NM_001851.6(COL9A1):c.1230+211T>C
|
rs551470
|
0.96455
|
NM_001851.6(COL9A1):c.1504-32T>G
|
rs633762
|
0.83978
|
NM_001851.6(COL9A1):c.2582-114C>T
|
rs1200569
|
0.77585
|
NM_001851.6(COL9A1):c.976-87A>G
|
rs603304
|
0.51791
|
NM_001851.6(COL9A1):c.1230+143G>A
|
rs550675
|
0.49176
|
NM_001851.6(COL9A1):c.1765-26T>C
|
rs519068
|
0.48558
|
NM_001851.6(COL9A1):c.15-54G>A
|
rs2242589
|
0.47156
|
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro)
|
rs592121
|
0.46927
|
NM_001851.6(COL9A1):c.1449+61G>A
|
rs2024730
|
0.43730
|
NM_001851.6(COL9A1):c.1720-147A>G
|
rs701688
|
0.42598
|
NM_001851.6(COL9A1):c.1720-100T>C
|
rs701689
|
0.42589
|
NM_001851.6(COL9A1):c.1720-24A>C
|
rs701690
|
0.42215
|
NM_001851.6(COL9A1):c.*266T>C
|
rs1064250
|
0.40880
|
NM_001851.6(COL9A1):c.1503+298T>C
|
rs506908
|
0.39345
|
NM_001851.6(COL9A1):c.1065+271C>T
|
rs7754619
|
0.39266
|
NM_001851.6(COL9A1):c.1862A>G (p.Gln621Arg)
|
rs1135056
|
0.38283
|
NM_001851.6(COL9A1):c.1066-273A>C
|
rs12530229
|
0.37761
|
NM_001851.6(COL9A1):c.1450-270C>T
|
rs1711729
|
0.37353
|
NM_001851.6(COL9A1):c.2259+32T>C
|
rs12191701
|
0.36512
|
NM_001851.6(COL9A1):c.976-88C>T
|
rs2274583
|
0.32386
|
NM_001851.6(COL9A1):c.975+132T>A
|
rs6455360
|
0.23862
|
NM_001851.6(COL9A1):c.1872+78T>C
|
rs2274586
|
0.22415
|
NM_001851.6(COL9A1):c.1144-177T>C
|
rs2296930
|
0.22403
|
NM_001851.6(COL9A1):c.975+45G>A
|
rs7764822
|
0.21907
|
NM_001851.6(COL9A1):c.14+39A>G
|
rs2242588
|
0.21553
|
NM_001851.6(COL9A1):c.89-12T>C
|
rs12210123
|
0.20825
|
NM_001851.6(COL9A1):c.1288-65T>C
|
rs883708
|
0.20312
|
NM_001851.6(COL9A1):c.2582-149C>G
|
rs2881343
|
0.19251
|
NM_001851.6(COL9A1):c.1449+245T>C
|
rs113677659
|
0.18980
|
NM_001851.4(COL9A1):c.-364C>G
|
rs6916646
|
0.18833
|
NM_001851.6(COL9A1):c.1765-201C>T
|
rs1321059
|
0.18322
|
NM_001851.6(COL9A1):c.1927-243C>T
|
rs6455357
|
0.18124
|
NM_001851.6(COL9A1):c.2259+55C>G
|
rs10945205
|
0.15888
|
NM_001851.6(COL9A1):c.1765-163G>A
|
rs9455017
|
0.15870
|
NM_001851.6(COL9A1):c.1765-146A>G
|
rs9446215
|
0.15860
|
NM_001851.6(COL9A1):c.1230+12T>C
|
rs6935778
|
0.15856
|
NM_001851.6(COL9A1):c.2080-118G>A
|
rs45464198
|
0.15769
|
NM_001851.6(COL9A1):c.1450-206T>C
|
rs10945208
|
0.15475
|
NM_001851.6(COL9A1):c.2080-90T>C
|
rs13216129
|
0.15047
|
NM_001851.6(COL9A1):c.2314+119C>G
|
rs12197487
|
0.14928
|
NM_001851.6(COL9A1):c.2314+235G>T
|
rs10945204
|
0.14582
|
NM_001851.6(COL9A1):c.1395+239A>G
|
rs10945209
|
0.13470
|
NM_001851.6(COL9A1):c.1612-26C>A
|
rs13219431
|
0.13355
|
NM_001851.6(COL9A1):c.1342-200T>A
|
rs10945210
|
0.12656
|
NM_001851.6(COL9A1):c.1288-188A>C
|
rs12196905
|
0.12653
|
NM_001851.6(COL9A1):c.1341+117T>A
|
rs12195310
|
0.12631
|
NM_001851.6(COL9A1):c.1030-178T>C
|
rs701683
|
0.12073
|
NM_001851.6(COL9A1):c.88+150G>T
|
rs9455036
|
0.11871
|
NM_001851.6(COL9A1):c.88+151T>A
|
rs9455035
|
0.11871
|
NM_001851.6(COL9A1):c.15-199C>G
|
rs9446221
|
0.10455
|
NM_001851.6(COL9A1):c.2034+177A>G
|
rs73749919
|
0.10200
|
NM_001851.6(COL9A1):c.*229T>C
|
rs2459555
|
0.09712
|
NM_001851.6(COL9A1):c.2080-30T>C
|
rs9446213
|
0.07884
|
NM_001851.6(COL9A1):c.2035-162A>G
|
rs571510344
|
0.07883
|
NM_001851.6(COL9A1):c.1999-83T>C
|
rs9455013
|
0.07822
|
NM_001851.6(COL9A1):c.976-173C>A
|
rs603410
|
0.07801
|
NM_001851.6(COL9A1):c.2079+37A>G
|
rs6914511
|
0.07742
|
NM_001851.6(COL9A1):c.1071T>C (p.Arg357=)
|
rs607156
|
0.07381
|
NM_001851.6(COL9A1):c.1287+110A>G
|
rs10755539
|
0.07340
|
NM_001851.6(COL9A1):c.877-23C>G
|
rs6928611
|
0.07064
|
NM_001851.6(COL9A1):c.1998+220G>T
|
rs73749922
|
0.06978
|
NM_001851.6(COL9A1):c.1998+224G>T
|
rs73749921
|
0.06978
|
NM_001851.6(COL9A1):c.-107A>G
|
rs9455037
|
0.05976
|
NM_001851.6(COL9A1):c.15-88_15-82del
|
rs71711228
|
0.05613
|
NM_001851.6(COL9A1):c.15-134A>G
|
rs941438239
|
0.04976
|
NM_001851.6(COL9A1):c.88+108C>T
|
rs9294863
|
0.04851
|
NM_001851.6(COL9A1):c.780+171T>G
|
rs62420260
|
0.04839
|
NM_001851.6(COL9A1):c.2503+69C>T
|
rs74699744
|
0.04826
|
NM_001851.6(COL9A1):c.1926+300T>C
|
rs75350484
|
0.04823
|
NM_001851.6(COL9A1):c.780+380G>A
|
rs72927370
|
0.04731
|
NM_001851.6(COL9A1):c.1066-36C>A
|
rs77357454
|
0.04608
|
NM_001851.6(COL9A1):c.1066-316C>A
|
rs117607348
|
0.04604
|
NM_001851.6(COL9A1):c.876+13C>T
|
rs117215769
|
0.04499
|
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val)
