854.4(COL11A1):c.2622C>A (p.Gly874=)
|
|
|
NM_001854.4(COL11A1):c.2622C>T (p.Gly874=)
|
|
|
NM_001854.4(COL11A1):c.262C>G (p.Gln88Glu)
|
|
|
NM_001854.4(COL11A1):c.2630_2632delinsCTA (p.Gly877_Pro878delinsAlaThr)
|
|
|
NM_001854.4(COL11A1):c.2633C>G (p.Pro878Arg)
|
rs370974962
|
|
NM_001854.4(COL11A1):c.2636G>A (p.Arg879Gln)
|
|
|
NM_001854.4(COL11A1):c.263A>T (p.Gln88Leu)
|
|
|
NM_001854.4(COL11A1):c.2654C>T (p.Thr885Met)
|
rs550201657
|
|
NM_001854.4(COL11A1):c.2655+5G>T
|
|
|
NM_001854.4(COL11A1):c.2655+6T>A
|
|
|
NM_001854.4(COL11A1):c.2655+9C>T
|
|
|
NM_001854.4(COL11A1):c.2655G>A (p.Thr885=)
|
|
|
NM_001854.4(COL11A1):c.2656-12T>C
|
rs769091234
|
|
NM_001854.4(COL11A1):c.2656-15T>C
|
|
|
NM_001854.4(COL11A1):c.2656-3C>G
|
|
|
NM_001854.4(COL11A1):c.2656-4G>T
|
rs1553224423
|
|
NM_001854.4(COL11A1):c.2663G>A (p.Arg888Gln)
|
|
|
NM_001854.4(COL11A1):c.2674G>C (p.Gly892Arg)
|
|
|
NM_001854.4(COL11A1):c.2676T>G (p.Gly892=)
|
|
|
NM_001854.4(COL11A1):c.2689A>G (p.Thr897Ala)
|
rs2101680384
|
|
NM_001854.4(COL11A1):c.268T>C (p.Phe90Leu)
|
|
|
NM_001854.4(COL11A1):c.2700T>C (p.Pro900=)
|
|
|
NM_001854.4(COL11A1):c.2701G>C (p.Gly901Arg)
|
|
|
NM_001854.4(COL11A1):c.2707A>T (p.Lys903Ter)
|
|
|
NM_001854.4(COL11A1):c.2709+13C>A
|
|
|
NM_001854.4(COL11A1):c.2709+15T>C
|
|
|
NM_001854.4(COL11A1):c.2709+16T>A
|
|
|
NM_001854.4(COL11A1):c.2709+20del
|
|
|
NM_001854.4(COL11A1):c.2709+7C>A
|
|
|
NM_001854.4(COL11A1):c.2709+7C>G
|
|
|
NM_001854.4(COL11A1):c.2709+9T>G
|
|
|
NM_001854.4(COL11A1):c.2710-16C>T
|
|
|
NM_001854.4(COL11A1):c.2710-17del
|
|
|
NM_001854.4(COL11A1):c.2710-3C>T
|
|
|
NM_001854.4(COL11A1):c.2710-8G>T
|
|
|
NM_001854.4(COL11A1):c.2713A>G (p.Thr905Ala)
|
|
|
NM_001854.4(COL11A1):c.2720G>A (p.Gly907Asp)
|
rs2101679173
|
|
NM_001854.4(COL11A1):c.2724C>G (p.Gly908=)
|
|
|
NM_001854.4(COL11A1):c.2724C>T (p.Gly908=)
|
rs201972285
|
|
NM_001854.4(COL11A1):c.2729G>A (p.Gly910Asp)
|
rs2101679057
|
|
NM_001854.4(COL11A1):c.2730C>T (p.Gly910=)
|
|
|
NM_001854.4(COL11A1):c.2736T>C (p.Pro912=)
|
|
|
NM_001854.4(COL11A1):c.2739C>A (p.Gly913=)
|
|
|
NM_001854.4(COL11A1):c.2739C>T (p.Gly913=)
|
rs1553224335
|
|
NM_001854.4(COL11A1):c.274+12T>C
|
|
|
NM_001854.4(COL11A1):c.274+14A>G
|
|
|
NM_001854.4(COL11A1):c.274+19del
|
rs753977832
|
|
NM_001854.4(COL11A1):c.274+2T>A
|
|
|
NM_001854.4(COL11A1):c.274+3A>G
|
|
|
NM_001854.4(COL11A1):c.274+5A>G
|
rs1571238473
|
|
NM_001854.4(COL11A1):c.274+9A>T
|
|
|
NM_001854.4(COL11A1):c.2741C>A (p.Pro914His)
|
rs2101678875
|
|
NM_001854.4(COL11A1):c.2741C>T (p.Pro914Leu)
|
rs2101678875
|
|
NM_001854.4(COL11A1):c.275-14C>A
|
|
|
NM_001854.4(COL11A1):c.275-17del
|
rs3841819
|
|
NM_001854.4(COL11A1):c.275-3C>T
|
|
|
NM_001854.4(COL11A1):c.275-5C>G
|
|
|
NM_001854.4(COL11A1):c.2754+10A>G
|
rs2101678680
|
|
NM_001854.4(COL11A1):c.2754+10_2754+15dup
|
rs1332179238
|
|
NM_001854.4(COL11A1):c.2754+3A>G
|
|
|
NM_001854.4(COL11A1):c.2754+5G>A
|
rs1057518666
|
|
NM_001854.4(COL11A1):c.2754+9G>C
|
|
|
NM_001854.4(COL11A1):c.2755-13T>A
|
|
|
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.2755-9dup
|
|
|
NM_001854.4(COL11A1):c.2758C>A (p.Pro920Thr)
|
|
|
NM_001854.4(COL11A1):c.2759C>T (p.Pro920Leu)
|
|
|
NM_001854.4(COL11A1):c.2767C>T (p.Pro923Ser)
|
|
|
NM_001854.4(COL11A1):c.2771A>G (p.Gln924Arg)
|
|
|
NM_001854.4(COL11A1):c.2772G>A (p.Gln924=)
|
rs1662316185
|
|
NM_001854.4(COL11A1):c.2773G>A (p.Gly925Ser)
|
|
|
NM_001854.4(COL11A1):c.2777C>T (p.Pro926Leu)
|
|
|
NM_001854.4(COL11A1):c.2794C>A (p.Pro932Thr)
|
rs2101653110
|
|
NM_001854.4(COL11A1):c.2808+12_2808+13del
|
|
|
NM_001854.4(COL11A1):c.2808+13G>A
|
|
|
NM_001854.4(COL11A1):c.2808+18T>C
|
|
|
NM_001854.4(COL11A1):c.2808+1G>A
|
rs1553223152
|
|
NM_001854.4(COL11A1):c.2808+1G>C
|
|
|
NM_001854.4(COL11A1):c.2808+3_2808+6del
|
rs2101652956
|
|
NM_001854.4(COL11A1):c.2808+5G>C
|
|
|
NM_001854.4(COL11A1):c.2809-1G>A
|
|
|
NM_001854.4(COL11A1):c.2809-2A>C
|
|
|
NM_001854.4(COL11A1):c.2809-2A>G
|
rs1661835277
|
|
NM_001854.4(COL11A1):c.2809-3C>G
|
|
|
NM_001854.4(COL11A1):c.2809-6T>C
|
rs2101626245
|
|
NM_001854.4(COL11A1):c.2809-7dup
|
|
|
NM_001854.4(COL11A1):c.2809-9T>C
|
|
|
NM_001854.4(COL11A1):c.280A>G (p.Thr94Ala)
|
|
|
NM_001854.4(COL11A1):c.2810G>A (p.Gly937Glu)
|
|
|
NM_001854.4(COL11A1):c.2812C>T (p.Pro938Ser)
|
|
|
NM_001854.4(COL11A1):c.2814A>G (p.Pro938=)
|
rs756359136
|
|
NM_001854.4(COL11A1):c.281C>G (p.Thr94Ser)
|
|
|
NM_001854.4(COL11A1):c.2823G>A (p.Lys941=)
|
|
|
NM_001854.4(COL11A1):c.2829G>A (p.Gly943=)
|
|
|
NM_001854.4(COL11A1):c.2831dup (p.Pro945fs)
|
|
|
NM_001854.4(COL11A1):c.2832G>T (p.Leu944=)
|
|
|
NM_001854.4(COL11A1):c.2834C>T (p.Pro945Leu)
|
|
|
NM_001854.4(COL11A1):c.2837G>A (p.Gly946Glu)
|
|
|
NM_001854.4(COL11A1):c.2842C>T (p.Pro948Ser)
|
|
|
NM_001854.4(COL11A1):c.2846G>A (p.Gly949Glu)
|
|
|
NM_001854.4(COL11A1):c.284T>C (p.Phe95Ser)
|
rs2102303811
|
|
NM_001854.4(COL11A1):c.2851C>T (p.Arg951Cys)
|
|
|
NM_001854.4(COL11A1):c.2852G>A (p.Arg951His)
|
|
|
NM_001854.4(COL11A1):c.2855G>A (p.Gly952Glu)
|
|
|
NM_001854.4(COL11A1):c.2857G>A (p.Glu953Lys)
|
|
|
NM_001854.4(COL11A1):c.2862+11T>C
|
|
|
NM_001854.4(COL11A1):c.2862+15_2862+43del
|
|
|
NM_001854.4(COL11A1):c.2862+2T>C
|
|
|
NM_001854.4(COL11A1):c.2862+5G>A
|
rs1661827915
|
|
NM_001854.4(COL11A1):c.2862+8A>C
|
|
|
NM_001854.4(COL11A1):c.2863-13T>C
|
|
|
NM_001854.4(COL11A1):c.2863-4T>C
|
|
|
NM_001854.4(COL11A1):c.2874C>G (p.Gly958=)
|
|
|
NM_001854.4(COL11A1):c.2880C>A (p.Thr960=)
|
|
|
NM_001854.4(COL11A1):c.2880C>T (p.Thr960=)
|
|
|
NM_001854.4(COL11A1):c.2881G>A (p.Gly961Ser)
|
rs975084437
|
|
NM_001854.4(COL11A1):c.2883C>T (p.Gly961=)
|
rs2101595386
|
|
NM_001854.4(COL11A1):c.2893C>T (p.Pro965Ser)
|
|
|
NM_001854.4(COL11A1):c.2895A>G (p.Pro965=)
|
|
|
NM_001854.4(COL11A1):c.2897G>T (p.Gly966Val)
|
|
|
NM_001854.4(COL11A1):c.28A>G (p.Thr10Ala)
|
rs1448932139
|
|
NM_001854.4(COL11A1):c.2902G>A (p.Val968Met)
|
|
|
NM_001854.4(COL11A1):c.2906T>A (p.Val969Asp)
|
|
|
NM_001854.4(COL11A1):c.2916+12T>G
|
|
|
NM_001854.4(COL11A1):c.2916+19T>C
|
|
|
NM_001854.4(COL11A1):c.2916+19T>G
|
|
|
NM_001854.4(COL11A1):c.2916+1G>A
|
rs2101595036
|
|
NM_001854.4(COL11A1):c.2916+3_2916+6dup
|
|
|
NM_001854.4(COL11A1):c.2916+6T>C
|
rs2101594936
|
|
