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rs79473144
|
0.01304
|
NM_001854.4(COL11A1):c.4086+182C>A
|
rs74108054
|
0.01279
|
NM_001854.4(COL11A1):c.4303-312T>C
|
rs182493920
|
0.01186
|
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val)
|
rs75824519
|
0.01140
|
NM_001854.4(COL11A1):c.2097+18C>A
|
rs75124465
|
0.01139
|
NM_001854.4(COL11A1):c.2098-45C>T
|
rs114248131
|
0.01137
|
NM_001854.4(COL11A1):c.2755-58T>C
|
rs41301263
|
0.01137
|
NM_001854.4(COL11A1):c.274+145C>A
|
rs115125690
|
0.01130
|
NM_001854.4(COL11A1):c.274+45A>G
|
rs114453998
|
0.01130
|
NM_001854.4(COL11A1):c.4249-94T>G
|
rs41292527
|
0.01055
|
NM_001854.4(COL11A1):c.3169-16T>C
|
rs76379510
|
0.00976
|
NM_001854.4(COL11A1):c.3277-63T>C
|
rs140740778
|
0.00966
|
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=)
|
rs74778421
|
0.00956
|
NM_001854.4(COL11A1):c.5040+282T>C
|
rs74687046
|
0.00951
|
NM_001854.4(COL11A1):c.4302+285C>A
|
rs74316938
|
0.00947
|
NM_001854.4(COL11A1):c.3925-124C>T
|
rs146056203
|
0.00935
|
NM_001854.4(COL11A1):c.2503-239C>T
|
rs72985779
|
0.00918
|
NM_001854.4(COL11A1):c.990+69C>T
|
rs41292531
|
0.00911
|
NM_001854.4(COL11A1):c.4140+10A>T
|
rs187171126
|
0.00906
|
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala)
|
rs139064549
|
0.00897
|
NM_001854.4(COL11A1):c.3924+94A>G
|
rs138811537
|
0.00891
|
NM_001854.4(COL11A1):c.3817-270A>G
|
rs148448528
|
0.00861
|
NM_001854.4(COL11A1):c.107-206G>A
|
rs114694485
|
0.00778
|
NM_001854.4(COL11A1):c.2557-138G>A
|
rs114094014
|
0.00725
|
NM_001854.4(COL11A1):c.*1322G>A
|
rs139810625
|
0.00724
|
NM_001854.4(COL11A1):c.*632G>A
|
rs74108029
|
0.00700
|
NM_001854.4(COL11A1):c.*704T>C
|
rs74108028
|
0.00636
|
NM_001854.4(COL11A1):c.3978+146C>T
|
rs74765205
|
0.00594
|
NM_001854.4(COL11A1):c.4858+305_4858+306del
|
rs554200136
|
0.00575
|
NM_001854.4(COL11A1):c.3817-5T>C
|
rs201155391
|
0.00566
|
NM_001854.4(COL11A1):c.*1203G>A
|
rs190577885
|
0.00554
|
NM_001854.4(COL11A1):c.4303-100G>A
|
rs151074940
|
0.00527
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_001854.4(COL11A1):c.990+191C>T
|
rs190936891
|
0.00497
|
NM_001854.4(COL11A1):c.2916+27G>A
|
rs147069719
|
0.00469
|
NM_001854.4(COL11A1):c.2754+69A>G
|
rs11800347
|
0.00468
|
NM_001854.4(COL11A1):c.3276+277_3276+278insC
|
rs534159498
|
0.00432
|
NM_001854.4(COL11A1):c.651+223G>A
|
rs139319371
|
0.00407
|
NM_001854.4(COL11A1):c.2862+200G>C
|
rs111771790
|
0.00400
|
NM_001854.4(COL11A1):c.651+130C>G
|
rs189594192
|
0.00399
|
NM_001854.4(COL11A1):c.4302+219T>G
|
rs191669198
|
0.00392
|
NM_001854.4(COL11A1):c.2340+310T>C
|
rs116273668
|
0.00391
|
NM_001854.4(COL11A1):c.2394+203T>C
|
rs189297916
|
0.00391
|
NM_001854.4(COL11A1):c.4608+130A>C
|
rs116183789
|
0.00386
|
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=)
|
rs143606220
|
0.00382
|
NM_001854.4(COL11A1):c.3276+152G>T
|
rs189834282
|
0.00382
|
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)
|
rs150090939
|
0.00381
|
NM_001854.4(COL11A1):c.2917-88G>A
|
rs112756367
|
0.00346
|
NM_001854.4(COL11A1):c.3189G>A (p.Gly1063=)
|
rs75915098
|
0.00345
|
NC_000001.11:g.103108723C>T
|
rs72987897
|
0.00344
|
NM_001854.4(COL11A1):c.3979-14A>T
|
rs186245518
|
0.00338
|
NM_001854.4(COL11A1):c.2557-36G>T
|
rs2622845
|
0.00331
|
NM_001854.4(COL11A1):c.2709+48C>A
|
rs149239409
|
0.00331
|
NM_001854.4(COL11A1):c.3168+31A>G
|
rs116365261
|
0.00327
|
NM_001854.4(COL11A1):c.1999-145T>C
|
rs114036408
|
0.00304
|
NM_001854.4(COL11A1):c.3817-17_3817-16insC
|
rs773173330
|
0.00300
|
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)
|
rs55821405
|
0.00284
|
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val)
|
rs145901197
|
0.00274
|
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=)
|
rs139911745
|
0.00267
|
NM_001854.4(COL11A1):c.898-185T>C
|
rs138792819
|
0.00263
|
NM_001854.4(COL11A1):c.3873A>C (p.Gly1291=)
|
rs149367044
|
0.00257
|
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)
|
rs112577505
|
0.00251
|
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)
|
rs78046647
|
0.00233
|
NM_001854.4(COL11A1):c.2556+92T>A
|
rs550991929
|
0.00222
|
NM_001854.4(COL11A1):c.4140+13T>A
|
rs374901069
|
0.00214
|
NM_001854.4(COL11A1):c.3925-11C>T
|
rs192518657
|
0.00213
|
NM_001854.4(COL11A1):c.1246-217T>C
|
rs551276545
|
0.00191
|
NM_001854.4(COL11A1):c.3979-3T>C
|
rs138464908
|
0.00188
|
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)
|
rs114630202
|
0.00174
|
NM_001854.4(COL11A1):c.3024+13T>C
|
rs201141572
|
0.00172
|
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=)
|
rs148395062
|
0.00161
|
NM_001854.4(COL11A1):c.*17A>G
|
rs190728953
|
0.00152
|
NM_001854.4(COL11A1):c.3277-13A>C
|
rs371455495
|
0.00116
|