|
rs6910140
|
0.04394
|
NM_001851.6(COL9A1):c.1719+122A>G
|
rs6923863
|
0.04272
|
NM_001851.6(COL9A1):c.1666-65C>T
|
rs620023
|
0.04262
|
NM_001851.6(COL9A1):c.1504-14T>A
|
rs537940
|
0.04260
|
NM_001851.6(COL9A1):c.1665+54A>G
|
rs542440
|
0.04253
|
NM_001851.6(COL9A1):c.88+195G>A
|
rs117426118
|
0.04187
|
NM_001851.6(COL9A1):c.1198-232T>C
|
rs6936355
|
0.04152
|
NM_001851.6(COL9A1):c.1197+265C>T
|
rs6913123
|
0.04131
|
NM_001851.6(COL9A1):c.1230+292C>T
|
rs3737010
|
0.04079
|
NM_001851.6(COL9A1):c.1720-115A>G
|
rs3806081
|
0.04039
|
NM_001851.6(COL9A1):c.1342-152T>G
|
rs11760185
|
0.03978
|
NM_001851.6(COL9A1):c.2504-47A>G
|
rs79282554
|
0.03680
|
NM_001851.6(COL9A1):c.1719+238T>A
|
rs2296931
|
0.03673
|
NM_001851.6(COL9A1):c.1144-264T>C
|
rs16868852
|
0.03528
|
NM_001851.6(COL9A1):c.2113-90C>T
|
rs72923125
|
0.03442
|
NM_001851.6(COL9A1):c.2113-182G>A
|
rs72923127
|
0.03434
|
NM_001851.6(COL9A1):c.1066-3T>C
|
rs16868869
|
0.03394
|
NM_001851.6(COL9A1):c.14+132G>A
|
rs117734911
|
0.02830
|
NM_001851.6(COL9A1):c.1231-141G>A
|
rs78257047
|
0.02702
|
NM_001851.6(COL9A1):c.1764+273A>T
|
rs75073449
|
0.02624
|
NM_001851.6(COL9A1):c.1143+308C>G
|
rs16868866
|
0.02480
|
NM_001851.6(COL9A1):c.1066-324G>A
|
rs1887762
|
0.02451
|
NM_001851.6(COL9A1):c.1066-218A>T
|
rs78944678
|
0.02229
|
NM_001851.6(COL9A1):c.1030-20G>T
|
rs16868897
|
0.02172
|
NM_001851.6(COL9A1):c.1030-301G>A
|
rs112075981
|
0.02160
|
NM_001851.6(COL9A1):c.1231-79G>T
|
rs116114924
|
0.02083
|
NM_001851.6(COL9A1):c.2112+69T>C
|
rs115948163
|
0.02035
|
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr)
|
rs34119578
|
0.01848
|
NM_001851.6(COL9A1):c.912+37C>T
|
rs41303785
|
0.01812
|
NM_001851.6(COL9A1):c.1396-87C>T
|
rs114865373
|
0.01786
|
NM_001851.6(COL9A1):c.1999-95C>T
|
rs75139444
|
0.01663
|
NM_001851.6(COL9A1):c.2582-164T>C
|
rs9455005
|
0.01460
|
NM_001851.6(COL9A1):c.2582-103G>A
|
rs9455004
|
0.01439
|
NC_000006.12:g.70303155G>A
|
rs73747757
|
0.01372
|
NM_001851.6(COL9A1):c.802-22C>T
|
rs73745359
|
0.01297
|
NM_001851.6(COL9A1):c.2271G>A (p.Pro757=)
|
rs2072650
|
0.01180
|
NM_001851.6(COL9A1):c.1030-144C>A
|
rs138106425
|
0.01161
|
NM_001851.6(COL9A1):c.1927-171C>T
|
rs150796746
|
0.01126
|
NM_001851.6(COL9A1):c.14+133G>A
|
rs113812077
|
0.01008
|
NM_001851.6(COL9A1):c.2113-191T>C
|
rs74780299
|
0.00890
|
NM_001851.6(COL9A1):c.1719+173T>G
|
rs75168457
|
0.00865
|
NM_001851.6(COL9A1):c.801+154A>T
|
rs117320420
|
0.00825
|
NM_001851.6(COL9A1):c.2582-231A>T
|
rs77849671
|
0.00787
|
NM_001851.6(COL9A1):c.801+306G>A
|
rs142034122
|
0.00777
|
NM_001851.6(COL9A1):c.1666-32G>A
|
rs72923190
|
0.00751
|
NM_001851.6(COL9A1):c.976-157T>C
|
rs41265345
|
0.00735
|
NM_001851.6(COL9A1):c.1665+142T>A
|
rs147347330
|
0.00697
|
NM_001851.6(COL9A1):c.697-125G>A
|
rs6905075
|
0.00668
|
NM_001851.6(COL9A1):c.15-53T>C
|
rs112025673
|
0.00653
|
NM_001851.6(COL9A1):c.1288-146T>A
|
rs74917222
|
0.00588
|
NM_001851.6(COL9A1):c.1198-164C>T
|
rs79863473
|
0.00586
|
NM_001851.6(COL9A1):c.1287+144G>T
|
rs146610513
|
0.00498
|
NM_001851.6(COL9A1):c.1656T>C (p.Pro552=)
|
rs80251646
|
0.00493
|
NM_001851.6(COL9A1):c.1927-181A>T
|
rs115255573
|
0.00490
|
NM_001851.6(COL9A1):c.15-159C>T
|
rs368083151
|
0.00472
|
NM_001851.6(COL9A1):c.781-218C>T
|
rs73473599
|
0.00449
|
NM_001851.6(COL9A1):c.802-148C>G
|
rs73473597
|
0.00448
|
NM_001851.6(COL9A1):c.876+6T>C
|
rs73473595
|
0.00444
|
NM_001851.6(COL9A1):c.1341+185T>C
|
rs112738770
|
0.00442
|
NM_001851.6(COL9A1):c.876+76G>T
|
rs6934633
|
0.00407
|
NM_001851.6(COL9A1):c.1197+11T>C
|
rs73745357
|
0.00388
|
NM_001851.6(COL9A1):c.89-28G>A
|
rs183387139
|
0.00387
|
NM_001851.6(COL9A1):c.1231-77T>C
|
rs111533861
|
0.00384
|
NM_001851.6(COL9A1):c.300-136A>G
|
rs76693521
|
0.00380
|
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)
|
rs77706858
|
0.00348
|
NM_001851.6(COL9A1):c.1143+191C>T
|
rs6905099
|
0.00331
|
NM_001851.6(COL9A1):c.975+198A>G
|
rs115555867
|
0.00330
|
NM_001851.6(COL9A1):c.1665+86A>G
|
rs139494795
|
0.00326
|
NM_001851.6(COL9A1):c.1065+84T>G
|
rs187706293
|
0.00324
|
NM_001851.6(COL9A1):c.1395+301C>T
|
rs139153122
|
0.00324
|
NM_001851.6(COL9A1):c.1066-206A>G
|
rs113541357
|
0.00323
|
NM_001851.6(COL9A1):c.1342-207T>G
|
rs190799074
|
0.00323
|
NM_001851.6(COL9A1):c.1395+14T>A