NM_001854.4(COL11A1):c.2917-12T>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.2942T>C (p.Ile981Thr)
|
|
|
NM_001854.4(COL11A1):c.2944G>A (p.Gly982Arg)
|
|
|
NM_001854.4(COL11A1):c.2950C>T (p.Arg984Cys)
|
|
|
NM_001854.4(COL11A1):c.295T>C (p.Phe99Leu)
|
rs2102303756
|
|
NM_001854.4(COL11A1):c.2964C>T (p.Gly988=)
|
|
|
NM_001854.4(COL11A1):c.2971G>T (p.Gly991Cys)
|
|
|
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=)
|
rs368868551
|
|
NM_001854.4(COL11A1):c.297T>C (p.Phe99=)
|
rs2102303746
|
|
NM_001854.4(COL11A1):c.2981G>A (p.Gly994Asp)
|
|
|
NM_001854.4(COL11A1):c.2983G>A (p.Glu995Lys)
|
rs1661034735
|
|
NM_001854.4(COL11A1):c.29C>A (p.Thr10Lys)
|
|
|
NM_001854.4(COL11A1):c.3003_3020del (p.Ala1002_Ala1007del)
|
|
|
NM_001854.4(COL11A1):c.3005C>T (p.Ala1002Val)
|
|
|
NM_001854.4(COL11A1):c.3006A>G (p.Ala1002=)
|
|
|
NM_001854.4(COL11A1):c.3010A>G (p.Lys1004Glu)
|
|
|
NM_001854.4(COL11A1):c.3011A>G (p.Lys1004Arg)
|
|
|
NM_001854.4(COL11A1):c.301A>G (p.Ile101Val)
|
rs751303776
|
|
NM_001854.4(COL11A1):c.3024+15A>G
|
|
|
NM_001854.4(COL11A1):c.3024+3A>G
|
rs2101575873
|
|
NM_001854.4(COL11A1):c.3024+4C>A
|
|
|
NM_001854.4(COL11A1):c.3025-16T>G
|
rs1256508014
|
|
NM_001854.4(COL11A1):c.3025-17T>C
|
|
|
NM_001854.4(COL11A1):c.3025-19T>A
|
rs2101572940
|
|
NM_001854.4(COL11A1):c.3025-19T>C
|
rs2101572940
|
|
NM_001854.4(COL11A1):c.3025-5T>G
|
rs1660986288
|
|
NM_001854.4(COL11A1):c.3027T>G (p.Gly1009=)
|
|
|
NM_001854.4(COL11A1):c.3031C>T (p.Pro1011Ser)
|
|
|
NM_001854.4(COL11A1):c.3035G>A (p.Gly1012Asp)
|
|
|
NM_001854.4(COL11A1):c.3043G>A (p.Gly1015Ser)
|
|
|
NM_001854.4(COL11A1):c.3044G>A (p.Gly1015Asp)
|
|
|
NM_001854.4(COL11A1):c.3044G>C (p.Gly1015Ala)
|
|
|
NM_001854.4(COL11A1):c.3051A>C (p.Ser1017=)
|
rs1570879161
|
|
NM_001854.4(COL11A1):c.3065C>G (p.Pro1022Arg)
|
|
|
NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=)
|
|
|
NM_001854.4(COL11A1):c.3073T>A (p.Leu1025Ile)
|
|
|
NM_001854.4(COL11A1):c.3085C>T (p.Pro1029Ser)
|
|
|
NM_001854.4(COL11A1):c.3093A>C (p.Glu1031Asp)
|
|
|
NM_001854.4(COL11A1):c.30G>A (p.Thr10=)
|
|
|
NM_001854.4(COL11A1):c.3109G>A (p.Ala1037Thr)
|
|
|
NM_001854.4(COL11A1):c.3114+13T>G
|
|
|
NM_001854.4(COL11A1):c.3114+14C>T
|
|
|
NM_001854.4(COL11A1):c.3114+1G>A
|
|
|
NM_001854.4(COL11A1):c.3114G>A (p.Gln1038=)
|
|
|
NM_001854.4(COL11A1):c.3115-11A>T
|
rs1424014484
|
|
NM_001854.4(COL11A1):c.3115-13del
|
|
|
NM_001854.4(COL11A1):c.3115-18T>G
|
rs1660950013
|
|
NM_001854.4(COL11A1):c.3115-19T>A
|
|
|
NM_001854.4(COL11A1):c.3115-2A>T
|
|
|
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)
|
rs764282256
|
|
NM_001854.4(COL11A1):c.3127C>A (p.Leu1043Met)
|
|
|
NM_001854.4(COL11A1):c.3138G>T (p.Gly1046=)
|
|
|
NM_001854.4(COL11A1):c.3145C>T (p.Pro1049Ser)
|
|
|
NM_001854.4(COL11A1):c.3154C>T (p.Pro1052Ser)
|
|
|
NM_001854.4(COL11A1):c.3158C>A (p.Pro1053Gln)
|
|
|
NM_001854.4(COL11A1):c.3159A>C (p.Pro1053=)
|
|
|
NM_001854.4(COL11A1):c.3161G>C (p.Gly1054Ala)
|
|
|
NM_001854.4(COL11A1):c.3168+13A>G
|
|
|
NM_001854.4(COL11A1):c.3168+1G>A
|
rs886042653
|
|
NM_001854.4(COL11A1):c.3168+1G>T
|
rs886042653
|
|
NM_001854.4(COL11A1):c.3168+3_3168+4insAG
|
|
|
NM_001854.4(COL11A1):c.3168+5G>C
|
|
|
NM_001854.4(COL11A1):c.3168+5del
|
|
|
NM_001854.4(COL11A1):c.3168+7A>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.3169-3T>C
|
|
|
NM_001854.4(COL11A1):c.3169-4C>A
|
rs2101408711
|
|
NM_001854.4(COL11A1):c.3169-5A>T
|
rs778254056
|
|
NM_001854.4(COL11A1):c.3169-7A>G
|
|
|
NM_001854.4(COL11A1):c.3169-9G>T
|
|
|
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)
|
|
|
NM_001854.4(COL11A1):c.3175C>T (p.Pro1059Ser)
|
|
|
NM_001854.4(COL11A1):c.3179_3181del (p.Gly1060del)
|
|
|
NM_001854.4(COL11A1):c.3184C>T (p.Arg1062Cys)
|
|
|
NM_001854.4(COL11A1):c.3195A>G (p.Ala1065=)
|
|
|
NM_001854.4(COL11A1):c.3203C>G (p.Ala1068Gly)
|
|
|
NM_001854.4(COL11A1):c.3211A>G (p.Ile1071Val)
|
|
|
NM_001854.4(COL11A1):c.3212T>C (p.Ile1071Thr)
|
|
|
NM_001854.4(COL11A1):c.3216T>C (p.Gly1072=)
|
|
|
NM_001854.4(COL11A1):c.3219A>G (p.Leu1073=)
|
rs759784635
|
|
NM_001854.4(COL11A1):c.3221C>T (p.Pro1074Leu)
|
|
|
NM_001854.4(COL11A1):c.3222A>G (p.Pro1074=)
|
|
|
NM_001854.4(COL11A1):c.3224G>A (p.Gly1075Glu)
|
|
|
NM_001854.4(COL11A1):c.3226C>T (p.Arg1076Cys)
|
rs1659348330
|
|
NM_001854.4(COL11A1):c.3229C>G (p.Pro1077Ala)
|
rs144562769
|
|
NM_001854.4(COL11A1):c.3229C>T (p.Pro1077Ser)
|
|
|
NM_001854.4(COL11A1):c.3231G>T (p.Pro1077=)
|
|
|
NM_001854.4(COL11A1):c.3235C>T (p.Pro1079Ser)
|
|
|
NM_001854.4(COL11A1):c.323A>G (p.Lys108Arg)
|
rs1173736609
|
|
NM_001854.4(COL11A1):c.3246T>C (p.Pro1082=)
|
|
|
NM_001854.4(COL11A1):c.3249T>C (p.Pro1083=)
|
|
|
NM_001854.4(COL11A1):c.3258T>C (p.Ala1086=)
|
|
|
NM_001854.4(COL11A1):c.3263A>C (p.Glu1088Ala)
|
rs890128212
|
|
NM_001854.4(COL11A1):c.3271G>C (p.Ala1091Pro)
|
|
|
NM_001854.4(COL11A1):c.3274_3276del (p.Pro1092del)
|
|
|
NM_001854.4(COL11A1):c.3276+13T>C
|
|
|
NM_001854.4(COL11A1):c.3276+14A>G
|
|
|
NM_001854.4(COL11A1):c.3276+16G>A
|
|
|
NM_001854.4(COL11A1):c.3276+1_3276+2insGACA
|
|
|
NM_001854.4(COL11A1):c.3276+5G>A
|
rs2101406246
|
|
NM_001854.4(COL11A1):c.3277-20T>A
|
|
|
NM_001854.4(COL11A1):c.3277-9T>A
|
|
|
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala)
|
rs1477374848
|
|
NM_001854.4(COL11A1):c.327A>T (p.Lys109Asn)
|
|
|
NM_001854.4(COL11A1):c.3280G>A (p.Glu1094Lys)
|
|
|
NM_001854.4(COL11A1):c.3281A>T (p.Glu1094Val)
|
|
|
NM_001854.4(COL11A1):c.3286G>C (p.Gly1096Arg)
|
|
|
NM_001854.4(COL11A1):c.3286G>T (p.Gly1096Cys)
|
|
|
NM_001854.4(COL11A1):c.3287G>A (p.Gly1096Asp)
|
|
|
NM_001854.4(COL11A1):c.3292C>T (p.Gln1098Ter)
|
rs2101305801
|
|
NM_001854.4(COL11A1):c.3297G>A (p.Gly1099=)
|
|
|
NM_001854.4(COL11A1):c.3305G>A (p.Gly1102Glu)
|
rs533762144
|
|
NM_001854.4(COL11A1):c.3312T>A (p.Asp1104Glu)
|
|
|
NM_001854.4(COL11A1):c.3312T>C (p.Asp1104=)
|
|
|
NM_001854.4(COL11A1):c.3315A>T (p.Gly1105=)
|
|
|
NM_001854.4(COL11A1):c.3324T>C (p.Gly1108=)
|
rs2101305045
|
|
NM_001854.4(COL11A1):c.3327T>C (p.Pro1109=)
|
|
|
NM_001854.4(COL11A1):c.3335_3336inv (p.Leu1112Arg)
|
|
|
NM_001854.4(COL11A1):c.3337C>G (p.Pro1113Ala)
|
|
|
NM_001854.4(COL11A1):c.3354T>G (p.Pro1118=)
|
|
|
NM_001854.4(COL11A1):c.3360C>T (p.Gly1120=)
|
rs2101304198
|
|
NM_001854.4(COL11A1):c.3362C>A (p.Ser1121Tyr)
|
|
|
NM_001854.4(COL11A1):c.3362C>T (p.Ser1121Phe)