NM_001854.4(COL11A1):c.3925-16C>T
|
rs201491791
|
0.00099
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=)
|
rs138691968
|
0.00097
|
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=)
|
rs147247206
|
0.00096
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)
|
rs143651470
|
0.00070
|
NM_001854.4(COL11A1):c.489-7T>G
|
rs372555374
|
0.00068
|
NM_001854.4(COL11A1):c.3384+18G>A
|
rs200425985
|
0.00066
|
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)
|
rs150669855
|
0.00064
|
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)
|
rs147637674
|
0.00061
|
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=)
|
rs149526015
|
0.00039
|
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)
|
rs151249006
|
0.00039
|
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala)
|
rs144966407
|
0.00037
|
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)
|
rs149558726
|
0.00036
|
NM_001854.4(COL11A1):c.990+7C>T
|
rs137867554
|
0.00036
|
NM_001854.4(COL11A1):c.489-4T>A
|
rs371357098
|
0.00032
|
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)
|
rs143663917
|
0.00031
|
NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly)
|
rs139480042
|
0.00030
|
NM_001854.4(COL11A1):c.139T>A (p.Phe47Ile)
|
rs143159512
|
0.00030
|
NM_001854.4(COL11A1):c.1489-5C>A
|
rs370997745
|
0.00029
|
NM_001854.4(COL11A1):c.-50A>G
|
rs369810404
|
0.00026
|
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)
|
rs200496207
|
0.00026
|
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu)
|
rs143531636
|
0.00024
|
NM_001854.4(COL11A1):c.898-15T>C
|
rs200242905
|
0.00024
|
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala)
|
rs375675171
|
0.00023
|
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile)
|
rs199835797
|
0.00022
|
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser)
|
rs367824632
|
0.00021
|
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala)
|
rs140954784
|
0.00019
|
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)
|
rs143206624
|
0.00019
|
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser)
|
rs145159429
|
0.00018
|
NM_001854.4(COL11A1):c.318A>G (p.Lys106=)
|
rs150668398
|
0.00018
|
NM_001854.4(COL11A1):c.1246-6C>T
|
rs199855455
|
0.00016
|
NM_001854.4(COL11A1):c.3115-12C>T
|
rs1009682657
|
0.00015
|
NM_001854.4(COL11A1):c.4032+18T>C
|
rs190625412
|
0.00015
|
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala)
|
rs55851925
|
0.00014
|
NM_001854.4(COL11A1):c.1630-13T>C
|
rs370547604
|
0.00014
|
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=)
|
rs141432979
|
0.00014
|
NM_001854.4(COL11A1):c.4270G>C (p.Ala1424Pro)
|
rs371230505
|
0.00014
|
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly)
|
rs199539580
|
0.00014
|
NM_001854.4(COL11A1):c.946A>G (p.Ser316Gly)
|
rs369794634
|
0.00014
|
NM_001854.4(COL11A1):c.3492+3G>A
|
rs372941709
|
0.00013
|
NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro)
|
rs370534700
|
0.00013
|
NM_001854.4(COL11A1):c.882A>G (p.Thr294=)
|
rs201141662
|
0.00013
|
NM_001854.4(COL11A1):c.1504G>T (p.Asp502Tyr)
|
rs1212773301
|
0.00012
|
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)
|
rs369925361
|
0.00012
|
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser)
|
rs201849355
|
0.00011
|
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln)
|
rs142523692
|
0.00011
|
NM_001854.4(COL11A1):c.3438+11T>C
|
rs765352070
|
0.00011
|
NM_001854.4(COL11A1):c.4200T>C (p.Pro1400=)
|
rs370559180
|
0.00011
|
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=)
|
rs369265343
|
0.00011
|
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)
|
rs140608161
|
0.00010
|
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=)
|
rs141770006
|
0.00009
|
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)
|
rs192842970
|
0.00009
|
NM_001854.4(COL11A1):c.4087-4A>G
|
rs137999403
|
0.00009
|
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met)
|
rs759287748
|
0.00009
|
NM_001854.4(COL11A1):c.1032G>A (p.Thr344=)
|
rs367998577
|
0.00008
|
NM_001854.4(COL11A1):c.1690C>G (p.Arg564Gly)
|
rs776268452
|
0.00008
|
NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr)
|
rs377044024
|
0.00008
|
NM_001854.4(COL11A1):c.4033-12C>T
|
rs745961028
|
0.00008
|
NM_001854.4(COL11A1):c.456C>T (p.Pro152=)
|
rs751512442
|
0.00008
|
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)
|
rs558265763
|
0.00008
|
NM_001854.4(COL11A1):c.*9C>G
|
rs371551881
|
0.00007
|
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys)
|
rs372387693
|
0.00007
|
NM_001854.4(COL11A1):c.1853G>A (p.Arg618Gln)
|
rs192313594
|
0.00007
|
NM_001854.4(COL11A1):c.2150A>G (p.Gln717Arg)
|
rs142524348
|
0.00007
|
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr)