|
rs367801990
|
0.00323
|
NM_001851.6(COL9A1):c.2034+158G>T
|
rs77219154
|
0.00317
|
NM_001851.6(COL9A1):c.1288-4T>A
|
rs142431834
|
0.00315
|
NM_001851.6(COL9A1):c.696+26C>A
|
rs145141059
|
0.00310
|
NM_001851.6(COL9A1):c.1612-25A>G
|
rs142559198
|
0.00302
|
NM_001851.6(COL9A1):c.1089+9C>G
|
rs142247988
|
0.00221
|
NM_001851.6(COL9A1):c.138G>A (p.Lys46=)
|
rs139361722
|
0.00214
|
NM_001851.6(COL9A1):c.299+14A>C
|
rs138522232
|
0.00214
|
NM_001851.6(COL9A1):c.-50A>G
|
rs141436759
|
0.00213
|
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)
|
rs151129325
|
0.00207
|
NM_001851.6(COL9A1):c.1288-9A>G
|
rs181039243
|
0.00133
|
NM_001851.6(COL9A1):c.801+11G>C
|
rs200305129
|
0.00113
|
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)
|
rs192047082
|
0.00083
|
NM_001851.6(COL9A1):c.1720-11T>C
|
rs374054294
|
0.00081
|
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)
|
rs202176764
|
0.00079
|
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg)
|
rs149459564
|
0.00077
|
NM_001851.6(COL9A1):c.2113-19G>A
|
rs187218937
|
0.00076
|
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=)
|
rs75433477
|
0.00067
|
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)
|
rs143848379
|
0.00061
|
NM_001851.6(COL9A1):c.1368C>T (p.Leu456=)
|
rs140761349
|
0.00053
|
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln)
|
rs192467838
|
0.00041
|
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His)
|
rs142328549
|
0.00039
|
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His)
|
rs141830060
|
0.00039
|
NM_001851.6(COL9A1):c.452A>T (p.Gln151Leu)
|
rs149389568
|
0.00033
|
NM_001851.6(COL9A1):c.1090-6C>T
|
rs369198071
|
0.00031
|
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=)
|
rs141047907
|
0.00031
|
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu)
|
rs138583508
|
0.00031
|
NM_001851.6(COL9A1):c.876+2dup
|
rs672601329
|
0.00030
|
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys)
|
rs141825151
|
0.00029
|
NM_001851.6(COL9A1):c.1569T>A (p.Gly523=)
|
rs150970524
|
0.00027
|
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)
|
rs145698301
|
0.00025
|
NM_001851.6(COL9A1):c.1423G>A (p.Gly475Ser)
|
rs143320197
|
0.00024
|
NM_001851.6(COL9A1):c.1553A>T (p.Asp518Val)
|
rs142539130
|
0.00019
|
NM_001851.6(COL9A1):c.795C>G (p.Thr265=)
|
rs149067801
|
0.00019
|
NM_001851.6(COL9A1):c.976-10G>T
|
rs200618486
|
0.00019
|
NM_001851.6(COL9A1):c.2304A>G (p.Arg768=)
|
rs138465615
|
0.00018
|
NM_001851.6(COL9A1):c.1818+7_1818+10dup
|
rs200555682
|
0.00017
|
NM_001851.6(COL9A1):c.2259+7G>T
|
rs373480203
|
0.00017
|
NM_001851.6(COL9A1):c.831C>A (p.Pro277=)
|
rs145800598
|
0.00017
|
NM_001851.6(COL9A1):c.1070G>A (p.Arg357His)
|
rs139288475
|
0.00016
|
NM_001851.6(COL9A1):c.158A>G (p.Asp53Gly)
|
rs564421091
|
0.00016
|
NM_001851.6(COL9A1):c.2535T>C (p.Pro845=)
|
rs751660212
|
0.00016
|
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu)
|
rs145207010
|
0.00016
|
NM_001851.6(COL9A1):c.80G>A (p.Arg27His)
|
rs150026024
|
0.00016
|
NM_001851.6(COL9A1):c.1066-20T>C
|
rs574015478
|
0.00015
|
NM_001851.6(COL9A1):c.166+20A>G
|
rs376369283
|
0.00015
|
NM_001851.6(COL9A1):c.1426A>G (p.Ile476Val)
|
rs1135054
|
0.00014
|
NM_001851.6(COL9A1):c.1558G>A (p.Gly520Arg)
|
rs147731531
|
0.00014
|
NM_001851.6(COL9A1):c.453A>G (p.Gln151=)
|
rs372580255
|
0.00013
|
NM_001851.6(COL9A1):c.876+2T>A
|
rs149830493
|
0.00013
|
NM_001851.6(COL9A1):c.2504-5T>C
|
rs568295931
|
0.00012
|
NM_001851.6(COL9A1):c.2754G>A (p.Gly918=)
|
rs373430094
|
0.00012
|
NM_001851.6(COL9A1):c.827C>T (p.Pro276Leu)
|
rs200322941
|
0.00012
|
NM_001851.6(COL9A1):c.1055G>A (p.Arg352His)
|
rs200540554
|
0.00011
|
NM_001851.6(COL9A1):c.1282A>C (p.Met428Leu)
|
rs146274972
|
0.00011
|
NM_001851.6(COL9A1):c.1554T>C (p.Asp518=)
|
rs746982749
|
0.00011
|
NM_001851.6(COL9A1):c.1665+5G>T
|
rs369698214
|
0.00011
|
NM_001851.6(COL9A1):c.1818+3A>G
|
rs369133694
|
0.00011
|
NM_001851.6(COL9A1):c.1992T>G (p.Gly664=)
|
rs138810927
|
0.00011
|
NM_001851.6(COL9A1):c.512A>G (p.Asn171Ser)
|
rs201634520
|
0.00011
|
NM_001851.6(COL9A1):c.71C>T (p.Ala24Val)
|
rs776655718
|
0.00011
|
NM_001851.6(COL9A1):c.780+7C>A
|
rs370822868
|
0.00011
|
NM_001851.6(COL9A1):c.1192C>T (p.Pro398Ser)
|
rs142579851
|
0.00010
|
NM_001851.6(COL9A1):c.462A>G (p.Val154=)