|
|
|
NM_001854.4(COL11A1):c.3368G>C (p.Gly1123Ala)
|
|
|
NM_001854.4(COL11A1):c.336G>A (p.Gln112=)
|
|
|
NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu)
|
rs17127270
|
|
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=)
|
rs17127270
|
|
NM_001854.4(COL11A1):c.3376G>A (p.Gly1126Arg)
|
|
|
NM_001854.4(COL11A1):c.3384+12T>G
|
|
|
NM_001854.4(COL11A1):c.3384+14del
|
|
|
NM_001854.4(COL11A1):c.3384+17C>T
|
|
|
NM_001854.4(COL11A1):c.3384+18G>T
|
|
|
NM_001854.4(COL11A1):c.3384+20G>A
|
rs2101303308
|
|
NM_001854.4(COL11A1):c.3384G>A (p.Lys1128=)
|
|
|
NM_001854.4(COL11A1):c.3385-17A>C
|
|
|
NM_001854.4(COL11A1):c.3385-18C>T
|
|
|
NM_001854.4(COL11A1):c.3385-2A>C
|
|
|
NM_001854.4(COL11A1):c.3385-8A>C
|
|
|
NM_001854.4(COL11A1):c.3392T>C (p.Ile1131Thr)
|
|
|
NM_001854.4(COL11A1):c.3400C>A (p.Pro1134Thr)
|
|
|
NM_001854.4(COL11A1):c.3417C>A (p.Ser1139Arg)
|
|
|
NM_001854.4(COL11A1):c.3421G>A (p.Gly1141Ser)
|
|
|
NM_001854.4(COL11A1):c.3429G>C (p.Lys1143Asn)
|
|
|
NM_001854.4(COL11A1):c.3430G>A (p.Gly1144Arg)
|
|
|
NM_001854.4(COL11A1):c.3436A>G (p.Asn1146Asp)
|
|
|
NM_001854.4(COL11A1):c.3438+12A>G
|
|
|
NM_001854.4(COL11A1):c.3438+20C>G
|
|
|
NM_001854.4(COL11A1):c.3438+2T>G
|
rs2101282041
|
|
NM_001854.4(COL11A1):c.3438+2_3438+3del
|
rs1557847904
|
|
NM_001854.4(COL11A1):c.3439-13T>A
|
|
|
NM_001854.4(COL11A1):c.3439G>A (p.Gly1147Ser)
|
rs1658011510
|
|
NM_001854.4(COL11A1):c.3441C>T (p.Gly1147=)
|
|
|
NM_001854.4(COL11A1):c.3445C>T (p.Pro1149Ser)
|
|
|
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.3478G>A (p.Ala1160Thr)
|
|
|
NM_001854.4(COL11A1):c.3479C>A (p.Ala1160Asp)
|
rs1658006964
|
|
NM_001854.4(COL11A1):c.3492+10C>T
|
|
|
NM_001854.4(COL11A1):c.3492+15T>A
|
|
|
NM_001854.4(COL11A1):c.3492+18T>C
|
|
|
NM_001854.4(COL11A1):c.3492+20C>T
|
rs1374170381
|
|
NM_001854.4(COL11A1):c.3492+9T>A
|
|
|
NM_001854.4(COL11A1):c.3492T>C (p.Ala1164=)
|
|
|
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.3494G>T (p.Gly1165Val)
|
|
|
NM_001854.4(COL11A1):c.3495A>C (p.Gly1165=)
|
|
|
NM_001854.4(COL11A1):c.3495A>G (p.Gly1165=)
|
rs1553208812
|
|
NM_001854.4(COL11A1):c.3497G>C (p.Gly1166Ala)
|
|
|
NM_001854.4(COL11A1):c.34C>T (p.Arg12Trp)
|
|
|
NM_001854.4(COL11A1):c.3501T>C (p.Asp1167=)
|
rs2101214575
|
|
NM_001854.4(COL11A1):c.3508C>T (p.Pro1170Ser)
|
|
|
NM_001854.4(COL11A1):c.3509C>G (p.Pro1170Arg)
|
|
|
NM_001854.4(COL11A1):c.3517A>G (p.Arg1173Gly)
|
|
|
NM_001854.4(COL11A1):c.3521G>A (p.Gly1174Glu)
|
|
|
NM_001854.4(COL11A1):c.3524A>G (p.Gln1175Arg)
|
|
|
NM_001854.4(COL11A1):c.3526C>G (p.Gln1176Glu)
|
|
|
NM_001854.4(COL11A1):c.3527A>G (p.Gln1176Arg)
|
|
|
NM_001854.4(COL11A1):c.3528G>A (p.Gln1176=)
|
rs755406698
|
|
NM_001854.4(COL11A1):c.3528G>C (p.Gln1176His)
|
rs755406698
|
|
NM_001854.4(COL11A1):c.3529G>A (p.Gly1177Arg)
|
|
|
NM_001854.4(COL11A1):c.352A>G (p.Ile118Val)
|
|
|
NM_001854.4(COL11A1):c.3535T>C (p.Phe1179Leu)
|
rs2101214143
|
|
NM_001854.4(COL11A1):c.3537T>C (p.Phe1179=)
|
|
|
NM_001854.4(COL11A1):c.3546dup (p.Gly1183fs)
|
|
|
NM_001854.4(COL11A1):c.3549T>A (p.Gly1183=)
|
|
|
NM_001854.4(COL11A1):c.3556G>T (p.Gly1186Cys)
|
rs1657938790
|
|
NM_001854.4(COL11A1):c.3569_3590del (p.Gly1189_Phe1190insTer)
|
|
|
NM_001854.4(COL11A1):c.3575G>T (p.Gly1192Val)
|
|
|
NM_001854.4(COL11A1):c.3578C>G (p.Pro1193Arg)
|
|
|
NM_001854.4(COL11A1):c.3579T>C (p.Pro1193=)
|
|
|
NM_001854.4(COL11A1):c.3586C>T (p.Pro1196Ser)
|
|
|
NM_001854.4(COL11A1):c.3590T>C (p.Ile1197Thr)
|
|
|
NM_001854.4(COL11A1):c.3592G>T (p.Gly1198Cys)
|
|
|
NM_001854.4(COL11A1):c.3595C>A (p.Leu1199Ile)
|
|
|
NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro)
|
rs767496065
|
|
NM_001854.4(COL11A1):c.3600+11C>T
|
|
|
NM_001854.4(COL11A1):c.3600+14G>C
|
rs774149721
|
|
NM_001854.4(COL11A1):c.3600+1G>A
|
rs2101213034
|
|
NM_001854.4(COL11A1):c.3600+6A>T
|
|
|
NM_001854.4(COL11A1):c.3601-19T>G
|
|
|
NM_001854.4(COL11A1):c.3601-2A>G
|
|
|
NM_001854.4(COL11A1):c.3601-2A>T
|
|
|
NM_001854.4(COL11A1):c.3601-8T>A
|
|
|
NM_001854.4(COL11A1):c.3602G>T (p.Gly1201Val)
|
rs1016660094
|
|
NM_001854.4(COL11A1):c.360T>C (p.Asn120=)
|
|
|
NM_001854.4(COL11A1):c.3613C>G (p.Pro1205Ala)
|
|
|
NM_001854.4(COL11A1):c.3618T>G (p.Pro1206=)
|
|
|
NM_001854.4(COL11A1):c.3619G>T (p.Gly1207Cys)
|
|
|
NM_001854.4(COL11A1):c.361G>A (p.Glu121Lys)
|
|
|
NM_001854.4(COL11A1):c.3621T>A (p.Gly1207=)
|
|
|
NM_001854.4(COL11A1):c.3623A>G (p.Glu1208Gly)
|
|
|
NM_001854.4(COL11A1):c.3627_3635del (p.Lys1209_Glu1211del)
|
|
|
NM_001854.4(COL11A1):c.3634_3636del (p.Asn1212del)
|
|
|
NM_001854.4(COL11A1):c.3637G>A (p.Gly1213Arg)
|
|
|
NM_001854.4(COL11A1):c.3638G>A (p.Gly1213Glu)
|
|
|
NM_001854.4(COL11A1):c.3646G>A (p.Gly1216Ser)
|
rs2101086556
|
|
NM_001854.4(COL11A1):c.3647G>C (p.Gly1216Ala)
|
rs1570740272
|
|
NM_001854.4(COL11A1):c.3648T>C (p.Gly1216=)
|
|
|
NM_001854.4(COL11A1):c.364C>T (p.His122Tyr)
|
|
|
NM_001854.4(COL11A1):c.3653T>C (p.Met1218Thr)
|
|
|
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+2T>C
|
|
|
NM_001854.4(COL11A1):c.3654+4dup
|
|
|
NM_001854.4(COL11A1):c.3654+8T>C
|
|
|
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.3655-3C>G
|
rs372709465
|
|
NM_001854.4(COL11A1):c.3655-3C>T
|
|
|
NM_001854.4(COL11A1):c.3655-8T>A
|
|
|
NM_001854.4(COL11A1):c.3655-9C>T
|
|
|
NM_001854.4(COL11A1):c.3658C>T (p.Pro1220Ser)
|
|
|
NM_001854.4(COL11A1):c.3669T>C (p.Pro1223=)
|
rs1655993743
|
|
NM_001854.4(COL11A1):c.366T>G (p.His122Gln)
|
|
|
NM_001854.4(COL11A1):c.3671C>G (p.Pro1224Arg)
|
|
|
NM_001854.4(COL11A1):c.3675C>A (p.Gly1225=)
|
|
|
NM_001854.4(COL11A1):c.3675C>T (p.Gly1225=)
|
|
|
NM_001854.4(COL11A1):c.3677C>G (p.Pro1226Arg)
|
|
|
NM_001854.4(COL11A1):c.3679A>G (p.Arg1227Gly)
|
|
|
NM_001854.4(COL11A1):c.367G>A (p.Gly123Ser)
|
|
|
NM_001854.4(COL11A1):c.3680G>A (p.Arg1227Lys)
|
|
|
NM_001854.4(COL11A1):c.3683G>A (p.Gly1228Asp)
|
|
|
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)
|
rs750291363
|
|
NM_001854.4(COL11A1):c.3697A>G (p.Asn1233Asp)
|
|
|
NM_001854.4(COL11A1):c.3704C>A (p.Ala1235Asp)
|
|
|
NM_001854.4(COL11A1):c.3708+15AT[2]
|
|
|
NM_001854.4(COL11A1):c.3708+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.3709G>A (p.Gly1237Arg)
|
rs2101066917
|
|
NM_001854.4(COL11A1):c.3714A>G (p.Pro1238=)
|
|
|