|
rs144562769
|
0.00007
|
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser)
|
rs199952288
|
0.00007
|
NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn)
|
rs572826781
|
0.00006
|
NM_001854.4(COL11A1):c.1244G>A (p.Ser415Asn)
|
rs777310574
|
0.00006
|
NM_001854.4(COL11A1):c.1684-7G>C
|
rs201494436
|
0.00006
|
NM_001854.4(COL11A1):c.1899+3A>G
|
rs374676938
|
0.00006
|
NM_001854.4(COL11A1):c.2246C>T (p.Pro749Leu)
|
rs776773238
|
0.00006
|
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg)
|
rs760387652
|
0.00006
|
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser)
|
rs370589018
|
0.00006
|
NM_001854.4(COL11A1):c.3600+8G>A
|
rs188045535
|
0.00006
|
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=)
|
rs767276283
|
0.00006
|
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)
|
rs775587076
|
0.00006
|
NM_001854.4(COL11A1):c.4328A>C (p.Lys1443Thr)
|
rs769350133
|
0.00006
|
NM_001854.4(COL11A1):c.4586T>C (p.Leu1529Pro)
|
rs578137786
|
0.00006
|
NM_001854.4(COL11A1):c.1245+1G>A
|
rs766849561
|
0.00005
|
NM_001854.4(COL11A1):c.1683+20C>G
|
rs373143275
|
0.00005
|
NM_001854.4(COL11A1):c.4177G>A (p.Gly1393Ser)
|
rs767950147
|
0.00005
|
NM_001854.4(COL11A1):c.1320C>T (p.Val440=)
|
rs201585594
|
0.00004
|
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)
|
rs752749747
|
0.00004
|
NM_001854.4(COL11A1):c.1444G>A (p.Ala482Thr)
|
rs150428394
|
0.00004
|
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met)
|
rs770162224
|
0.00004
|
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu)
|
rs534777436
|
0.00004
|
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)
|
rs142506188
|
0.00004
|
NM_001854.4(COL11A1):c.2241+6T>C
|
rs374197371
|
0.00004
|
NM_001854.4(COL11A1):c.2295+5C>T
|
rs369103119
|
0.00004
|
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn)
|
rs762668220
|
0.00004
|
NM_001854.4(COL11A1):c.2610+18G>A
|
rs750906344
|
0.00004
|
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)
|
rs749003514
|
0.00004
|
NM_001854.4(COL11A1):c.275-14C>T
|
rs370321983
|
0.00004
|
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
|
rs1283924469
|
0.00004
|
NM_001854.4(COL11A1):c.2916+3A>G
|
rs200515572
|
0.00004
|
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His)
|
rs148464130
|
0.00004
|
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val)
|
rs138507620
|
0.00004
|
NM_001854.4(COL11A1):c.4141-8T>A
|
rs373760183
|
0.00004
|
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)
|
rs558548172
|
0.00004
|
NM_001854.4(COL11A1):c.4656A>G (p.Lys1552=)
|
rs769593192
|
0.00004
|
NM_001854.4(COL11A1):c.784G>A (p.Ala262Thr)
|
rs777664906
|
0.00004
|
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu)
|
rs945959591
|
0.00004
|
NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr)
|
rs779346604
|
0.00004
|
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn)
|
rs199942159
|
0.00003
|
NM_001854.4(COL11A1):c.1043A>T (p.Tyr348Phe)
|
rs539811607
|
0.00003
|
NM_001854.4(COL11A1):c.1147T>A (p.Phe383Ile)
|
rs368746938
|
0.00003
|
NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser)
|
rs1156500992
|
0.00003
|
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=)
|
rs371490794
|
0.00003
|
NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val)
|
rs775644641
|
0.00003
|
NM_001854.4(COL11A1):c.1426C>T (p.Arg476Cys)
|
rs756352775
|
0.00003
|
NM_001854.4(COL11A1):c.1488G>A (p.Pro496=)
|
rs772310071
|
0.00003
|
NM_001854.4(COL11A1):c.1998+11C>T
|
rs375664445
|
0.00003
|
NM_001854.4(COL11A1):c.2754+50A>C
|
rs202051513
|
0.00003
|
NM_001854.4(COL11A1):c.2925C>T (p.Thr975=)
|
rs369136682
|
0.00003
|
NM_001854.4(COL11A1):c.3344C>T (p.Pro1115Leu)
|
rs958678153
|
0.00003
|
NM_001854.4(COL11A1):c.35G>A (p.Arg12Gln)
|
rs767496065
|
0.00003
|
NM_001854.4(COL11A1):c.3652A>G (p.Met1218Val)
|
rs951017335
|
0.00003
|
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu)
|
rs750838060
|
0.00003
|
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser)
|
rs370988085
|
0.00003
|
NM_001854.4(COL11A1):c.4032+5G>A
|
rs770333147
|
0.00003
|
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg)
|
rs986400534
|
0.00003
|
NM_001854.4(COL11A1):c.426C>T (p.His142=)
|
rs561435432
|
0.00003
|
NM_001854.4(COL11A1):c.4561G>A (p.Ala1521Thr)
|
rs769920499
|
0.00003
|
NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=)
|
rs770392400
|
0.00003
|
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)
|
rs141304474
|
0.00003
|
NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met)
|
rs544289862
|
0.00002
|
NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys)
|
rs761451204
|
0.00002
|
NM_001854.4(COL11A1):c.1309-7G>A
|
rs748684225
|
0.00002
|