|
rs150571620
|
0.00010
|
NM_001851.6(COL9A1):c.1718C>T (p.Pro573Leu)
|
rs746183818
|
0.00009
|
NM_001851.6(COL9A1):c.1732A>T (p.Ile578Phe)
|
rs552818441
|
0.00009
|
NM_001851.6(COL9A1):c.344C>T (p.Thr115Met)
|
rs200018557
|
0.00009
|
NM_001851.6(COL9A1):c.38T>C (p.Val13Ala)
|
rs140274454
|
0.00009
|
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val)
|
rs186444567
|
0.00009
|
NM_001851.6(COL9A1):c.808C>T (p.Pro270Ser)
|
rs376107070
|
0.00009
|
NM_001851.6(COL9A1):c.11G>A (p.Cys4Tyr)
|
rs547666229
|
0.00008
|
NM_001851.6(COL9A1):c.15-13del
|
rs752840659
|
0.00008
|
NM_001851.6(COL9A1):c.15-15T>C
|
rs773055477
|
0.00008
|
NM_001851.6(COL9A1):c.2073G>A (p.Gly691=)
|
rs577242300
|
0.00008
|
NM_001851.6(COL9A1):c.2553C>T (p.Asn851=)
|
rs534752381
|
0.00008
|
NM_001851.6(COL9A1):c.801+19G>T
|
rs540401330
|
0.00008
|
NM_001851.6(COL9A1):c.1384C>G (p.Gln462Glu)
|
rs201364357
|
0.00007
|
NM_001851.6(COL9A1):c.15-3C>T
|
rs367798424
|
0.00007
|
NM_001851.6(COL9A1):c.1504-19A>C
|
rs377339892
|
0.00007
|
NM_001851.6(COL9A1):c.1946G>C (p.Gly649Ala)
|
rs201480339
|
0.00007
|
NM_001851.6(COL9A1):c.645T>C (p.Asp215=)
|
rs138147561
|
0.00007
|
NM_001851.6(COL9A1):c.88+19A>C
|
rs188749185
|
0.00007
|
NM_001851.6(COL9A1):c.1010T>C (p.Ile337Thr)
|
rs147747530
|
0.00006
|
NM_001851.6(COL9A1):c.1138C>T (p.Pro380Ser)
|
rs368495915
|
0.00006
|
NM_001851.6(COL9A1):c.1197+14del
|
rs779863197
|
0.00006
|
NM_001851.6(COL9A1):c.1504-3C>T
|
rs533952787
|
0.00006
|
NM_001851.6(COL9A1):c.1558-18T>C
|
rs192159251
|
0.00006
|
NM_001851.6(COL9A1):c.1610C>T (p.Thr537Met)
|
rs141895443
|
0.00006
|
NM_001851.6(COL9A1):c.1611G>A (p.Thr537=)
|
rs529005717
|
0.00006
|
NM_001851.6(COL9A1):c.1620A>G (p.Pro540=)
|
rs199559331
|
0.00006
|
NM_001851.6(COL9A1):c.1666-10T>G
|
rs762825632
|
0.00006
|
NM_001851.6(COL9A1):c.2035-5T>A
|
rs750454914
|
0.00006
|
NM_001851.6(COL9A1):c.2348G>A (p.Arg783His)
|
rs375684014
|
0.00006
|
NM_001851.6(COL9A1):c.2622C>T (p.Asp874=)
|
rs149139869
|
0.00006
|
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser)
|
rs199581593
|
0.00006
|
NM_001851.6(COL9A1):c.584T>C (p.Phe195Ser)
|
rs776065464
|
0.00006
|
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr)
|
rs141776183
|
0.00006
|
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter)
|
rs374843706
|
0.00005
|
NM_001851.6(COL9A1):c.1202C>A (p.Thr401Lys)
|
rs376664058
|
0.00005
|
NM_001851.6(COL9A1):c.1376T>C (p.Val459Ala)
|
rs761676771
|
0.00005
|
NM_001851.6(COL9A1):c.1562C>T (p.Ala521Val)
|
rs773325813
|
0.00005
|
NM_001851.6(COL9A1):c.166+5G>A
|
rs544432669
|
0.00005
|
NM_001851.6(COL9A1):c.2401C>T (p.Pro801Ser)
|
rs147095719
|
0.00005
|
NM_001851.6(COL9A1):c.2675C>T (p.Pro892Leu)
|
rs760617713
|
0.00005
|
NM_001851.6(COL9A1):c.1065+75A>T
|
rs1033750704
|
0.00004
|
NM_001851.6(COL9A1):c.107A>G (p.Asn36Ser)
|
rs1264829149
|
0.00004
|
NM_001851.6(COL9A1):c.1141G>A (p.Val381Ile)
|
rs1245320559
|
0.00004
|
NM_001851.6(COL9A1):c.1201A>G (p.Thr401Ala)
|
rs138091050
|
0.00004
|
NM_001851.6(COL9A1):c.1322C>A (p.Pro441Gln)
|
rs558743694
|
0.00004
|
NM_001851.6(COL9A1):c.1410G>A (p.Leu470=)
|
rs934572839
|
0.00004
|
NM_001851.6(COL9A1):c.1505G>A (p.Gly502Asp)
|
rs376101677
|
0.00004
|
NM_001851.6(COL9A1):c.1593T>G (p.Pro531=)
|
rs1012675549
|
0.00004
|
NM_001851.6(COL9A1):c.1682C>G (p.Pro561Arg)
|
rs982761741
|
0.00004
|
NM_001851.6(COL9A1):c.1877G>A (p.Ser626Asn)
|
rs758159064
|
0.00004
|
NM_001851.6(COL9A1):c.1961C>T (p.Pro654Leu)
|
rs766455840
|
0.00004
|
NM_001851.6(COL9A1):c.1999-16A>G
|
rs202160267
|
0.00004
|
NM_001851.6(COL9A1):c.2008G>A (p.Gly670Ser)
|
rs778543412
|
0.00004
|
NM_001851.6(COL9A1):c.2403C>T (p.Pro801=)
|
rs759764758
|
0.00004
|
NM_001851.6(COL9A1):c.685G>A (p.Val229Ile)
|
rs372320539
|
0.00004
|
NM_001851.6(COL9A1):c.697-4C>G
|
rs760266478
|
0.00004
|
NM_001851.6(COL9A1):c.6G>T (p.Lys2Asn)
|
rs775789844
|
0.00004
|
NM_001851.6(COL9A1):c.801+10G>C
|
rs542704238
|
0.00004
|
NM_001851.6(COL9A1):c.876+10T>C
|
rs1003254608
|
0.00004
|
NM_001851.6(COL9A1):c.899C>T (p.Pro300Leu)
|
rs757897415
|
0.00004
|
NM_001851.6(COL9A1):c.1107A>G (p.Ala369=)
|
rs747443799
|
0.00003
|
NM_001851.6(COL9A1):c.1197+9T>C
|
rs374375042
|
0.00003
|
NM_001851.6(COL9A1):c.1342-15C>G
|
rs200223246
|
0.00003
|
NM_001851.6(COL9A1):c.1369G>A (p.Gly457Arg)