NM_001854.4(COL11A1):c.3715C>A (p.Gln1239Lys)
|
|
|
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs)
|
rs2101066868
|
|
NM_001854.4(COL11A1):c.3721C>T (p.Pro1241Ser)
|
|
|
NM_001854.4(COL11A1):c.3722C>T (p.Pro1241Leu)
|
rs151195708
|
|
NM_001854.4(COL11A1):c.3723C>T (p.Pro1241=)
|
|
|
NM_001854.4(COL11A1):c.3737G>T (p.Gly1246Val)
|
rs2101066674
|
|
NM_001854.4(COL11A1):c.373C>G (p.Gln125Glu)
|
|
|
NM_001854.4(COL11A1):c.3740C>G (p.Ser1247Ter)
|
rs1655833195
|
|
NM_001854.4(COL11A1):c.3743T>C (p.Val1248Ala)
|
|
|
NM_001854.4(COL11A1):c.3745G>A (p.Gly1249Ser)
|
|
|
NM_001854.4(COL11A1):c.3751G>A (p.Val1251Ile)
|
|
|
NM_001854.4(COL11A1):c.3753T>G (p.Val1251=)
|
|
|
NM_001854.4(COL11A1):c.3755G>C (p.Gly1252Ala)
|
|
|
NM_001854.4(COL11A1):c.3757G>A (p.Glu1253Lys)
|
|
|
NM_001854.4(COL11A1):c.3758A>G (p.Glu1253Gly)
|
rs2101066506
|
|
NM_001854.4(COL11A1):c.3762+2T>G
|
|
|
NM_001854.4(COL11A1):c.3762G>A (p.Lys1254=)
|
|
|
NM_001854.4(COL11A1):c.3762G>T (p.Lys1254Asn)
|
rs2101066494
|
|
NM_001854.4(COL11A1):c.3763-13C>A
|
|
|
NM_001854.4(COL11A1):c.3763-17T>C
|
|
|
NM_001854.4(COL11A1):c.3763-17T>G
|
|
|
NM_001854.4(COL11A1):c.3763-2A>C
|
|
|
NM_001854.4(COL11A1):c.3763-3T>C
|
|
|
NM_001854.4(COL11A1):c.3763-6A>C
|
|
|
NM_001854.4(COL11A1):c.3775G>C (p.Glu1259Gln)
|
|
|
NM_001854.4(COL11A1):c.3779C>T (p.Ala1260Val)
|
rs750838060
|
|
NM_001854.4(COL11A1):c.3783G>A (p.Gly1261=)
|
|
|
NM_001854.4(COL11A1):c.3783G>T (p.Gly1261=)
|
rs2101039217
|
|
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=)
|
rs144729226
|
|
NM_001854.4(COL11A1):c.3790G>C (p.Gly1264Arg)
|
|
|
NM_001854.4(COL11A1):c.379A>G (p.Ile127Val)
|
|
|
NM_001854.4(COL11A1):c.3804A>G (p.Glu1268=)
|
rs2101039058
|
|
NM_001854.4(COL11A1):c.3810_3816+2del
|
|
|
NM_001854.4(COL11A1):c.3811G>A (p.Val1271Ile)
|
rs150669855
|
|
NM_001854.4(COL11A1):c.3816+17T>C
|
|
|
NM_001854.4(COL11A1):c.3816+18_3816+20del
|
|
|
NM_001854.4(COL11A1):c.3816+1G>A
|
rs398122828
|
|
NM_001854.4(COL11A1):c.3816+1G>C
|
rs398122828
|
|
NM_001854.4(COL11A1):c.3816+1G>T
|
|
|
NM_001854.4(COL11A1):c.3816+2dup
|
rs1469787406
|
|
NM_001854.4(COL11A1):c.3816+5G>A
|
rs1057524237
|
|
NM_001854.4(COL11A1):c.3817-11A>C
|
|
|
NM_001854.4(COL11A1):c.3817-11dup
|
rs2101033263
|
|
NM_001854.4(COL11A1):c.3817-13_3817-12insC
|
|
|
NM_001854.4(COL11A1):c.3817-13del
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3817-14_3817-13del
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3817-14_3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3817-15_3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3817-3T>G
|
|
|
NM_001854.4(COL11A1):c.3817-6G>A
|
|
|
NM_001854.4(COL11A1):c.3817-9A>G
|
|
|
NM_001854.4(COL11A1):c.3828A>G (p.Gly1276=)
|
|
|
NM_001854.4(COL11A1):c.3830A>G (p.Glu1277Gly)
|
|
|
NM_001854.4(COL11A1):c.3836G>T (p.Gly1279Val)
|
|
|
NM_001854.4(COL11A1):c.3837A>T (p.Gly1279=)
|
|
|
NM_001854.4(COL11A1):c.3840G>T (p.Glu1280Asp)
|
|
|
NM_001854.4(COL11A1):c.3843A>T (p.Lys1281Asn)
|
|
|
NM_001854.4(COL11A1):c.3845G>A (p.Gly1282Glu)
|
|
|
NM_001854.4(COL11A1):c.3845G>C (p.Gly1282Ala)
|
|
|
NM_001854.4(COL11A1):c.3848A>C (p.Glu1283Ala)
|
|
|
NM_001854.4(COL11A1):c.3851C>A (p.Ala1284Asp)
|
|
|
NM_001854.4(COL11A1):c.3851C>G (p.Ala1284Gly)
|
|
|
NM_001854.4(COL11A1):c.3853G>C (p.Gly1285Arg)
|
|
|
NM_001854.4(COL11A1):c.3861T>A (p.Pro1287=)
|
|
|
NM_001854.4(COL11A1):c.3871G>A (p.Gly1291Arg)
|
|
|
NM_001854.4(COL11A1):c.3875C>A (p.Pro1292His)
|
|
|
NM_001854.4(COL11A1):c.3884C>A (p.Ala1295Asp)
|
|
|
NM_001854.4(COL11A1):c.3887A>G (p.Lys1296Arg)
|
rs1459686009
|
|
NM_001854.4(COL11A1):c.3891G>A (p.Gly1297=)
|
|
|
NM_001854.4(COL11A1):c.3895C>A (p.Pro1299Thr)
|
rs200465040
|
|
NM_001854.4(COL11A1):c.3896C>G (p.Pro1299Arg)
|
|
|
NM_001854.4(COL11A1):c.3898G>A (p.Gly1300Ser)
|
|
|
NM_001854.4(COL11A1):c.3899G>A (p.Gly1300Asp)
|
rs2101032411
|
|
NM_001854.4(COL11A1):c.3914A>C (p.Lys1305Thr)
|
|
|
NM_001854.4(COL11A1):c.3919A>G (p.Asn1307Asp)
|
|
|
NM_001854.4(COL11A1):c.391G>A (p.Val131Ile)
|
|
|
NM_001854.4(COL11A1):c.3924+13G>A
|
|
|
NM_001854.4(COL11A1):c.3924+15del
|
|
|
NM_001854.4(COL11A1):c.3924+4A>C
|
rs2101032268
|
|
NM_001854.4(COL11A1):c.3924G>A (p.Pro1308=)
|
|
|
NM_001854.4(COL11A1):c.3925-10G>A
|
rs773007335
|
|
NM_001854.4(COL11A1):c.3925-10G>T
|
rs773007335
|
|
NM_001854.4(COL11A1):c.3925-2A>G
|
|
|
NM_001854.4(COL11A1):c.3925-5T>G
|
|
|
NM_001854.4(COL11A1):c.3925G>A (p.Gly1309Ser)
|
|
|
NM_001854.4(COL11A1):c.3926G>A (p.Gly1309Asp)
|
|
|
NM_001854.4(COL11A1):c.3928C>A (p.Pro1310Thr)
|
|
|
NM_001854.4(COL11A1):c.3928C>G (p.Pro1310Ala)
|
|
|
NM_001854.4(COL11A1):c.3931G>C (p.Val1311Leu)
|
|
|
NM_001854.4(COL11A1):c.3933T>A (p.Val1311=)
|
|
|
NM_001854.4(COL11A1):c.3934G>T (p.Gly1312Cys)
|
rs2101030448
|
|
NM_001854.4(COL11A1):c.3939del (p.Pro1314fs)
|
|
|
NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter)
|
rs1557812993
|
|
NM_001854.4(COL11A1):c.3946G>T (p.Asp1316Tyr)
|
|
|
NM_001854.4(COL11A1):c.3949C>A (p.Pro1317Thr)
|
|
|
NM_001854.4(COL11A1):c.3949C>T (p.Pro1317Ser)
|
rs1190686816
|
|
NM_001854.4(COL11A1):c.3954T>A (p.Gly1318=)
|
|
|
NM_001854.4(COL11A1):c.3956C>T (p.Pro1319Leu)
|
|
|
NM_001854.4(COL11A1):c.3963G>A (p.Gly1321=)
|
|
|
NM_001854.4(COL11A1):c.3967C>T (p.Pro1323Ser)
|
|
|
NM_001854.4(COL11A1):c.3977C>G (p.Ala1326Gly)
|
|
|
NM_001854.4(COL11A1):c.3978+11G>A
|
|
|
NM_001854.4(COL11A1):c.3978+12G>A
|
|
|
NM_001854.4(COL11A1):c.3978+1G>C
|
rs1570712889
|
|
NM_001854.4(COL11A1):c.3978+20C>T
|
|
|
NM_001854.4(COL11A1):c.3978+4A>G
|
rs1255959388
|
|
NM_001854.4(COL11A1):c.3978+4_3978+7del
|
|
|
NM_001854.4(COL11A1):c.3978+5G>A
|
|
|
NM_001854.4(COL11A1):c.3978+6T>C
|
|
|
NM_001854.4(COL11A1):c.3978+7A>G
|
|
|
NM_001854.4(COL11A1):c.3978A>G (p.Ala1326=)
|
|
|
NM_001854.4(COL11A1):c.3979-12T>C
|
rs2101026303
|
|
NM_001854.4(COL11A1):c.3979-14A>G
|
|
|
NM_001854.4(COL11A1):c.3979-19A>G
|
|
|
NM_001854.4(COL11A1):c.3979-4A>T
|
|
|
NM_001854.4(COL11A1):c.3985G>T (p.Asp1329Tyr)
|
|
|
NM_001854.4(COL11A1):c.3989G>A (p.Gly1330Asp)
|
rs547219683
|
|
NM_001854.4(COL11A1):c.3991G>A (p.Val1331Ile)
|
|
|
NM_001854.4(COL11A1):c.3995G>T (p.Gly1332Val)
|
|
|
NM_001854.4(COL11A1):c.4002_4010del (p.Asp1334_Gly1336del)
|
rs2101026073
|
|
NM_001854.4(COL11A1):c.4009G>A (p.Glu1337Lys)
|
rs1654969028
|
|