NM_001854.4(COL11A1):c.1654A>G (p.Lys552Glu)
|
rs1377225041
|
0.00002
|
NM_001854.4(COL11A1):c.194A>G (p.Lys65Arg)
|
rs200396868
|
0.00002
|
NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser)
|
rs375314757
|
0.00002
|
NM_001854.4(COL11A1):c.2241+3A>G
|
rs759793105
|
0.00002
|
NM_001854.4(COL11A1):c.2276C>T (p.Pro759Leu)
|
rs749290763
|
0.00002
|
NM_001854.4(COL11A1):c.2520A>G (p.Pro840=)
|
rs942911563
|
0.00002
|
NM_001854.4(COL11A1):c.2722G>A (p.Gly908Ser)
|
rs758953085
|
0.00002
|
NM_001854.4(COL11A1):c.3025-6C>T
|
rs780046337
|
0.00002
|
NM_001854.4(COL11A1):c.3361T>G (p.Ser1121Ala)
|
rs778937772
|
0.00002
|
NM_001854.4(COL11A1):c.3493-5T>G
|
rs746535602
|
0.00002
|
NM_001854.4(COL11A1):c.3706G>A (p.Asp1236Asn)
|
rs140292959
|
0.00002
|
NM_001854.4(COL11A1):c.4233C>T (p.Gly1411=)
|
rs139726483
|
0.00002
|
NM_001854.4(COL11A1):c.4249G>A (p.Gly1417Arg)
|
rs752921387
|
0.00002
|
NM_001854.4(COL11A1):c.4672A>G (p.Thr1558Ala)
|
rs144404767
|
0.00002
|
NM_001854.4(COL11A1):c.4710T>C (p.Leu1570=)
|
rs1362430090
|
0.00002
|
NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=)
|
rs3753842
|
0.00002
|
NM_001854.4(COL11A1):c.475A>G (p.Ile159Val)
|
rs774693614
|
0.00002
|
NM_001854.4(COL11A1):c.4761A>G (p.Lys1587=)
|
rs375667862
|
0.00002
|
NM_001854.4(COL11A1):c.483C>T (p.Asp161=)
|
rs557000127
|
0.00002
|
NM_001854.4(COL11A1):c.898-272A>C
|
rs148225616
|
0.00002
|
NM_001854.4(COL11A1):c.898-285G>C
|
rs370745781
|
0.00002
|
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter)
|
rs776004614
|
0.00001
|
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg)
|
rs751155680
|
0.00001
|
NM_001854.4(COL11A1):c.1054A>T (p.Arg352Trp)
|
rs1402379236
|
0.00001
|
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=)
|
rs762727530
|
0.00001
|
NM_001854.4(COL11A1):c.1099G>A (p.Gly367Ser)
|
rs748391176
|
0.00001
|
NM_001854.4(COL11A1):c.1100G>A (p.Gly367Asp)
|
rs1402186540
|
0.00001
|
NM_001854.4(COL11A1):c.1129G>T (p.Asp377Tyr)
|
rs376421641
|
0.00001
|
NM_001854.4(COL11A1):c.1211G>A (p.Gly404Asp)
|
rs748335883
|
0.00001
|
NM_001854.4(COL11A1):c.1321G>A (p.Glu441Lys)
|
rs995254814
|
0.00001
|
NM_001854.4(COL11A1):c.1413+6T>C
|
rs1337013861
|
0.00001
|
NM_001854.4(COL11A1):c.1493G>A (p.Arg498His)
|
rs545363972
|
0.00001
|
NM_001854.4(COL11A1):c.1624C>T (p.Pro542Ser)
|
rs745841296
|
0.00001
|
NM_001854.4(COL11A1):c.1708C>T (p.Pro570Ser)
|
rs1194226000
|
0.00001
|
NM_001854.4(COL11A1):c.1744C>T (p.Pro582Ser)
|
rs746192125
|
0.00001
|
NM_001854.4(COL11A1):c.1776A>T (p.Gly592=)
|
rs1211057639
|
0.00001
|
NM_001854.4(COL11A1):c.1859C>T (p.Pro620Leu)
|
rs777479105
|
0.00001
|
NM_001854.4(COL11A1):c.1899+16T>G
|
rs767808576
|
0.00001
|
NM_001854.4(COL11A1):c.191G>A (p.Arg64Lys)
|
rs1272896075
|
0.00001
|
NM_001854.4(COL11A1):c.2058G>T (p.Glu686Asp)
|
rs369536049
|
0.00001
|
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=)
|
rs544663655
|
0.00001
|
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)
|
rs56230601
|
0.00001
|
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu)
|
rs754657948
|
0.00001
|
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg)
|
rs775660447
|
0.00001
|
NM_001854.4(COL11A1):c.2266A>G (p.Ile756Val)
|
rs1190680048
|
0.00001
|
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)
|
rs372419698
|
0.00001
|
NM_001854.4(COL11A1):c.2556+14A>G
|
rs1365339245
|
0.00001
|
NM_001854.4(COL11A1):c.2557-11T>C
|
rs772339745
|
0.00001
|
NM_001854.4(COL11A1):c.2557-14T>C
|
rs546175264
|
0.00001
|
NM_001854.4(COL11A1):c.2645G>A (p.Arg882His)
|
rs779869745
|
0.00001
|
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn)
|
rs779028602
|
0.00001
|
NM_001854.4(COL11A1):c.275G>T (p.Gly92Val)
|
rs1372284079
|
0.00001
|
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His)
|
rs368422725
|
0.00001
|
NM_001854.4(COL11A1):c.2808+14C>G
|
rs1015791965
|
0.00001
|
NM_001854.4(COL11A1):c.2926G>A (p.Gly976Ser)
|
rs763187998
|
0.00001
|
NM_001854.4(COL11A1):c.2951G>A (p.Arg984His)
|
rs147271219
|
0.00001
|
NM_001854.4(COL11A1):c.3044G>T (p.Gly1015Val)
|
rs1343845258
|
0.00001
|
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)
|
rs1040168773
|
0.00001
|
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys)
|
rs377320274
|
0.00001
|
NM_001854.4(COL11A1):c.3077G>A (p.Arg1026His)
|
rs944650989
|
0.00001
|
NM_001854.4(COL11A1):c.3137G>A (p.Gly1046Glu)
|
rs773157346
|
0.00001
|
NM_001854.4(COL11A1):c.3185G>A (p.Arg1062His)
|
rs1234848212
|
0.00001
|
NM_001854.4(COL11A1):c.3397G>C (p.Glu1133Gln)
|
rs757517185
|
0.00001
|
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu)
|
rs764478054
|
0.00001
|
NM_001854.4(COL11A1):c.3402G>A (p.Pro1134=)
|
rs763588142
|
0.00001
|
NM_001854.4(COL11A1):c.350C>G (p.Ser117Cys)