|
rs148011193
|
0.00003
|
NM_001851.6(COL9A1):c.14+3A>G
|
rs534725462
|
0.00003
|
NM_001851.6(COL9A1):c.143G>T (p.Arg48Met)
|
rs368399817
|
0.00003
|
NM_001851.6(COL9A1):c.1465G>C (p.Asp489His)
|
rs550014166
|
0.00003
|
NM_001851.6(COL9A1):c.167-11C>T
|
rs370460481
|
0.00003
|
NM_001851.6(COL9A1):c.1748G>A (p.Gly583Asp)
|
rs765037928
|
0.00003
|
NM_001851.6(COL9A1):c.2314+18G>T
|
rs777064364
|
0.00003
|
NM_001851.6(COL9A1):c.2527C>T (p.Arg843Cys)
|
rs143217938
|
0.00003
|
NM_001851.6(COL9A1):c.2721C>T (p.Thr907=)
|
rs567606245
|
0.00003
|
NM_001851.6(COL9A1):c.510G>A (p.Ser170=)
|
rs759061294
|
0.00003
|
NM_001851.6(COL9A1):c.548T>C (p.Ile183Thr)
|
rs759724577
|
0.00003
|
NM_001851.6(COL9A1):c.824G>C (p.Gly275Ala)
|
rs891118219
|
0.00003
|
NM_001851.6(COL9A1):c.83G>A (p.Arg28His)
|
rs778243284
|
0.00003
|
NM_001851.6(COL9A1):c.876+1G>C
|
rs202232444
|
0.00003
|
NM_001851.6(COL9A1):c.89-13A>G
|
rs774158109
|
0.00003
|
NM_001851.6(COL9A1):c.89-20A>G
|
rs887185388
|
0.00003
|
NM_001851.6(COL9A1):c.1036C>T (p.Pro346Ser)
|
rs779666896
|
0.00002
|
NM_001851.6(COL9A1):c.116G>T (p.Gly39Val)
|
rs781464240
|
0.00002
|
NM_001851.6(COL9A1):c.1197+6T>A
|
rs377762690
|
0.00002
|
NM_001851.6(COL9A1):c.1231-19T>C
|
rs936305412
|
0.00002
|
NM_001851.6(COL9A1):c.1238A>G (p.Asn413Ser)
|
rs202034701
|
0.00002
|
NM_001851.6(COL9A1):c.1256G>A (p.Arg419His)
|
rs757314373
|
0.00002
|
NM_001851.6(COL9A1):c.127C>T (p.Leu43Phe)
|
rs372737493
|
0.00002
|
NM_001851.6(COL9A1):c.1290T>A (p.Gly430=)
|
rs141904957
|
0.00002
|
NM_001851.6(COL9A1):c.131G>C (p.Cys44Ser)
|
rs1375599039
|
0.00002
|
NM_001851.6(COL9A1):c.1404G>A (p.Gln468=)
|
rs371743577
|
0.00002
|
NM_001851.6(COL9A1):c.1541G>T (p.Gly514Val)
|
rs1176050943
|
0.00002
|
NM_001851.6(COL9A1):c.1561G>C (p.Ala521Pro)
|
rs1402008313
|
0.00002
|
NM_001851.6(COL9A1):c.1598C>T (p.Pro533Leu)
|
rs768487303
|
0.00002
|
NM_001851.6(COL9A1):c.167-4A>G
|
rs374720909
|
0.00002
|
NM_001851.6(COL9A1):c.167-9A>G
|
rs367635142
|
0.00002
|
NM_001851.6(COL9A1):c.1765-19T>C
|
rs543803249
|
0.00002
|
NM_001851.6(COL9A1):c.1852C>T (p.Arg618Ter)
|
rs764469753
|
0.00002
|
NM_001851.6(COL9A1):c.1853G>A (p.Arg618Gln)
|
rs761249181
|
0.00002
|
NM_001851.6(COL9A1):c.1873-6T>G
|
rs766085405
|
0.00002
|
NM_001851.6(COL9A1):c.1905C>T (p.Ser635=)
|
rs1057523934
|
0.00002
|
NM_001851.6(COL9A1):c.2007C>T (p.Val669=)
|
rs752045085
|
0.00002
|
NM_001851.6(COL9A1):c.2204G>A (p.Arg735Gln)
|
rs769986009
|
0.00002
|
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val)
|
rs781246762
|
0.00002
|
NM_001851.6(COL9A1):c.2237T>G (p.Leu746Arg)
|
rs1251807389
|
0.00002
|
NM_001851.6(COL9A1):c.2258C>T (p.Pro753Leu)
|
rs763616322
|
0.00002
|
NM_001851.6(COL9A1):c.2260-20T>C
|
rs778775136
|
0.00002
|
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu)
|
rs757218488
|
0.00002
|
NM_001851.6(COL9A1):c.2276A>T (p.Asp759Val)
|
rs752385858
|
0.00002
|
NM_001851.6(COL9A1):c.2335G>T (p.Ala779Ser)
|
rs961499099
|
0.00002
|
NM_001851.6(COL9A1):c.2520G>A (p.Lys840=)
|
rs1287408615
|
0.00002
|
NM_001851.6(COL9A1):c.2528G>A (p.Arg843His)
|
rs547618159
|
0.00002
|
NM_001851.6(COL9A1):c.2569A>G (p.Ile857Val)
|
rs768737537
|
0.00002
|
NM_001851.6(COL9A1):c.2613T>C (p.Asn871=)
|
rs773848465
|
0.00002
|
NM_001851.6(COL9A1):c.342G>A (p.Leu114=)
|
rs887334836
|
0.00002
|
NM_001851.6(COL9A1):c.390T>C (p.Ile130=)
|
rs746875780
|
0.00002
|
NM_001851.6(COL9A1):c.490C>T (p.Leu164Phe)
|
rs749263101
|
0.00002
|
NM_001851.6(COL9A1):c.509C>T (p.Ser170Leu)
|
rs780899445
|
0.00002
|
NM_001851.6(COL9A1):c.641T>C (p.Ile214Thr)
|
rs551707191
|
0.00002
|
NM_001851.6(COL9A1):c.751A>G (p.Thr251Ala)
|
rs1478081797
|
0.00002
|
NM_001851.6(COL9A1):c.780G>T (p.Thr260=)
|
rs374569401
|
0.00002
|
NM_001851.6(COL9A1):c.817G>A (p.Glu273Lys)
|
rs374036753
|
0.00002
|
NM_001851.6(COL9A1):c.913-8_913-7insA
|
rs768702678
|
0.00002
|
NM_001851.6(COL9A1):c.976-5A>G
|
rs762250392
|
0.00002
|
NM_001851.6(COL9A1):c.1002T>A (p.Pro334=)
|
rs1057523730
|
0.00001
|
NM_001851.6(COL9A1):c.1030-10T>G
|
rs199858681
|
0.00001
|
NM_001851.6(COL9A1):c.1030-7T>A
|
rs1276980141
|
0.00001
|
NM_001851.6(COL9A1):c.1054C>T (p.Arg352Cys)
|
rs1302609073
|
0.00001
|
NM_001851.6(COL9A1):c.1066-12G>A
|
rs1772439706
|
0.00001
|
NM_001851.6(COL9A1):c.1105G>T (p.Ala369Ser)