NM_001854.4(COL11A1):c.4012G>A (p.Asp1338Asn)
|
|
|
NM_001854.4(COL11A1):c.4014T>C (p.Asp1338=)
|
|
|
NM_001854.4(COL11A1):c.4019A>G (p.Asp1340Gly)
|
|
|
NM_001854.4(COL11A1):c.4028A>G (p.Gln1343Arg)
|
|
|
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.4032+1G>A
|
rs1553200868
|
|
NM_001854.4(COL11A1):c.4033-13dup
|
rs771716882
|
|
NM_001854.4(COL11A1):c.4033-1G>C
|
rs2101017052
|
|
NM_001854.4(COL11A1):c.4033-20T>C
|
rs751133123
|
|
NM_001854.4(COL11A1):c.4033-5del
|
|
|
NM_001854.4(COL11A1):c.4040C>T (p.Pro1347Leu)
|
|
|
NM_001854.4(COL11A1):c.4043G>A (p.Gly1348Asp)
|
|
|
NM_001854.4(COL11A1):c.4044C>A (p.Gly1348=)
|
|
|
NM_001854.4(COL11A1):c.4048T>C (p.Ser1350Pro)
|
|
|
NM_001854.4(COL11A1):c.4051G>T (p.Gly1351Cys)
|
|
|
NM_001854.4(COL11A1):c.4056G>T (p.Glu1352Asp)
|
|
|
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.4066C>A (p.Pro1356Thr)
|
rs772400369
|
|
NM_001854.4(COL11A1):c.4067_4068del (p.Pro1356fs)
|
|
|
NM_001854.4(COL11A1):c.4070G>A (p.Gly1357Asp)
|
|
|
NM_001854.4(COL11A1):c.4070G>T (p.Gly1357Val)
|
|
|
NM_001854.4(COL11A1):c.4075C>T (p.Pro1359Ser)
|
|
|
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)
|
rs755987732
|
|
NM_001854.4(COL11A1):c.4085G>A (p.Arg1362Gln)
|
|
|
NM_001854.4(COL11A1):c.4085G>T (p.Arg1362Leu)
|
|
|
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+5G>A
|
|
|
NM_001854.4(COL11A1):c.4086+8T>G
|
rs2101016547
|
|
NM_001854.4(COL11A1):c.4087-13C>G
|
|
|
NM_001854.4(COL11A1):c.4087-15A>G
|
|
|
NM_001854.4(COL11A1):c.4087-19A>G
|
|
|
NM_001854.4(COL11A1):c.4087-7T>C
|
|
|
NM_001854.4(COL11A1):c.4094C>T (p.Pro1365Leu)
|
rs1652816919
|
|
NM_001854.4(COL11A1):c.409T>G (p.Phe137Val)
|
|
|
NM_001854.4(COL11A1):c.4121A>G (p.Gln1374Arg)
|
|
|
NM_001854.4(COL11A1):c.4127A>T (p.Glu1376Val)
|
|
|
NM_001854.4(COL11A1):c.4135G>A (p.Ala1379Thr)
|
|
|
NM_001854.4(COL11A1):c.4137T>G (p.Ala1379=)
|
rs2100925362
|
|
NM_001854.4(COL11A1):c.4139A>G (p.Lys1380Arg)
|
|
|
NM_001854.4(COL11A1):c.4140+11A>T
|
|
|
NM_001854.4(COL11A1):c.4140+12del
|
rs201645288
|
|
NM_001854.4(COL11A1):c.4140+12dup
|
rs201645288
|
|
NM_001854.4(COL11A1):c.4140+13_4140+14del
|
|
|
NM_001854.4(COL11A1):c.4140+14A>T
|
|
|
NM_001854.4(COL11A1):c.4140+16T>A
|
rs943476190
|
|
NM_001854.4(COL11A1):c.4140+17A>G
|
|
|
NM_001854.4(COL11A1):c.4140+18T>C
|
|
|
NM_001854.4(COL11A1):c.4141-14T>A
|
|
|
NM_001854.4(COL11A1):c.4141-2del
|
|
|
NM_001854.4(COL11A1):c.4141-9_4141-6del
|
|
|
NM_001854.4(COL11A1):c.4142G>T (p.Gly1381Val)
|
|
|
NM_001854.4(COL11A1):c.4151G>T (p.Gly1384Val)
|
|
|
NM_001854.4(COL11A1):c.4167T>C (p.Pro1389=)
|
rs754697310
|
|
NM_001854.4(COL11A1):c.4171A>G (p.Lys1391Glu)
|
rs2100923419
|
|
NM_001854.4(COL11A1):c.4172A>T (p.Lys1391Ile)
|
|
|
NM_001854.4(COL11A1):c.4176C>T (p.Thr1392=)
|
|
|
NM_001854.4(COL11A1):c.4177G>T (p.Gly1393Cys)
|
|
|
NM_001854.4(COL11A1):c.4186G>A (p.Gly1396Ser)
|
|
|
NM_001854.4(COL11A1):c.4193A>G (p.Gln1398Arg)
|
|
|
NM_001854.4(COL11A1):c.4195G>C (p.Gly1399Arg)
|
|
|
NM_001854.4(COL11A1):c.4202C>A (p.Ala1401Glu)
|
rs2100922988
|
|
NM_001854.4(COL11A1):c.4213G>C (p.Gly1405Arg)
|
rs376137502
|
|
NM_001854.4(COL11A1):c.4218A>G (p.Pro1406=)
|
|
|
NM_001854.4(COL11A1):c.4228C>G (p.Arg1410Gly)
|
|
|
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.4237C>T (p.Pro1413Ser)
|
|
|
NM_001854.4(COL11A1):c.4240G>T (p.Gly1414Cys)
|
|
|
NM_001854.4(COL11A1):c.4243C>G (p.Pro1415Ala)
|
rs2100922475
|
|
NM_001854.4(COL11A1):c.4247T>C (p.Val1416Ala)
|
|
|
NM_001854.4(COL11A1):c.4248+13G>A
|
|
|
NM_001854.4(COL11A1):c.4248+5G>A
|
rs2100922391
|
|
NM_001854.4(COL11A1):c.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.4303-13del
|
rs35232764
|
|
NM_001854.4(COL11A1):c.4303-13dup
|
rs35232764
|
|
NM_001854.4(COL11A1):c.4303-14T>C
|
|
|
NM_001854.4(COL11A1):c.4303-14_4303-13del
|
|
|
NM_001854.4(COL11A1):c.4303-14_4303-13dup
|
rs35232764
|
|
NM_001854.4(COL11A1):c.4303-22_4303-20delinsGAA
|
rs2100864833
|
|
NM_001854.4(COL11A1):c.4303-3T>G
|
rs2100864517
|
|
NM_001854.4(COL11A1):c.4303-8T>C
|
|
|
NM_001854.4(COL11A1):c.4305A>G (p.Gly1435=)
|
|
|
NM_001854.4(COL11A1):c.4306C>T (p.Pro1436Ser)
|
|
|
NM_001854.4(COL11A1):c.4310C>A (p.Pro1437His)
|
|
|
NM_001854.4(COL11A1):c.4312G>A (p.Gly1438Ser)
|
|
|
NM_001854.4(COL11A1):c.4317A>T (p.Leu1439Phe)
|
|
|
NM_001854.4(COL11A1):c.4319C>G (p.Pro1440Arg)
|
|
|
NM_001854.4(COL11A1):c.4321G>A (p.Gly1441Ser)
|
rs774928560
|
|
NM_001854.4(COL11A1):c.4322G>A (p.Gly1441Asp)
|
|
|
NM_001854.4(COL11A1):c.4327A>G (p.Lys1443Glu)
|
|
|
NM_001854.4(COL11A1):c.4332T>C (p.Gly1444=)
|
|
|
NM_001854.4(COL11A1):c.4335C>A (p.Asp1445Glu)
|
|
|
NM_001854.4(COL11A1):c.4341C>A (p.Gly1447=)
|
rs2100864112
|
|
NM_001854.4(COL11A1):c.4348G>C (p.Gly1450Arg)
|
|
|
NM_001854.4(COL11A1):c.4356+13G>A
|
rs377662745
|
|
NM_001854.4(COL11A1):c.4356+13G>T
|
rs377662745
|
|
NM_001854.4(COL11A1):c.4356+15A>C
|
|
|
NM_001854.4(COL11A1):c.4356+17G>A
|
rs778398537
|
|
NM_001854.4(COL11A1):c.4356+2T>C
|
rs2100864027
|
|
NM_001854.4(COL11A1):c.4356+3G>A
|
|
|
NM_001854.4(COL11A1):c.4356+7A>C
|
|
|
NM_001854.4(COL11A1):c.4357-11G>T
|
|
|
NM_001854.4(COL11A1):c.4357-15C>A
|
|
|
NM_001854.4(COL11A1):c.4357-16dup
|
rs748850423
|
|
NM_001854.4(COL11A1):c.4357-17T>C
|
|
|
NM_001854.4(COL11A1):c.4357-17T>G
|
|
|
NM_001854.4(COL11A1):c.4363C>G (p.Pro1455Ala)
|
|
|
NM_001854.4(COL11A1):c.4381A>G (p.Ile1461Val)
|
rs2100858136
|
|
NM_001854.4(COL11A1):c.4382T>C (p.Ile1461Thr)
|
rs1651477480
|
|
NM_001854.4(COL11A1):c.4400A>G (p.Gln1467Arg)
|
|
|
NM_001854.4(COL11A1):c.4411G>T (p.Gly1471Cys)
|
rs1057522949
|
|
NM_001854.4(COL11A1):c.4412G>T (p.Gly1471Val)
|
|
|
NM_001854.4(COL11A1):c.4417C>G (p.Arg1473Gly)
|
|
|
NM_001854.4(COL11A1):c.4417C>T (p.Arg1473Ter)
|
|
|
NM_001854.4(COL11A1):c.4418G>A (p.Arg1473Gln)
|
|
|
NM_001854.4(COL11A1):c.4423C>T (p.Leu1475Phe)
|
|
|
NM_001854.4(COL11A1):c.4425C>T (p.Leu1475=)
|
|
|
NM_001854.4(COL11A1):c.442C>T (p.Pro148Ser)
|
rs1322123798
|
|
NM_001854.4(COL11A1):c.4436A>G (p.Gln1479Arg)
|
|
|
NM_001854.4(COL11A1):c.4445C>T (p.Pro1482Leu)
|
|
|
NM_001854.4(COL11A1):c.4450G>A (p.Ala1484Thr)
|
|
|
NM_001854.4(COL11A1):c.4457G>A (p.Gly1486Glu)
|
|
|
NM_001854.4(COL11A1):c.4464+16G>C
|
rs1651460619
|
|
NM_001854.4(COL11A1):c.4464+19del
|
|
|
NM_001854.4(COL11A1):c.4465-10C>A
|
|
|
NM_001854.4(COL11A1):c.4465-10CT[3]