|
rs143396707
|
0.00001
|
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu)
|
rs753649097
|
0.00001
|
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser)
|
rs778311240
|
0.00001
|
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp)
|
rs780739712
|
0.00001
|
NM_001854.4(COL11A1):c.3869C>G (p.Ala1290Gly)
|
rs199555214
|
0.00001
|
NM_001854.4(COL11A1):c.3982C>A (p.Gln1328Lys)
|
rs750014974
|
0.00001
|
NM_001854.4(COL11A1):c.4031C>T (p.Pro1344Leu)
|
rs528959090
|
0.00001
|
NM_001854.4(COL11A1):c.4033-10C>T
|
rs763204252
|
0.00001
|
NM_001854.4(COL11A1):c.4363C>T (p.Pro1455Ser)
|
rs184965786
|
0.00001
|
NM_001854.4(COL11A1):c.437C>T (p.Pro146Leu)
|
rs543199135
|
0.00001
|
NM_001854.4(COL11A1):c.4411G>A (p.Gly1471Ser)
|
rs1057522949
|
0.00001
|
NM_001854.4(COL11A1):c.4439G>T (p.Gly1480Val)
|
rs759091446
|
0.00001
|
NM_001854.4(COL11A1):c.4452A>G (p.Ala1484=)
|
rs1289745561
|
0.00001
|
NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro)
|
rs1057521422
|
0.00001
|
NM_001854.4(COL11A1):c.4545A>G (p.Lys1515=)
|
rs575231157
|
0.00001
|
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg)
|
rs146997967
|
0.00001
|
NM_001854.4(COL11A1):c.4615C>T (p.Pro1539Ser)
|
rs1374575593
|
0.00001
|
NM_001854.4(COL11A1):c.4618G>A (p.Gly1540Ser)
|
rs933062306
|
0.00001
|
NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=)
|
rs202048103
|
0.00001
|
NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr)
|
rs780611200
|
0.00001
|
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly)
|
rs756511227
|
0.00001
|
NM_001854.4(COL11A1):c.4711G>T (p.Asp1571Tyr)
|
rs1277867710
|
0.00001
|
NM_001854.4(COL11A1):c.4717T>C (p.Ser1573Pro)
|
rs865904271
|
0.00001
|
NM_001854.4(COL11A1):c.477C>T (p.Ile159=)
|
rs769155547
|
0.00001
|
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr)
|
rs146954848
|
0.00001
|
NM_001854.4(COL11A1):c.4792G>A (p.Gly1598Ser)
|
rs757388014
|
0.00001
|
NM_001854.4(COL11A1):c.4859-19A>G
|
rs146179957
|
0.00001
|
NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp)
|
rs780211105
|
0.00001
|
NM_001854.4(COL11A1):c.502G>A (p.Ala168Thr)
|
rs150144437
|
0.00001
|
NM_001854.4(COL11A1):c.511G>A (p.Val171Met)
|
rs751182532
|
0.00001
|
NM_001854.4(COL11A1):c.534G>C (p.Met178Ile)
|
rs758827956
|
0.00001
|
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg)
|
rs925433052
|
0.00001
|
NM_001854.4(COL11A1):c.777T>C (p.Asp259=)
|
rs1010215837
|
0.00001
|
NM_001854.4(COL11A1):c.782A>G (p.Tyr261Cys)
|
rs1204523782
|
0.00001
|
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr)
|
rs748315186
|
0.00001
|
NM_001854.4(COL11A1):c.898-195G>A
|
rs774299581
|
0.00001
|
NM_001854.4(COL11A1):c.898-217A>C
|
rs763456639
|
0.00001
|
NM_001854.4(COL11A1):c.898-263C>T
|
rs559331475
|
0.00001
|
NM_001854.4(COL11A1):c.898-276A>C
|
rs779058882
|
0.00001
|
NM_001854.4(COL11A1):c.973G>T (p.Val325Phe)
|
rs746633493
|
0.00001
|
NM_001854.4(COL11A1):c.990+11T>G
|
rs750665036
|
0.00001
|
GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1
|
|
|
NM_001854.4(COL11A1):c.106+98_106+99dup
|
rs573192714
|
|
NM_001854.4(COL11A1):c.106+98dup
|
rs573192714
|
|
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro)
|
rs141036911
|
|
NM_001854.4(COL11A1):c.107-27G>T
|
rs116458923
|
|
NM_001854.4(COL11A1):c.107-294CA[11]
|
rs76992260
|
|
NM_001854.4(COL11A1):c.107-294CA[12]
|
rs76992260
|
|
NM_001854.4(COL11A1):c.107-295_107-294del
|
rs1491159319
|
|
NM_001854.4(COL11A1):c.1081G>A (p.Glu361Lys)
|
|
|
NM_001854.4(COL11A1):c.1155A>C (p.Glu385Asp)
|
rs1057524404
|
|
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer)
|
rs1343199316
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.121G>A (p.Val41Ile)
|
|
|
NM_001854.4(COL11A1):c.1232T>C (p.Ile411Thr)
|
|
|
NM_001854.4(COL11A1):c.1245C>A (p.Ser415Arg)
|
rs371490794
|
|
NM_001854.4(COL11A1):c.1246-258_1246-253dup
|
rs11381607
|
|
NM_001854.4(COL11A1):c.1246-258_1246-254dup
|
rs11381607
|
|
NM_001854.4(COL11A1):c.1246-258_1246-255dup
|
rs11381607
|
|
NM_001854.4(COL11A1):c.1246-258_1246-256dup
|
rs11381607
|
|
NM_001854.4(COL11A1):c.1246-258_1246-257dup
|
rs11381607
|
|
NM_001854.4(COL11A1):c.1246-258dup
|
rs11381607
|
|
NM_001854.4(COL11A1):c.1246-70del
|
rs35291481
|
|
NM_001854.4(COL11A1):c.1246-9A>C
|
rs375455188
|
|
NM_001854.4(COL11A1):c.1246A>G (p.Ile416Val)
|
rs1667095674
|
|
NM_001854.4(COL11A1):c.1258G>A (p.Gly420Ser)
|
rs2101938369
|
|
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=)
|
rs760330151
|
|
NM_001854.4(COL11A1):c.1308+20C>A
|
rs750685039
|
|
NM_001854.4(COL11A1):c.1324G>A (p.Gly442Arg)
|
|
|
NM_001854.4(COL11A1):c.1350+1G>A
|
rs2101919778
|
|
NM_001854.4(COL11A1):c.1351-169del
|
rs141009352
|
|
NM_001854.4(COL11A1):c.1360G>T (p.Gly454Cys)