|
rs768904572
|
0.00001
|
NM_001851.6(COL9A1):c.1143+48G>T
|
rs559085408
|
0.00001
|
NM_001851.6(COL9A1):c.1143+4A>G
|
rs1224302280
|
0.00001
|
NM_001851.6(COL9A1):c.1198-11G>A
|
rs769864442
|
0.00001
|
NM_001851.6(COL9A1):c.1231-11C>T
|
rs1432311126
|
0.00001
|
NM_001851.6(COL9A1):c.1258T>A (p.Ser420Thr)
|
rs971866455
|
0.00001
|
NM_001851.6(COL9A1):c.1287+15T>C
|
rs1181914809
|
0.00001
|
NM_001851.6(COL9A1):c.1288-12T>G
|
rs774330199
|
0.00001
|
NM_001851.6(COL9A1):c.1288-16A>G
|
rs1193379635
|
0.00001
|
NM_001851.6(COL9A1):c.1288-8T>C
|
rs188976670
|
0.00001
|
NM_001851.6(COL9A1):c.1291C>A (p.His431Asn)
|
rs1411242839
|
0.00001
|
NM_001851.6(COL9A1):c.1304A>G (p.Lys435Arg)
|
rs201798341
|
0.00001
|
NM_001851.6(COL9A1):c.1317T>C (p.Gly439=)
|
rs372343342
|
0.00001
|
NM_001851.6(COL9A1):c.1330C>T (p.Gln444Ter)
|
rs1772042015
|
0.00001
|
NM_001851.6(COL9A1):c.133C>A (p.Pro45Thr)
|
rs1293482329
|
0.00001
|
NM_001851.6(COL9A1):c.1341+10A>G
|
rs565121413
|
0.00001
|
NM_001851.6(COL9A1):c.1341+5G>A
|
rs794727203
|
0.00001
|
NM_001851.6(COL9A1):c.1366C>T (p.Leu456Phe)
|
rs751839615
|
0.00001
|
NM_001851.6(COL9A1):c.1375G>T (p.Val459Phe)
|
rs1302661247
|
0.00001
|
NM_001851.6(COL9A1):c.1394C>T (p.Pro465Leu)
|
rs1354769954
|
0.00001
|
NM_001851.6(COL9A1):c.1396-20T>C
|
rs764077236
|
0.00001
|
NM_001851.6(COL9A1):c.14+7C>T
|
rs565902591
|
0.00001
|
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter)
|
rs745532481
|
0.00001
|
NM_001851.6(COL9A1):c.1412G>A (p.Arg471Gln)
|
rs773570789
|
0.00001
|
NM_001851.6(COL9A1):c.1458G>C (p.Arg486=)
|
rs569743763
|
0.00001
|
NM_001851.6(COL9A1):c.1481C>T (p.Pro494Leu)
|
rs769158574
|
0.00001
|
NM_001851.6(COL9A1):c.1491T>C (p.Leu497=)
|
rs1443111926
|
0.00001
|
NM_001851.6(COL9A1):c.1515A>G (p.Gly505=)
|
rs201066509
|
0.00001
|
NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter)
|
rs189754995
|
0.00001
|
NM_001851.6(COL9A1):c.1567G>A (p.Gly523Ser)
|
rs1461660189
|
0.00001
|
NM_001851.6(COL9A1):c.1596G>A (p.Gly532=)
|
rs145650924
|
0.00001
|
NM_001851.6(COL9A1):c.1608C>T (p.Asp536=)
|
rs746848531
|
0.00001
|
NM_001851.6(COL9A1):c.1626G>A (p.Val542=)
|
rs1309023861
|
0.00001
|
NM_001851.6(COL9A1):c.1633C>T (p.Arg545Cys)
|
rs780405287
|
0.00001
|
NM_001851.6(COL9A1):c.1655C>T (p.Pro552Leu)
|
rs753916112
|
0.00001
|
NM_001851.6(COL9A1):c.166+12T>C
|
rs886038498
|
0.00001
|
NM_001851.6(COL9A1):c.1661C>A (p.Thr554Lys)
|
rs1771183436
|
0.00001
|
NM_001851.6(COL9A1):c.1665+20C>G
|
rs1388265270
|
0.00001
|
NM_001851.6(COL9A1):c.1665+2T>C
|
rs759460647
|
0.00001
|
NM_001851.6(COL9A1):c.1666-12C>T
|
rs770848977
|
0.00001
|
NM_001851.6(COL9A1):c.1666-13G>A
|
rs774334207
|
0.00001
|
NM_001851.6(COL9A1):c.1666-18T>C
|
rs752952751
|
0.00001
|
NM_001851.6(COL9A1):c.1701A>G (p.Ala567=)
|
rs1057523729
|
0.00001
|
NM_001851.6(COL9A1):c.1720-6T>C
|
rs1175744648
|
0.00001
|
NM_001851.6(COL9A1):c.1816C>T (p.Pro606Ser)
|
rs773380068
|
0.00001
|
NM_001851.6(COL9A1):c.1817C>T (p.Pro606Leu)
|
rs151066293
|
0.00001
|
NM_001851.6(COL9A1):c.1818G>A (p.Pro606=)
|
rs1296099818
|
0.00001
|
NM_001851.6(COL9A1):c.1872+17G>A
|
rs771191521
|
0.00001
|
NM_001851.6(COL9A1):c.1926+12A>G
|
rs774435530
|
0.00001
|
NM_001851.6(COL9A1):c.1926+6T>G
|
rs372289111
|
0.00001
|
NM_001851.6(COL9A1):c.1927-13T>G
|
rs758066902
|
0.00001
|
NM_001851.6(COL9A1):c.1928G>T (p.Gly643Val)
|
rs1770293261
|
0.00001
|
NM_001851.6(COL9A1):c.1939A>C (p.Ser647Arg)
|
rs200194450
|
0.00001
|
NM_001851.6(COL9A1):c.194T>C (p.Val65Ala)
|
rs371407785
|
0.00001
|
NM_001851.6(COL9A1):c.1966C>T (p.Pro656Ser)
|
rs773476642
|
0.00001
|
NM_001851.6(COL9A1):c.2003T>C (p.Val668Ala)
|
rs1199161003
|
0.00001
|
NM_001851.6(COL9A1):c.2006T>G (p.Val669Gly)
|
rs1231559197
|
0.00001
|
NM_001851.6(COL9A1):c.2015C>T (p.Pro672Leu)
|
rs765463295
|
0.00001
|
NM_001851.6(COL9A1):c.2040C>A (p.Ala680=)
|
rs1483676538
|
0.00001
|
NM_001851.6(COL9A1):c.2146C>T (p.Pro716Ser)
|
rs977443998
|
0.00001
|
NM_001851.6(COL9A1):c.2150A>C (p.Glu717Ala)
|
rs955449925
|
0.00001
|
NM_001851.6(COL9A1):c.2158C>T (p.Arg720Trp)
|
rs750991236
|
0.00001
|
NM_001851.6(COL9A1):c.2241T>C (p.Pro747=)
|
rs201479028
|
0.00001
|
NM_001851.6(COL9A1):c.2243G>T (p.Gly748Val)
|
rs368781924
|
0.00001
|
NM_001851.6(COL9A1):c.2260-3C>T
|
rs1305147526
|
0.00001
|
NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val)
|
rs767229176
|
0.00001
|
NM_001851.6(COL9A1):c.2340T>C (p.Ser780=)
|
rs754706930
|
0.00001
|
NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser)
|
rs774610828
|
0.00001
|
NM_001851.6(COL9A1):c.2416G>C (p.Glu806Gln)
|
rs1391517875
|
0.00001
|
NM_001851.6(COL9A1):c.2456C>T (p.Pro819Leu)
|
rs144581626
|
0.00001
|
NM_001851.6(COL9A1):c.2457G>A (p.Pro819=)
|
rs757620185
|
0.00001
|
NM_001851.6(COL9A1):c.2504-19T>C
|
rs537226988
|
0.00001
|
NM_001851.6(COL9A1):c.2537C>G (p.Pro846Arg)
|
rs201978369
|
0.00001
|
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser)
|
rs578034223
|
0.00001
|
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)
|
rs1135057
|
0.00001
|
NM_001851.6(COL9A1):c.2582-3C>T
|
rs760704462
|
0.00001
|
NM_001851.6(COL9A1):c.2590G>A (p.Gly864Ser)
|
rs745421286
|
0.00001
|
NM_001851.6(COL9A1):c.2643G>A (p.Gly881=)
|
rs1031413732
|
0.00001
|
NM_001851.6(COL9A1):c.2676G>A (p.Pro892=)
|
rs199845159
|
0.00001
|
NM_001851.6(COL9A1):c.2694C>T (p.Pro898=)
|
rs370324739
|
0.00001
|
NM_001851.6(COL9A1):c.2711C>G (p.Ala904Gly)
|
rs1028844209
|
0.00001
|
NM_001851.6(COL9A1):c.2723T>C (p.Met908Thr)
|
rs1412263011
|
0.00001
|
NM_001851.6(COL9A1):c.2737C>T (p.Arg913Ter)
|
rs145221543
|
0.00001
|
NM_001851.6(COL9A1):c.285C>T (p.Phe95=)
|
rs1226347511
|
0.00001
|
NM_001851.6(COL9A1):c.300-17T>C
|
rs756874626
|
0.00001
|
NM_001851.6(COL9A1):c.300-19A>G
|
rs778535269
|
0.00001
|
NM_001851.6(COL9A1):c.300-8T>G
|
rs1402665528
|
0.00001
|
NM_001851.6(COL9A1):c.317G>A (p.Gly106Glu)
|
rs142447527
|
0.00001
|
NM_001851.6(COL9A1):c.340T>G (p.Leu114Val)
|
rs769945785
|
0.00001
|
NM_001851.6(COL9A1):c.347C>T (p.Thr116Met)
|
rs768503089
|
0.00001
|
NM_001851.6(COL9A1):c.357G>T (p.Met119Ile)
|
rs753433014
|
0.00001
|
NM_001851.6(COL9A1):c.403G>A (p.Asp135Asn)
|
rs774360157
|
0.00001
|
NM_001851.6(COL9A1):c.410C>T (p.Ser137Phe)
|
rs1773776302
|
0.00001
|
NM_001851.6(COL9A1):c.437T>G (p.Ile146Ser)
|
rs780230984
|
0.00001
|
NM_001851.6(COL9A1):c.441T>G (p.Asn147Lys)
|
rs375575411
|
0.00001
|
NM_001851.6(COL9A1):c.456T>C (p.Ser152=)
|
rs757899425
|
0.00001
|
NM_001851.6(COL9A1):c.503C>G (p.Ala168Gly)
|
rs199822035
|
0.00001
|
NM_001851.6(COL9A1):c.522C>T (p.Ser174=)
|
rs757811518
|
0.00001
|
NM_001851.6(COL9A1):c.531T>C (p.Asp177=)
|
rs754428636
|
0.00001
|
NM_001851.6(COL9A1):c.558C>T (p.Gly186=)
|
rs190204582
|
0.00001
|
NM_001851.6(COL9A1):c.567G>T (p.Arg189Ser)
|
rs1296736202
|
0.00001
|
NM_001851.6(COL9A1):c.578C>T (p.Thr193Ile)
|
rs1366088068
|
0.00001
|
NM_001851.6(COL9A1):c.604G>A (p.Glu202Lys)
|
rs779384045
|
0.00001
|
NM_001851.6(COL9A1):c.621G>A (p.Lys207=)
|
rs374217818
|
0.00001
|
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys)
|
rs571441243
|
0.00001
|
NM_001851.6(COL9A1):c.696+20C>T
|
rs1204924376
|
0.00001
|
NM_001851.6(COL9A1):c.721C>T (p.His241Tyr)
|
rs762463023
|
0.00001
|
NM_001851.6(COL9A1):c.755G>A (p.Cys252Tyr)
|
rs1001980199
|
0.00001
|
NM_001851.6(COL9A1):c.759T>A (p.His253Gln)
|
rs1264012472
|
0.00001
|
NM_001851.6(COL9A1):c.779C>A (p.Thr260Lys)
|
rs1269362157
|
0.00001
|
NM_001851.6(COL9A1):c.780+19T>C
|
rs991221951
|
0.00001
|
NM_001851.6(COL9A1):c.801+12G>A
|
rs201713797
|
0.00001
|
NM_001851.6(COL9A1):c.801+20T>C
|
rs760139240
|
0.00001
|
NM_001851.6(COL9A1):c.801+9G>C
|
rs1562325729
|
0.00001
|
NM_001851.6(COL9A1):c.802-20A>G
|
rs372745212
|
0.00001
|
NM_001851.6(COL9A1):c.806G>T (p.Gly269Val)
|
rs752119760
|
0.00001
|
NM_001851.6(COL9A1):c.809C>A (p.Pro270His)
|
rs1032154290
|
0.00001
|
NM_001851.6(COL9A1):c.876C>T (p.Asp292=)
|
rs199570724
|
0.00001
|
NM_001851.6(COL9A1):c.877G>A (p.Gly293Ser)
|
rs780415209
|
0.00001
|
NM_001851.6(COL9A1):c.88+1G>A
|
rs377760437
|
0.00001
|
NM_001851.6(COL9A1):c.88+7G>C
|
rs755501266
|
0.00001
|
NM_001851.6(COL9A1):c.88A>G (p.Arg30Gly)
|
rs375052968
|
0.00001
|
NM_001851.6(COL9A1):c.890C>T (p.Pro297Leu)
|
rs746311583
|
0.00001
|
NM_001851.6(COL9A1):c.912G>A (p.Pro304=)
|
rs751410284
|
0.00001
|
NM_001851.6(COL9A1):c.921A>T (p.Ala307=)
|
rs1398982856
|
0.00001
|
NM_001851.6(COL9A1):c.930G>A (p.Pro310=)
|
rs1441320695
|
0.00001
|
NM_001851.6(COL9A1):c.964C>G (p.Pro322Ala)
|
rs1773107843
|
0.00001
|
NM_001851.6(COL9A1):c.968G>T (p.Gly323Val)
|
rs1005971460
|
0.00001
|