|
|
|
NM_001854.4(COL11A1):c.4465-14G>C
|
|
|
NM_001854.4(COL11A1):c.4465-4C>G
|
|
|
NM_001854.4(COL11A1):c.4465-5T>G
|
|
|
NM_001854.4(COL11A1):c.4465-6C>G
|
|
|
NM_001854.4(COL11A1):c.4470T>A (p.Ile1490=)
|
rs2100853669
|
|
NM_001854.4(COL11A1):c.4471C>A (p.Pro1491Thr)
|
|
|
NM_001854.4(COL11A1):c.4477C>A (p.Pro1493Thr)
|
|
|
NM_001854.4(COL11A1):c.4493G>A (p.Gly1498Asp)
|
|
|
NM_001854.4(COL11A1):c.4508C>G (p.Pro1503Arg)
|
|
|
NM_001854.4(COL11A1):c.4508C>T (p.Pro1503Leu)
|
|
|
NM_001854.4(COL11A1):c.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+17del
|
|
|
NM_001854.4(COL11A1):c.4518+1G>A
|
|
|
NM_001854.4(COL11A1):c.4518+4del
|
|
|
NM_001854.4(COL11A1):c.4518+5G>T
|
|
|
NM_001854.4(COL11A1):c.4518+8C>T
|
|
|
NM_001854.4(COL11A1):c.4519-10C>A
|
rs1252749477
|
|
NM_001854.4(COL11A1):c.4519-15A>T
|
|
|
NM_001854.4(COL11A1):c.4519-16C>T
|
|
|
NM_001854.4(COL11A1):c.4519-17G>A
|
|
|
NM_001854.4(COL11A1):c.4519-17_4519-16insTTTGAA
|
rs1472384892
|
|
NM_001854.4(COL11A1):c.4519-2A>G
|
rs2100852410
|
|
NM_001854.4(COL11A1):c.4519-8T>C
|
rs1570635708
|
|
NM_001854.4(COL11A1):c.4519-9A>G
|
rs542653794
|
|
NM_001854.4(COL11A1):c.4520G>A (p.Gly1507Asp)
|
rs1651344343
|
|
NM_001854.4(COL11A1):c.4522C>T (p.Pro1508Ser)
|
|
|
NM_001854.4(COL11A1):c.4534A>G (p.Lys1512Glu)
|
rs1651341768
|
|
NM_001854.4(COL11A1):c.4536G>A (p.Lys1512=)
|
|
|
NM_001854.4(COL11A1):c.4537G>A (p.Gly1513Ser)
|
|
|
NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp)
|
rs1553193913
|
|
NM_001854.4(COL11A1):c.4542C>A (p.Asn1514Lys)
|
|
|
NM_001854.4(COL11A1):c.4544A>G (p.Lys1515Arg)
|
|
|
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)
|
rs1553193910
|
|
NM_001854.4(COL11A1):c.4548C>G (p.Gly1516=)
|
|
|
NM_001854.4(COL11A1):c.4553C>T (p.Thr1518Ile)
|
|
|
NM_001854.4(COL11A1):c.4554+12del
|
rs1256804074
|
|
NM_001854.4(COL11A1):c.4554+1G>C
|
rs886044244
|
|
NM_001854.4(COL11A1):c.4555-16C>G
|
|
|
NM_001854.4(COL11A1):c.4555-3C>T
|
|
|
NM_001854.4(COL11A1):c.4561G>T (p.Ala1521Ser)
|
rs769920499
|
|
NM_001854.4(COL11A1):c.4562C>T (p.Ala1521Val)
|
|
|
NM_001854.4(COL11A1):c.4565G>A (p.Gly1522Asp)
|
|
|
NM_001854.4(COL11A1):c.4566C>T (p.Gly1522=)
|
|
|
NM_001854.4(COL11A1):c.456C>A (p.Pro152=)
|
rs751512442
|
|
NM_001854.4(COL11A1):c.4572A>G (p.Lys1524=)
|
|
|
NM_001854.4(COL11A1):c.4573G>A (p.Gly1525Ser)
|
|
|
NM_001854.4(COL11A1):c.457C>T (p.Leu153Phe)
|
|
|
NM_001854.4(COL11A1):c.4585C>A (p.Leu1529Ile)
|
rs2100851363
|
|
NM_001854.4(COL11A1):c.4590A>T (p.Pro1530=)
|
|
|
NM_001854.4(COL11A1):c.4592G>C (p.Gly1531Ala)
|
rs2100851333
|
|
NM_001854.4(COL11A1):c.4594C>A (p.Pro1532Thr)
|
rs140954784
|
|
NM_001854.4(COL11A1):c.4598C>G (p.Pro1533Arg)
|
|
|
NM_001854.4(COL11A1):c.4602_4603delinsCC (p.Ser1535Pro)
|
rs2100851256
|
|
NM_001854.4(COL11A1):c.4603_4604delinsCT (p.Ser1535Leu)
|
rs2100851197
|
|
NM_001854.4(COL11A1):c.4608+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.4613C>T (p.Pro1538Leu)
|
rs1474325280
|
|
NM_001854.4(COL11A1):c.4620T>C (p.Gly1540=)
|
|
|
NM_001854.4(COL11A1):c.4621G>A (p.Glu1541Lys)
|
rs2100841350
|
|
NM_001854.4(COL11A1):c.4623A>G (p.Glu1541=)
|
rs2100841333
|
|
NM_001854.4(COL11A1):c.4633C>A (p.Pro1545Thr)
|
|
|
NM_001854.4(COL11A1):c.4633C>T (p.Pro1545Ser)
|
|
|
NM_001854.4(COL11A1):c.4643T>A (p.Ile1548Asn)
|
|
|
NM_001854.4(COL11A1):c.4643T>C (p.Ile1548Thr)
|
|
|
NM_001854.4(COL11A1):c.4645T>A (p.Leu1549Met)
|
|
|
NM_001854.4(COL11A1):c.4651T>A (p.Ser1551Thr)
|
|
|
NM_001854.4(COL11A1):c.4653C>A (p.Ser1551=)
|
rs774737090
|
|
NM_001854.4(COL11A1):c.4661C>A (p.Thr1554Lys)
|
|
|
NM_001854.4(COL11A1):c.4662G>A (p.Thr1554=)
|
|
|
NM_001854.4(COL11A1):c.4662G>T (p.Thr1554=)
|
|
|
NM_001854.4(COL11A1):c.4667G>A (p.Arg1556Lys)
|
|
|
NM_001854.4(COL11A1):c.4668A>G (p.Arg1556=)
|
|
|
NM_001854.4(COL11A1):c.4692T>G (p.Asp1564Glu)
|
|
|
NM_001854.4(COL11A1):c.4693G>A (p.Ala1565Thr)
|
|
|
NM_001854.4(COL11A1):c.46G>A (p.Asp16Asn)
|
|
|
NM_001854.4(COL11A1):c.4724G>C (p.Gly1575Ala)
|
|
|
NM_001854.4(COL11A1):c.4727T>C (p.Met1576Thr)
|
|
|
NM_001854.4(COL11A1):c.4728G>T (p.Met1576Ile)
|
rs886044974
|
|
NM_001854.4(COL11A1):c.4737A>C (p.Ile1579=)
|
rs1651058219
|
|
NM_001854.4(COL11A1):c.4738T>C (p.Phe1580Leu)
|
|
|
NM_001854.4(COL11A1):c.4741G>A (p.Gly1581Ser)
|
|
|
NM_001854.4(COL11A1):c.4742G>T (p.Gly1581Val)
|
|
|
NM_001854.4(COL11A1):c.4746C>T (p.Ser1582=)
|
rs1651056020
|
|
NM_001854.4(COL11A1):c.474C>T (p.Asn158=)
|
|
|
NM_001854.4(COL11A1):c.475A>C (p.Ile159Leu)
|
|
|
NM_001854.4(COL11A1):c.4763A>G (p.Gln1588Arg)
|
rs747648407
|
|
NM_001854.4(COL11A1):c.4765G>A (p.Asp1589Asn)
|
|
|
NM_001854.4(COL11A1):c.4774C>T (p.His1592Tyr)
|
|
|
NM_001854.4(COL11A1):c.4782A>G (p.Lys1594=)
|
rs1283894129
|
|
NM_001854.4(COL11A1):c.4784T>C (p.Phe1595Ser)
|
|
|
NM_001854.4(COL11A1):c.4788A>G (p.Pro1596=)
|
rs1651047517
|
|
NM_001854.4(COL11A1):c.4789A>G (p.Met1597Val)
|
|
|
NM_001854.4(COL11A1):c.4797_4808del (p.Gln1600_Pro1603del)
|
|
|
NM_001854.4(COL11A1):c.4799A>G (p.Gln1600Arg)
|
|
|
NM_001854.4(COL11A1):c.4802C>T (p.Thr1601Ile)
|
|
|
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser)
|
rs75495145
|
|
NM_001854.4(COL11A1):c.4810G>A (p.Ala1604Thr)
|
|
|
NM_001854.4(COL11A1):c.4813C>T (p.Arg1605Ter)
|
|
|
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)
|
|
|
NM_001854.4(COL11A1):c.4814G>C (p.Arg1605Pro)
|
rs371100196
|
|
NM_001854.4(COL11A1):c.4814G>T (p.Arg1605Leu)
|
|
|
NM_001854.4(COL11A1):c.481G>C (p.Asp161His)
|
|
|
NM_001854.4(COL11A1):c.4833A>G (p.Gln1611=)
|
|
|
NM_001854.4(COL11A1):c.4834C>G (p.Leu1612Val)
|
|
|
NM_001854.4(COL11A1):c.4844C>T (p.Pro1615Leu)
|
|
|
NM_001854.4(COL11A1):c.4845T>G (p.Pro1615=)
|
|
|
NM_001854.4(COL11A1):c.4848C>A (p.Asp1616Glu)
|
rs2100839539
|
|
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg)
|
rs1672165764
|
|
NM_001854.4(COL11A1):c.4857T>C (p.Asp1619=)
|
|
|
NM_001854.4(COL11A1):c.4858+18G>A
|
|
|
NM_001854.4(COL11A1):c.4858+9A>G
|
|
|
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.4859G>A (p.Gly1620Asp)
|
|
|
NM_001854.4(COL11A1):c.4862A>C (p.Glu1621Ala)
|
|
|
NM_001854.4(COL11A1):c.4865A>G (p.Tyr1622Cys)
|
rs2101026386
|
|
NM_001854.4(COL11A1):c.4869G>T (p.Trp1623Cys)
|
|
|
NM_001854.4(COL11A1):c.4878T>C (p.Pro1626=)
|
rs1570618762
|
|
NM_001854.4(COL11A1):c.487A>G (p.Lys163Glu)