|
rs2101915053
|
|
NM_001854.4(COL11A1):c.1418C>T (p.Pro473Leu)
|
|
|
NM_001854.4(COL11A1):c.1421C>T (p.Pro474Leu)
|
rs2101905008
|
|
NM_001854.4(COL11A1):c.1426C>A (p.Arg476Ser)
|
rs756352775
|
|
NM_001854.4(COL11A1):c.1491C>G (p.Phe497Leu)
|
rs755704308
|
|
NM_001854.4(COL11A1):c.1550A>C (p.Gln517Pro)
|
rs2101899405
|
|
NM_001854.4(COL11A1):c.1570C>T (p.Arg524Trp)
|
|
|
NM_001854.4(COL11A1):c.1573-15T>C
|
rs772291375
|
|
NM_001854.4(COL11A1):c.1573-204_1573-203del
|
rs557530220
|
|
NM_001854.4(COL11A1):c.1629+137dup
|
rs35117641
|
|
NM_001854.4(COL11A1):c.162del (p.Ser55fs)
|
rs1571238944
|
|
NM_001854.4(COL11A1):c.1630-2del
|
rs1057517989
|
|
NM_001854.4(COL11A1):c.1635G>A (p.Gly545=)
|
rs746478999
|
|
NM_001854.4(COL11A1):c.1657G>T (p.Gly553Cys)
|
rs2101869508
|
|
NM_001854.4(COL11A1):c.1678C>G (p.Pro560Ala)
|
|
|
NM_001854.4(COL11A1):c.1683+3A>G
|
rs2101869327
|
|
NM_001854.4(COL11A1):c.1683+84dup
|
rs79750249
|
|
NM_001854.4(COL11A1):c.1683G>T (p.Gln561His)
|
rs2101869336
|
|
NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp)
|
rs886039743
|
|
NM_001854.4(COL11A1):c.1688C>A (p.Pro563His)
|
rs2101854756
|
|
NM_001854.4(COL11A1):c.1688C>T (p.Pro563Leu)
|
rs2101854756
|
|
NM_001854.4(COL11A1):c.168AAC[1] (p.Thr58del)
|
rs1553253791
|
|
NM_001854.4(COL11A1):c.1718C>T (p.Thr573Met)
|
rs202011565
|
|
NM_001854.4(COL11A1):c.1737+56ATTT[10]
|
rs59259783
|
|
NM_001854.4(COL11A1):c.1737+56ATTT[11]
|
rs59259783
|
|
NM_001854.4(COL11A1):c.1737+56ATTT[5]
|
rs59259783
|
|
NM_001854.4(COL11A1):c.1737+56ATTT[8]
|
rs59259783
|
|
NM_001854.4(COL11A1):c.1737+56ATTT[9]
|
rs59259783
|
|
NM_001854.4(COL11A1):c.1739G>A (p.Gly580Asp)
|
|
|
NM_001854.4(COL11A1):c.1745C>T (p.Pro582Leu)
|
|
|
NM_001854.4(COL11A1):c.1778A>C (p.Glu593Ala)
|
|
|
NM_001854.4(COL11A1):c.1792-10_1792-8del
|
rs2101851346
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[8]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[9]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1845+3A>T
|
rs2101850931
|
|
NM_001854.4(COL11A1):c.1846-258_1846-255del
|
rs147077472
|
|
NM_001854.4(COL11A1):c.1894A>G (p.Met632Val)
|
rs2101843713
|
|
NM_001854.4(COL11A1):c.1900G>A (p.Gly634Arg)
|
rs2101842703
|
|
NM_001854.4(COL11A1):c.1913A>T (p.Glu638Val)
|
|
|
NM_001854.4(COL11A1):c.1945-19C>T
|
rs1571000550
|
|
NM_001854.4(COL11A1):c.1945-296G>T
|
rs116296541
|
|
NM_001854.4(COL11A1):c.1945-33_1945-32del
|
rs370445089
|
|
NM_001854.4(COL11A1):c.1945-43dup
|
rs370445089
|
|
NM_001854.4(COL11A1):c.1945-7C>A
|
rs201424786
|
|
NM_001854.4(COL11A1):c.194_197del (p.Lys65fs)
|
rs2102324115
|
|
NM_001854.4(COL11A1):c.1961T>C (p.Leu654Pro)
|
rs1131691449
|
|
NM_001854.4(COL11A1):c.1998+4_1998+5delinsAT
|
rs2101835613
|
|
NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr)
|
rs767790003
|
|
NM_001854.4(COL11A1):c.2009G>C (p.Gly670Ala)
|
rs2101833015
|
|
NM_001854.4(COL11A1):c.2011G>T (p.Val671Leu)
|
rs201602988
|
|
NM_001854.4(COL11A1):c.2024C>T (p.Pro675Leu)
|
rs2101832656
|
|
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=)
|
rs530187653
|
|
NM_001854.4(COL11A1):c.2098-4A>G
|
rs759906097
|
|
NM_001854.4(COL11A1):c.2143-263del
|
rs71592254
|
|
NM_001854.4(COL11A1):c.2197-10C>T
|
rs1057521170
|
|
NM_001854.4(COL11A1):c.2241+5G>C
|
rs2101800665
|
|
NM_001854.4(COL11A1):c.2241+5G>T
|
rs2101800665
|
|
NM_001854.4(COL11A1):c.2284C>G (p.Arg762Gly)
|
|
|
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)
|
rs758825857
|
|
NM_001854.4(COL11A1):c.2296-19C>T
|
rs776330050
|
|
NM_001854.4(COL11A1):c.2340+245dup
|
rs202223220
|
|
NM_001854.4(COL11A1):c.2340+257del
|
rs202223220
|
|
NM_001854.4(COL11A1):c.2340+9_2340+13del
|
rs374301870
|
|
NM_001854.4(COL11A1):c.2386G>T (p.Gly796Cys)
|
rs2101750154
|
|
NM_001854.4(COL11A1):c.2394+206T>C
|
rs113281880
|
|
NM_001854.4(COL11A1):c.2462C>G (p.Pro821Arg)
|
rs2101738235
|
|
NM_001854.4(COL11A1):c.2470G>A (p.Asp824Asn)
|
rs1064796668
|
|
NM_001854.4(COL11A1):c.2485_2486insAAG (p.Ser828_Gly829insGlu)
|
rs1553227204
|
|
NM_001854.4(COL11A1):c.2502+250dup
|
rs34440236
|
|
NM_001854.4(COL11A1):c.2502+271G>A
|
rs115389602
|
|
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val)
|
rs1663311706
|
|
NM_001854.4(COL11A1):c.2551C>T (p.Pro851Ser)
|
|
|
NM_001854.4(COL11A1):c.2556+135_2556+136del
|
rs146402276
|
|
NM_001854.4(COL11A1):c.2556+332A>G
|
rs150296583
|
|
NM_001854.4(COL11A1):c.2557-8T>C
|
rs572637910
|
|
NM_001854.4(COL11A1):c.2611-106ATGA[6]
|
rs148099821
|
|
NM_001854.4(COL11A1):c.2638G>A (p.Gly880Ser)
|
|
|
NM_001854.4(COL11A1):c.2656-4G>T
|
rs1553224423
|
|
NM_001854.4(COL11A1):c.2662C>T (p.Arg888Ter)
|
rs748815162
|
|
NM_001854.4(COL11A1):c.268T>A (p.Phe90Ile)
|
|
|
NM_001854.4(COL11A1):c.2724C>T (p.Gly908=)
|
rs201972285
|
|
NM_001854.4(COL11A1):c.272C>G (p.Pro91Arg)
|
rs1672517531
|
|
NM_001854.4(COL11A1):c.2739C>T (p.Gly913=)
|
rs1553224335
|
|
NM_001854.4(COL11A1):c.274+194_274+198del
|
rs141045560
|
|
NM_001854.4(COL11A1):c.274+5A>G
|
rs1571238473
|
|
NM_001854.4(COL11A1):c.2754+5G>A
|
rs1057518666
|
|
NM_001854.4(COL11A1):c.2755-2A>G
|
rs2101653580
|
|
NM_001854.4(COL11A1):c.2764G>A (p.Gly922Arg)
|
rs2101653447
|
|
NM_001854.4(COL11A1):c.2768C>T (p.Pro923Leu)
|
rs375398395
|
|
NM_001854.4(COL11A1):c.2808+1G>A
|
rs1553223152
|
|
NM_001854.4(COL11A1):c.2809-43_2809-40del
|
rs143935916
|
|
NM_001854.4(COL11A1):c.2862+151TA[6]
|
rs10639471
|
|
NM_001854.4(COL11A1):c.2921C>G (p.Pro974Arg)
|
rs78046647
|
|
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=)
|
rs368868551
|
|
NM_001854.4(COL11A1):c.2983G>A (p.Glu995Lys)
|
rs1661034735
|
|
NM_001854.4(COL11A1):c.3008G>C (p.Gly1003Ala)
|
|
|
NM_001854.4(COL11A1):c.3019G>A (p.Ala1007Thr)
|
|
|
NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=)
|
|
|
NM_001854.4(COL11A1):c.3168+1G>T
|
rs886042653
|
|
NM_001854.4(COL11A1):c.3168+9G>A
|
rs1553218164
|
|
NM_001854.4(COL11A1):c.3169-13T>C
|
rs182777459
|
|
NM_001854.4(COL11A1):c.3169-278_3169-277del
|
rs146566120
|
|
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)
|
|
|
NM_001854.4(COL11A1):c.3185G>T (p.Arg1062Leu)
|
|
|
NM_001854.4(COL11A1):c.31A>G (p.Lys11Glu)
|
|
|
NM_001854.4(COL11A1):c.3219A>G (p.Leu1073=)
|
rs759784635
|
|
NM_001854.4(COL11A1):c.3226C>T (p.Arg1076Cys)
|
rs1659348330
|
|
NM_001854.4(COL11A1):c.3251G>A (p.Gly1084Asp)
|
|
|
NM_001854.4(COL11A1):c.3276+277del
|
rs199950003
|
|
NM_001854.4(COL11A1):c.3276+327G>A
|
rs115664081
|
|
NM_001854.4(COL11A1):c.3276+334C>A
|
rs111390713
|
|
NM_001854.4(COL11A1):c.3276+5G>A
|
rs2101406246
|
|
NM_001854.4(COL11A1):c.3294A>G (p.Gln1098=)
|
rs1553210866
|
|
NM_001854.4(COL11A1):c.3312T>A (p.Asp1104Glu)
|
|
|
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=)
|
rs17127270
|
|
NM_001854.4(COL11A1):c.3394G>A (p.Gly1132Ser)
|
|
|
NM_001854.4(COL11A1):c.3429G>C (p.Lys1143Asn)
|
|
|
NM_001854.4(COL11A1):c.3438+5G>A
|
|
|
NM_001854.4(COL11A1):c.3492+202_3492+205del
|
rs138714814
|
|
NM_001854.4(COL11A1):c.3495A>G (p.Gly1165=)
|
rs1553208812
|
|
NM_001854.4(COL11A1):c.352A>G (p.Ile118Val)
|
|
|
NM_001854.4(COL11A1):c.3580C>T (p.Pro1194Ser)
|
|
|
NM_001854.4(COL11A1):c.3600+81dup
|
rs113900968
|
|
NM_001854.4(COL11A1):c.3600+87del
|
rs113900968
|
|
NM_001854.4(COL11A1):c.3601-219A>C
|
rs7553464
|
|
NM_001854.4(COL11A1):c.3601-303G>T
|
rs7539682
|
|
NM_001854.4(COL11A1):c.3601-46del
|
rs147848946
|
|
NM_001854.4(COL11A1):c.3654+91_3654+92del
|
rs34112708
|
|
NM_001854.4(COL11A1):c.3655-2A>G
|
|
|
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)
|
rs750291363
|
|
NM_001854.4(COL11A1):c.3708+2T>C
|
rs2101074452
|
|
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs)
|
rs2101066868
|
|
NM_001854.4(COL11A1):c.3748G>A (p.Gly1250Ser)
|
rs2101066582
|
|
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=)
|
rs144729226
|
|
NM_001854.4(COL11A1):c.3816+190C>G
|
rs114612888
|
|
NM_001854.4(COL11A1):c.3816+1G>A
|
rs398122828
|
|
NM_001854.4(COL11A1):c.3816+1G>C
|
rs398122828
|
|
NM_001854.4(COL11A1):c.3816+291_3816+294del
|
rs3056626
|
|
NM_001854.4(COL11A1):c.3816+2dup
|
rs1469787406
|
|
NM_001854.4(COL11A1):c.3816+5G>A
|
rs1057524237
|
|
NM_001854.4(COL11A1):c.3816+94G>A
|
rs74108056
|
|
NM_001854.4(COL11A1):c.3817-13del
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3817-14_3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3889G>A (p.Gly1297Arg)
|
|
|
NM_001854.4(COL11A1):c.3925-10G>T
|
rs773007335
|
|
NM_001854.4(COL11A1):c.3950C>G (p.Pro1317Arg)
|
rs147993467
|
|
NM_001854.4(COL11A1):c.3978+71dup
|
rs145342760
|
|
NM_001854.4(COL11A1):c.3979-10C>T
|
rs1553200898
|
|
NM_001854.4(COL11A1):c.4028A>C (p.Gln1343Pro)
|
|
|
NM_001854.4(COL11A1):c.4032+116del
|
rs148757066
|
|
NM_001854.4(COL11A1):c.4056G>T (p.Glu1352Asp)
|
|
|
NM_001854.4(COL11A1):c.4072C>T (p.Pro1358Ser)
|
rs2101016676
|
|
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)
|
rs755987732
|
|
NM_001854.4(COL11A1):c.4087-145C>T
|
rs1676499
|
|
NM_001854.4(COL11A1):c.4091C>T (p.Pro1364Leu)
|
|
|
NM_001854.4(COL11A1):c.4100C>T (p.Ala1367Val)
|
rs1057518442
|
|
NM_001854.4(COL11A1):c.4113G>C (p.Glu1371Asp)
|
rs2100925542
|
|
NM_001854.4(COL11A1):c.4136C>T (p.Ala1379Val)
|
rs764897552
|
|
NM_001854.4(COL11A1):c.4140+10A>G
|
rs187171126
|
|
NM_001854.4(COL11A1):c.4140+3A>G
|
|
|
NM_001854.4(COL11A1):c.4173A>T (p.Lys1391Asn)
|
rs753496492
|
|
NM_001854.4(COL11A1):c.4180C>A (p.Pro1394Thr)
|
rs2100923228
|
|
NM_001854.4(COL11A1):c.4214G>A (p.Gly1405Asp)