|
|
|
NM_001854.4(COL11A1):c.488+10A>G
|
|
|
NM_001854.4(COL11A1):c.488+7A>G
|
rs1571228967
|
|
NM_001854.4(COL11A1):c.4882C>T (p.Gln1628Ter)
|
|
|
NM_001854.4(COL11A1):c.4883A>C (p.Gln1628Pro)
|
|
|
NM_001854.4(COL11A1):c.4886G>T (p.Gly1629Val)
|
rs372504909
|
|
NM_001854.4(COL11A1):c.4889G>A (p.Cys1630Tyr)
|
rs983620607
|
|
NM_001854.4(COL11A1):c.489-19A>G
|
|
|
NM_001854.4(COL11A1):c.489-20G>T
|
|
|
NM_001854.4(COL11A1):c.489-3T>C
|
|
|
NM_001854.4(COL11A1):c.489-3dup
|
rs1671845303
|
|
NM_001854.4(COL11A1):c.4906A>C (p.Lys1636Gln)
|
|
|
NM_001854.4(COL11A1):c.4913A>G (p.Tyr1638Cys)
|
|
|
NM_001854.4(COL11A1):c.4927T>C (p.Ser1643Pro)
|
|
|
NM_001854.4(COL11A1):c.4931G>A (p.Gly1644Asp)
|
|
|
NM_001854.4(COL11A1):c.4951C>T (p.Pro1651Ser)
|
|
|
NM_001854.4(COL11A1):c.4955A>G (p.Asp1652Gly)
|
|
|
NM_001854.4(COL11A1):c.4956C>A (p.Asp1652Glu)
|
|
|
NM_001854.4(COL11A1):c.4962A>G (p.Lys1654=)
|
rs2101025797
|
|
NM_001854.4(COL11A1):c.4962del (p.Lys1654fs)
|
|
|
NM_001854.4(COL11A1):c.4966G>A (p.Glu1656Lys)
|
|
|
NM_001854.4(COL11A1):c.4969G>A (p.Gly1657Arg)
|
|
|
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.4972-6C>T
|
|
|
NM_001854.4(COL11A1):c.4972-7G>T
|
|
|
NM_001854.4(COL11A1):c.497G>A (p.Arg166Gln)
|
rs142753283
|
|
NM_001854.4(COL11A1):c.497G>T (p.Arg166Leu)
|
|
|
NM_001854.4(COL11A1):c.4983A>G (p.Ser1661=)
|
rs749476906
|
|
NM_001854.4(COL11A1):c.4985C>G (p.Ser1662Ter)
|
rs956233074
|
|
NM_001854.4(COL11A1):c.4986A>G (p.Ser1662=)
|
rs780298913
|
|
NM_001854.4(COL11A1):c.4986A>T (p.Ser1662=)
|
|
|
NM_001854.4(COL11A1):c.4987T>C (p.Trp1663Arg)
|
|
|
NM_001854.4(COL11A1):c.498G>C (p.Arg166=)
|
|
|
NM_001854.4(COL11A1):c.4990C>A (p.Pro1664Thr)
|
|
|
NM_001854.4(COL11A1):c.4991C>A (p.Pro1664Gln)
|
rs1650268405
|
|
NM_001854.4(COL11A1):c.4995G>T (p.Lys1665Asn)
|
|
|
NM_001854.4(COL11A1):c.5002C>T (p.Pro1668Ser)
|
|
|
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu)
|
rs541676352
|
|
NM_001854.4(COL11A1):c.5009_5013del (p.Ser1670fs)
|
rs2101017789
|
|
NM_001854.4(COL11A1):c.5013G>T (p.Trp1671Cys)
|
|
|
NM_001854.4(COL11A1):c.5019T>G (p.Ser1673Arg)
|
|
|
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)
|
|
|
NM_001854.4(COL11A1):c.5031G>A (p.Arg1677=)
|
|
|
NM_001854.4(COL11A1):c.5033G>A (p.Gly1678Glu)
|
|
|
NM_001854.4(COL11A1):c.5033dup (p.Leu1680fs)
|
|
|
NM_001854.4(COL11A1):c.5038C>T (p.Leu1680=)
|
|
|
NM_001854.4(COL11A1):c.5039T>G (p.Leu1680Arg)
|
rs2101017664
|
|
NM_001854.4(COL11A1):c.5040+10T>A
|
|
|
NM_001854.4(COL11A1):c.5040+13C>G
|
|
|
NM_001854.4(COL11A1):c.5040+17A>G
|
|
|
NM_001854.4(COL11A1):c.5040+19A>G
|
rs753508540
|
|
NM_001854.4(COL11A1):c.5040+7T>A
|
|
|
NM_001854.4(COL11A1):c.5040+8A>G
|
rs2101017606
|
|
NM_001854.4(COL11A1):c.510C>A (p.Ser170Arg)
|
|
|
NM_001854.4(COL11A1):c.513G>A (p.Val171=)
|
|
|
NM_001854.4(COL11A1):c.5156C>G (p.Ala1719Gly)
|
|
|
NM_001854.4(COL11A1):c.517A>G (p.Lys173Glu)
|
|
|
NM_001854.4(COL11A1):c.525T>G (p.Thr175=)
|
|
|
NM_001854.4(COL11A1):c.5275-16C>T
|
|
|
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.5280A>T (p.Arg1760Ser)
|
|
|
NM_001854.4(COL11A1):c.5288A>G (p.Tyr1763Cys)
|
rs1649735346
|
|
NM_001854.4(COL11A1):c.5289T>C (p.Tyr1763=)
|
|
|
NM_001854.4(COL11A1):c.5291A>G (p.Glu1764Gly)
|
|
|
NM_001854.4(COL11A1):c.5292A>G (p.Glu1764=)
|
|
|
NM_001854.4(COL11A1):c.5296A>T (p.Thr1766Ser)
|
rs1557764324
|
|
NM_001854.4(COL11A1):c.5303T>A (p.Ile1768Asn)
|
|
|
NM_001854.4(COL11A1):c.5307_5327del (p.Glu1769_Ile1775del)
|
|
|
NM_001854.4(COL11A1):c.5312A>C (p.Asn1771Thr)
|
|
|
NM_001854.4(COL11A1):c.5312A>G (p.Asn1771Ser)
|
|
|
NM_001854.4(COL11A1):c.5317C>A (p.Pro1773Thr)
|
rs750652823
|
|
NM_001854.4(COL11A1):c.5317C>T (p.Pro1773Ser)
|
rs750652823
|
|
NM_001854.4(COL11A1):c.5323A>C (p.Ile1775Leu)
|
|
|
NM_001854.4(COL11A1):c.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.532A>G (p.Met178Val)
|
|
|
NM_001854.4(COL11A1):c.5331A>C (p.Gln1777His)
|
|
|
NM_001854.4(COL11A1):c.5339T>C (p.Ile1780Thr)
|
|
|
NM_001854.4(COL11A1):c.5343T>G (p.Val1781=)
|
|
|
NM_001854.4(COL11A1):c.5355C>A (p.Ile1785=)
|
|
|
NM_001854.4(COL11A1):c.5357dup (p.Asn1786fs)
|
|
|
NM_001854.4(COL11A1):c.5360A>T (p.Asp1787Val)
|
|
|
NM_001854.4(COL11A1):c.5372_5373delinsGC (p.Gln1791Arg)
|
rs2100995563
|
|
NM_001854.4(COL11A1):c.5382G>C (p.Lys1794Asn)
|
|
|
NM_001854.4(COL11A1):c.5390T>C (p.Phe1797Ser)
|
|
|
NM_001854.4(COL11A1):c.5398G>A (p.Gly1800Ser)
|
rs958368134
|
|
NM_001854.4(COL11A1):c.5398G>T (p.Gly1800Cys)
|
|
|
NM_001854.4(COL11A1):c.539T>C (p.Val180Ala)
|
|
|
NM_001854.4(COL11A1):c.53C>A (p.Thr18Asn)
|
|
|
NM_001854.4(COL11A1):c.53C>T (p.Thr18Ile)
|
rs2102453221
|
|
NM_001854.4(COL11A1):c.5401C>T (p.Pro1801Ser)
|
|
|
NM_001854.4(COL11A1):c.5410T>C (p.Phe1804Leu)
|
rs546905537
|
|
NM_001854.4(COL11A1):c.541G>A (p.Asp181Asn)
|
|
|
NM_001854.4(COL11A1):c.5420A>G (p.Ter1807=)
|
|
|
NM_001854.4(COL11A1):c.5421A>G (p.Ter1807=)
|
|
|
NM_001854.4(COL11A1):c.547A>G (p.Lys183Glu)
|
|
|
NM_001854.4(COL11A1):c.548A>G (p.Lys183Arg)
|
rs1671839259
|
|
NM_001854.4(COL11A1):c.548A>T (p.Lys183Met)
|
|
|
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del)
|
rs774335092
|
|
NM_001854.4(COL11A1):c.551A>G (p.Lys184Arg)
|
rs2102281739
|
|
NM_001854.4(COL11A1):c.556A>G (p.Thr186Ala)
|
rs2102281711
|
|
NM_001854.4(COL11A1):c.55G>C (p.Val19Leu)
|
|
|
NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys)
|
rs184606223
|
|
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)
|
rs184606223
|
|
NM_001854.4(COL11A1):c.561G>A (p.Thr187=)
|
|
|
NM_001854.4(COL11A1):c.564A>T (p.Lys188Asn)
|
|
|
NM_001854.4(COL11A1):c.565C>A (p.Pro189Thr)
|
rs201557468
|
|
NM_001854.4(COL11A1):c.571G>C (p.Asp191His)
|
|
|
NM_001854.4(COL11A1):c.573T>A (p.Asp191Glu)
|
|
|
NM_001854.4(COL11A1):c.581A>T (p.Glu194Val)
|
rs1671835289
|
|
NM_001854.4(COL11A1):c.584G>T (p.Arg195Ile)
|
|
|
NM_001854.4(COL11A1):c.590T>C (p.Ile197Thr)
|
|
|
NM_001854.4(COL11A1):c.612G>A (p.Thr204=)
|
rs545867472
|
|
NM_001854.4(COL11A1):c.612G>T (p.Thr204=)
|
rs545867472
|
|
NM_001854.4(COL11A1):c.615T>G (p.Val205=)
|
|
|
NM_001854.4(COL11A1):c.622A>C (p.Thr208Pro)
|
|
|
NM_001854.4(COL11A1):c.625A>C (p.Arg209=)
|
|
|
NM_001854.4(COL11A1):c.626G>A (p.Arg209Lys)
|
|
|
NM_001854.4(COL11A1):c.62C>T (p.Thr21Ile)
|
|
|