|
rs1652764880
|
|
NM_001854.4(COL11A1):c.4302+225dup
|
rs140129829
|
|
NM_001854.4(COL11A1):c.4303-13del
|
rs35232764
|
|
NM_001854.4(COL11A1):c.4303-13dup
|
rs35232764
|
|
NM_001854.4(COL11A1):c.4303-22T>G
|
rs74108036
|
|
NM_001854.4(COL11A1):c.4324C>T (p.Leu1442Phe)
|
|
|
NM_001854.4(COL11A1):c.4356+220G>T
|
rs186749898
|
|
NM_001854.4(COL11A1):c.4357-314_4357-310del
|
rs201893127
|
|
NM_001854.4(COL11A1):c.4382T>C (p.Ile1461Thr)
|
rs1651477480
|
|
NM_001854.4(COL11A1):c.4453A>G (p.Lys1485Glu)
|
rs2100857470
|
|
NM_001854.4(COL11A1):c.4464+46CA[14]
|
rs113226085
|
|
NM_001854.4(COL11A1):c.4464+46CA[15]
|
rs113226085
|
|
NM_001854.4(COL11A1):c.4464+46CA[17]
|
rs113226085
|
|
NM_001854.4(COL11A1):c.4464+46CA[18]
|
rs113226085
|
|
NM_001854.4(COL11A1):c.4464+46CA[19]
|
rs113226085
|
|
NM_001854.4(COL11A1):c.4464+46CA[20]
|
rs113226085
|
|
NM_001854.4(COL11A1):c.4518+5G>A
|
rs2100853342
|
|
NM_001854.4(COL11A1):c.4534A>G (p.Lys1512Glu)
|
rs1651341768
|
|
NM_001854.4(COL11A1):c.4536G>A (p.Lys1512=)
|
|
|
NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp)
|
rs1553193913
|
|
NM_001854.4(COL11A1):c.4552A>C (p.Thr1518Pro)
|
rs1057523166
|
|
NM_001854.4(COL11A1):c.4603_4604delinsCT (p.Ser1535Leu)
|
rs2100851197
|
|
NM_001854.4(COL11A1):c.4613C>T (p.Pro1538Leu)
|
rs1474325280
|
|
NM_001854.4(COL11A1):c.4619G>A (p.Gly1540Asp)
|
rs1432536379
|
|
NM_001854.4(COL11A1):c.4660A>C (p.Thr1554Pro)
|
rs2100840975
|
|
NM_001854.4(COL11A1):c.4660dup (p.Thr1554fs)
|
rs1570630126
|
|
NM_001854.4(COL11A1):c.4717T>G (p.Ser1573Ala)
|
|
|
NM_001854.4(COL11A1):c.4771G>A (p.Glu1591Lys)
|
|
|
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser)
|
rs75495145
|
|
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)
|
|
|
NM_001854.4(COL11A1):c.4819T>C (p.Cys1607Arg)
|
rs2100839621
|
|
NM_001854.4(COL11A1):c.4858+287G>A
|
rs1463048
|
|
NM_001854.4(COL11A1):c.4865A>G (p.Tyr1622Cys)
|
rs2101026386
|
|
NM_001854.4(COL11A1):c.4886G>T (p.Gly1629Val)
|
rs372504909
|
|
NM_001854.4(COL11A1):c.4903T>C (p.Phe1635Leu)
|
|
|
NM_001854.4(COL11A1):c.4961A>C (p.Lys1654Thr)
|
rs2101025808
|
|
NM_001854.4(COL11A1):c.4971+102T>A
|
rs74108030
|
|
NM_001854.4(COL11A1):c.4972-263G>T
|
rs112098344
|
|
NM_001854.4(COL11A1):c.497G>A (p.Arg166Gln)
|
rs142753283
|
|
NM_001854.4(COL11A1):c.4991C>A (p.Pro1664Gln)
|
rs1650268405
|
|
NM_001854.4(COL11A1):c.5275-178A>C
|
rs116234463
|
|
NM_001854.4(COL11A1):c.5292A>C (p.Glu1764Asp)
|
|
|
NM_001854.4(COL11A1):c.5294del (p.Lys1765fs)
|
rs2100996466
|
|
NM_001854.4(COL11A1):c.52A>G (p.Thr18Ala)
|
rs114630202
|
|
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=)
|
rs532113782
|
|
NM_001854.4(COL11A1):c.5398G>T (p.Gly1800Cys)
|
|
|
NM_001854.4(COL11A1):c.5412T>A (p.Phe1804Leu)
|
|
|
NM_001854.4(COL11A1):c.541G>A (p.Asp181Asn)
|
|
|
NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys)
|
rs184606223
|
|
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)
|
rs184606223
|
|
NM_001854.4(COL11A1):c.565C>A (p.Pro189Thr)
|
rs201557468
|
|
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser)
|
rs201557468
|
|
NM_001854.4(COL11A1):c.611C>A (p.Thr204Lys)
|
rs199595073
|
|
NM_001854.4(COL11A1):c.612G>T (p.Thr204=)
|
rs545867472
|
|
NM_001854.4(COL11A1):c.623C>T (p.Thr208Ile)
|
|
|
NM_001854.4(COL11A1):c.651+14C>T
|
rs1553252290
|
|
NM_001854.4(COL11A1):c.652-17T>G
|
rs555770298
|
|
NM_001854.4(COL11A1):c.652-18_652-16dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-6_652-5insTTC
|
rs749687230
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-7_652-6del
|
rs36076089
|
|
NM_001854.4(COL11A1):c.67G>T (p.Ala23Ser)
|
rs1386580787
|
|
NM_001854.4(COL11A1):c.67_74delinsCT (p.Ala23_Thr25delinsLeu)
|
rs2102453038
|
|
NM_001854.4(COL11A1):c.709G>A (p.Glu237Lys)
|
rs2101995328
|
|
NM_001854.4(COL11A1):c.781-292_781-291del
|
rs67985164
|
|
NM_001854.4(COL11A1):c.781-5T>G
|
rs1667517373
|
|
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr)
|
rs372319750
|
|
NM_001854.4(COL11A1):c.81C>T (p.Leu27=)
|
rs1027288806
|
|
NM_001854.4(COL11A1):c.828A>T (p.Ala276=)
|
rs764926559
|
|
NM_001854.4(COL11A1):c.897+200G>A
|
rs12750147
|
|
NM_001854.4(COL11A1):c.898-186G>A
|
rs1667461680
|
|
NM_001854.4(COL11A1):c.898-186G>T
|
rs1667461680
|
|
NM_001854.4(COL11A1):c.898-186del
|
rs2101962817
|
|
NM_001854.4(COL11A1):c.898-187G>T
|
rs768645535
|
|
NM_001854.4(COL11A1):c.898-196A>G
|
rs2101962872
|
|
NM_001854.4(COL11A1):c.898-201A>G
|
rs138054633
|
|
NM_001854.4(COL11A1):c.898-216G>A
|
|
|
NM_001854.4(COL11A1):c.898-259dup
|
rs2101963390
|
|
NM_001854.4(COL11A1):c.898-296C>G
|
|
|
NM_001854.4(COL11A1):c.991-14del
|
rs768258098
|
|
NM_001854.4(COL11A1):c.991-52_991-51del
|
rs111390852
|
|