NM_001854.4(COL11A1):c.645T>G (p.Val215=)
|
|
|
NM_001854.4(COL11A1):c.651+18T>G
|
|
|
NM_001854.4(COL11A1):c.651+19C>G
|
|
|
NM_001854.4(COL11A1):c.652-11_652-10insTTG
|
rs776283234
|
|
NM_001854.4(COL11A1):c.652-12T>C
|
rs766178130
|
|
NM_001854.4(COL11A1):c.652-12T>G
|
|
|
NM_001854.4(COL11A1):c.652-13_652-12insTTG
|
rs1208704403
|
|
NM_001854.4(COL11A1):c.652-14T>A
|
|
|
NM_001854.4(COL11A1):c.652-14T>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.652-17T>G
|
rs555770298
|
|
NM_001854.4(COL11A1):c.652-18T>C
|
|
|
NM_001854.4(COL11A1):c.652-18_652-16dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-19G>T
|
rs750425179
|
|
NM_001854.4(COL11A1):c.652-19_652-10del
|
|
|
NM_001854.4(COL11A1):c.652-37_652-15del
|
|
|
NM_001854.4(COL11A1):c.652-3C>G
|
|
|
NM_001854.4(COL11A1):c.652-3C>T
|
|
|
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_652-6del
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-7_652-6dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-8T>C
|
|
|
NM_001854.4(COL11A1):c.654G>T (p.Gly218=)
|
|
|
NM_001854.4(COL11A1):c.656A>G (p.Asp219Gly)
|
|
|
NM_001854.4(COL11A1):c.656A>T (p.Asp219Val)
|
|
|
NM_001854.4(COL11A1):c.666G>A (p.Gln222=)
|
|
|
NM_001854.4(COL11A1):c.66C>G (p.Leu22=)
|
rs777271909
|
|
NM_001854.4(COL11A1):c.672G>A (p.Leu224=)
|
|
|
NM_001854.4(COL11A1):c.679G>C (p.Gly227Arg)
|
|
|
NM_001854.4(COL11A1):c.67G>T (p.Ala23Ser)
|
rs1386580787
|
|
NM_001854.4(COL11A1):c.680G>A (p.Gly227Asp)
|
|
|
NM_001854.4(COL11A1):c.688A>G (p.Lys230Glu)
|
|
|
NM_001854.4(COL11A1):c.695C>T (p.Ala232Val)
|
rs2101995475
|
|
NM_001854.4(COL11A1):c.696A>T (p.Ala232=)
|
|
|
NM_001854.4(COL11A1):c.69A>T (p.Ala23=)
|
|
|
NM_001854.4(COL11A1):c.6G>A (p.Glu2=)
|
rs2102453487
|
|
NM_001854.4(COL11A1):c.700G>A (p.Asp234Asn)
|
|
|
NM_001854.4(COL11A1):c.700G>T (p.Asp234Tyr)
|
|
|
NM_001854.4(COL11A1):c.702C>G (p.Asp234Glu)
|
|
|
NM_001854.4(COL11A1):c.713A>C (p.His238Pro)
|
|
|
NM_001854.4(COL11A1):c.717T>C (p.Tyr239=)
|
|
|
NM_001854.4(COL11A1):c.721C>T (p.Pro241Ser)
|
rs1435390186
|
|
NM_001854.4(COL11A1):c.724G>T (p.Asp242Tyr)
|
|
|
NM_001854.4(COL11A1):c.726C>T (p.Asp242=)
|
|
|
NM_001854.4(COL11A1):c.729T>G (p.Cys243Trp)
|
|
|
NM_001854.4(COL11A1):c.729_730del (p.Cys243_Asp244delinsTer)
|
|
|
NM_001854.4(COL11A1):c.740C>G (p.Ala247Gly)
|
rs773180523
|
|
NM_001854.4(COL11A1):c.740C>T (p.Ala247Val)
|
|
|
NM_001854.4(COL11A1):c.742C>T (p.Pro248Ser)
|
|
|
NM_001854.4(COL11A1):c.747G>C (p.Lys249Asn)
|
|
|
NM_001854.4(COL11A1):c.75C>A (p.Thr25=)
|
|
|
NM_001854.4(COL11A1):c.763G>C (p.Glu255Gln)
|
rs768132080
|
|
NM_001854.4(COL11A1):c.768T>A (p.Pro256=)
|
|
|
NM_001854.4(COL11A1):c.773T>G (p.Ile258Arg)
|
rs2101994888
|
|
NM_001854.4(COL11A1):c.778G>A (p.Glu260Lys)
|
|
|
NM_001854.4(COL11A1):c.77T>C (p.Phe26Ser)
|
|
|
NM_001854.4(COL11A1):c.780+11C>A
|
|
|
NM_001854.4(COL11A1):c.780+13A>T
|
rs1322678821
|
|
NM_001854.4(COL11A1):c.780+19G>C
|
|
|
NM_001854.4(COL11A1):c.780+1G>T
|
|
|
NM_001854.4(COL11A1):c.781-15T>C
|
|
|
NM_001854.4(COL11A1):c.781-19T>C
|
rs1667519151
|
|
NM_001854.4(COL11A1):c.781T>C (p.Tyr261His)
|
|
|
NM_001854.4(COL11A1):c.785C>T (p.Ala262Val)
|
|
|
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr)
|
rs372319750
|
|
NM_001854.4(COL11A1):c.787C>T (p.Pro263Ser)
|
rs372319750
|
|
NM_001854.4(COL11A1):c.790G>C (p.Glu264Gln)
|
|
|
NM_001854.4(COL11A1):c.795T>C (p.Asp265=)
|
|
|
NM_001854.4(COL11A1):c.799A>G (p.Ile267Val)
|
|
|
NM_001854.4(COL11A1):c.79C>G (p.Leu27Val)
|
rs2102453014
|
|
NM_001854.4(COL11A1):c.802G>A (p.Glu268Lys)
|
|
|
NM_001854.4(COL11A1):c.802G>T (p.Glu268Ter)
|
|
|
NM_001854.4(COL11A1):c.807T>C (p.Tyr269=)
|
|
|
NM_001854.4(COL11A1):c.813T>C (p.Tyr271=)
|
rs1667511960
|
|
NM_001854.4(COL11A1):c.816G>C (p.Glu272Asp)
|
|
|
NM_001854.4(COL11A1):c.823G>A (p.Glu275Lys)
|
|
|
NM_001854.4(COL11A1):c.830_831dup (p.Tyr278fs)
|
|
|
NM_001854.4(COL11A1):c.832T>C (p.Tyr278His)
|
rs1372677796
|
|
NM_001854.4(COL11A1):c.834T>C (p.Tyr278=)
|
|
|
NM_001854.4(COL11A1):c.840G>T (p.Glu280Asp)
|
|
|
NM_001854.4(COL11A1):c.849T>A (p.Ser283Arg)
|
|
|
NM_001854.4(COL11A1):c.862C>T (p.Pro288Ser)
|
|
|
NM_001854.4(COL11A1):c.866C>T (p.Thr289Ile)
|
|
|
NM_001854.4(COL11A1):c.867T>C (p.Thr289=)
|
rs2101965992
|
|
NM_001854.4(COL11A1):c.868G>A (p.Val290Ile)
|
|
|
NM_001854.4(COL11A1):c.876G>T (p.Glu292Asp)
|
rs768795702
|
|
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.897+3A>T
|
|
|
NM_001854.4(COL11A1):c.897+5A>T
|
rs1667500095
|
|
NM_001854.4(COL11A1):c.898-17T>C
|
|
|
NM_001854.4(COL11A1):c.898-20T>A
|
rs2101961925
|
|
NM_001854.4(COL11A1):c.899C>G (p.Ala300Gly)
|
rs2101961844
|
|
NM_001854.4(COL11A1):c.906C>T (p.Ile302=)
|
|
|
NM_001854.4(COL11A1):c.913G>A (p.Asp305Asn)
|
|
|
NM_001854.4(COL11A1):c.914A>G (p.Asp305Gly)
|
|
|
NM_001854.4(COL11A1):c.915T>C (p.Asp305=)
|
|
|
NM_001854.4(COL11A1):c.923A>G (p.Glu308Gly)
|
|
|
NM_001854.4(COL11A1):c.928A>C (p.Asn310His)
|
|
|
NM_001854.4(COL11A1):c.92G>C (p.Arg31Thr)
|
|
|
NM_001854.4(COL11A1):c.93A>G (p.Arg31=)
|
|
|
NM_001854.4(COL11A1):c.940A>G (p.Met314Val)
|
|
|
NM_001854.4(COL11A1):c.951C>T (p.Tyr317=)
|
|
|
NM_001854.4(COL11A1):c.955A>G (p.Thr319Ala)
|
rs2101961446
|
|
NM_001854.4(COL11A1):c.957A>G (p.Thr319=)
|
|
|
NM_001854.4(COL11A1):c.960A>G (p.Glu320=)
|
|
|
NM_001854.4(COL11A1):c.961G>T (p.Ala321Ser)
|
|
|
NM_001854.4(COL11A1):c.971A>G (p.His324Arg)
|
|
|
NM_001854.4(COL11A1):c.982A>G (p.Thr328Ala)
|
|
|
NM_001854.4(COL11A1):c.983C>A (p.Thr328Lys)
|
rs1157354380
|
|
NM_001854.4(COL11A1):c.986A>G (p.Asn329Ser)
|
|
|
NM_001854.4(COL11A1):c.990+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+1G>T
|
|
|
NM_001854.4(COL11A1):c.990+8G>T
|
rs756299328
|
|
NM_001854.4(COL11A1):c.991-12T>C
|
rs766245051
|
|
NM_001854.4(COL11A1):c.991-14del
|
rs768258098
|
|
NM_001854.4(COL11A1):c.991-16C>T
|
|
|
NM_001854.4(COL11A1):c.991C>T (p.Pro331Ser)
|
|
|
NM_001854.4(COL11A1):c.997C>G (p.Pro333Ala)
|
|
|
NM_001854.4(COL11A1):c.999A>T (p.Pro333=)
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NM_001854.4(COL11A1):c.9G>T (p.Pro3=)
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rs1445323984
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NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC
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