NM_001851.6(COL9A1):c.971C>G (p.Ala324Gly)
|
rs750301684
|
0.00001
|
NM_001851.6(COL9A1):c.975+13G>A
|
rs886999008
|
0.00001
|
NM_001851.6(COL9A1):c.976-14T>C
|
rs759269039
|
0.00001
|
NM_001851.6(COL9A1):c.999C>T (p.Ser333=)
|
rs1034787678
|
0.00001
|
GRCh37/hg19 6q13(chr6:71000209-71059571)x3
|
|
|
NC_000006.11:g.(?_70926600)_(70973020_?)del
|
|
|
NC_000006.11:g.(?_70926600)_(70993543_?)del
|
|
|
NC_000006.11:g.(?_71011684)_(71012627_?)del
|
|
|
NC_000006.12:g.70255204dup
|
rs2127576931
|
|
NC_000006.12:g.70281005GGGGGGCCC[3]
|
rs747511400
|
|
NM_001851.6(COL9A1):c.*241_*242dup
|
rs3215859
|
|
NM_001851.6(COL9A1):c.*242del
|
rs3215859
|
|
NM_001851.6(COL9A1):c.*242dup
|
rs3215859
|
|
NM_001851.6(COL9A1):c.1006T>C (p.Ser336Pro)
|
|
|
NM_001851.6(COL9A1):c.1011T>C (p.Ile337=)
|
rs1772640862
|
|
NM_001851.6(COL9A1):c.1013G>A (p.Gly338Glu)
|
rs778526641
|
|
NM_001851.6(COL9A1):c.1017A>T (p.Ser339=)
|
|
|
NM_001851.6(COL9A1):c.101A>G (p.Asn34Ser)
|
rs919833388
|
|
NM_001851.6(COL9A1):c.1020G>A (p.Lys340=)
|
rs1275426077
|
|
NM_001851.6(COL9A1):c.1029+170del
|
rs201080821
|
|
NM_001851.6(COL9A1):c.1029+17G>A
|
|
|
NM_001851.6(COL9A1):c.1029+17G>T
|
|
|
NM_001851.6(COL9A1):c.1029+19A>G
|
rs893767501
|
|
NM_001851.6(COL9A1):c.1029+3_1029+6del
|
rs1772637811
|
|
NM_001851.6(COL9A1):c.1029+4dup
|
rs2127592864
|
|
NM_001851.6(COL9A1):c.1030-104del
|
rs34897704
|
|
NM_001851.6(COL9A1):c.1030-13T>C
|
|
|
NM_001851.6(COL9A1):c.1030-166del
|
rs35211615
|
|
NM_001851.6(COL9A1):c.1030-16C>G
|
|
|
NM_001851.6(COL9A1):c.1030-17A>G
|
|
|
NM_001851.6(COL9A1):c.1030-20G>A
|
rs16868897
|
|
NM_001851.6(COL9A1):c.1036C>A (p.Pro346Thr)
|
rs779666896
|
|
NM_001851.6(COL9A1):c.1039G>C (p.Gly347Arg)
|
|
|
NM_001851.6(COL9A1):c.1040G>C (p.Gly347Ala)
|
rs764474418
|
|
NM_001851.6(COL9A1):c.1040G>T (p.Gly347Val)
|
rs764474418
|
|
NM_001851.6(COL9A1):c.1042G>A (p.Val348Met)
|
|
|
NM_001851.6(COL9A1):c.1052C>A (p.Ser351Ter)
|
rs201035486
|
|
NM_001851.6(COL9A1):c.1052C>T (p.Ser351Leu)
|
|
|
NM_001851.6(COL9A1):c.1059A>G (p.Gly353=)
|
rs2127592358
|
|
NM_001851.6(COL9A1):c.1065+11G>A
|
|
|
NM_001851.6(COL9A1):c.1065+16G>T
|
|
|
NM_001851.6(COL9A1):c.1065+74TATT[10]
|
rs71309305
|
|
NM_001851.6(COL9A1):c.1065+74TATT[11]
|
rs71309305
|
|
NM_001851.6(COL9A1):c.1065+74TATT[5]
|
rs71309305
|
|
NM_001851.6(COL9A1):c.1065+74TATT[7]
|
rs71309305
|
|
NM_001851.6(COL9A1):c.1065+74TATT[9]
|
rs71309305
|
|
NM_001851.6(COL9A1):c.1065+74_1065+75insTTTTTTTATTTA
|
rs763708723
|
|
NM_001851.6(COL9A1):c.1066-14T>A
|
|
|
NM_001851.6(COL9A1):c.1066-18T>C
|
|
|
NM_001851.6(COL9A1):c.1066-1G>T
|
|
|
NM_001851.6(COL9A1):c.1066-238del
|
rs34456949
|
|
NM_001851.6(COL9A1):c.1068C>A (p.Gly356=)
|
|
|
NM_001851.6(COL9A1):c.1069C>T (p.Arg357Cys)
|
|
|
NM_001851.6(COL9A1):c.1071_1072inv (p.Gly358Ser)
|
|
|
NM_001851.6(COL9A1):c.1083A>C (p.Gly361=)
|
rs1174463957
|
|
NM_001851.6(COL9A1):c.1083A>G (p.Gly361=)
|
rs1174463957
|
|
NM_001851.6(COL9A1):c.1084C>T (p.Pro362Ser)
|
|
|
NM_001851.6(COL9A1):c.1085C>G (p.Pro362Arg)
|
rs374255811
|
|
NM_001851.6(COL9A1):c.1085C>T (p.Pro362Leu)
|
rs374255811
|
|
NM_001851.6(COL9A1):c.1089+173_1089+176del
|
rs746896336
|
|
NM_001851.6(COL9A1):c.1089+18A>G
|
|
|
NM_001851.6(COL9A1):c.1089T>C (p.Pro363=)
|
|
|
NM_001851.6(COL9A1):c.1090-13T>G
|
rs2127590831
|
|
NM_001851.6(COL9A1):c.1090-5T>C
|
|
|
NM_001851.6(COL9A1):c.1091G>A (p.Gly364Asp)
|
|
|
NM_001851.6(COL9A1):c.1093C>T (p.Pro365Ser)
|
rs2127590823
|
|
NM_001851.6(COL9A1):c.1101G>A (p.Gly367=)
|
rs781559365
|
|
NM_001851.6(COL9A1):c.1102A>G (p.Thr368Ala)
|
rs1421369706
|
|
NM_001851.6(COL9A1):c.1104A>T (p.Thr368=)
|
rs1458754255
|
|
NM_001851.6(COL9A1):c.1113C>A (p.Leu371=)
|
rs1298969461
|
|
NM_001851.6(COL9A1):c.111T>C (p.Ser37=)
|
|
|
NM_001851.6(COL9A1):c.1124T>C (p.Leu375Pro)
|
rs1405862928
|
|
NM_001851.6(COL9A1):c.1129C>T (p.Arg377Cys)
|
|
|
NM_001851.6(COL9A1):c.1134A>G (p.Val378=)
|
|
|
NM_001851.6(COL9A1):c.1141G>C (p.Val381Leu)
|
|
|
NM_001851.6(COL9A1):c.1143+10A>C
|
|
|
NM_001851.6(COL9A1):c.1143+13G>A
|
|
|
NM_001851.6(COL9A1):c.1143+14T>C
|
rs1562317487
|
|
NM_001851.6(COL9A1):c.1143+14T>G
|
rs1562317487
|
|
NM_001851.6(COL9A1):c.1143+14_1143+15insACTTGATA
|
|
|
NM_001851.6(COL9A1):c.1143+1G>A
|
rs1490405035
|
|
NM_001851.6(COL9A1):c.1189G>A (p.Gly397Arg)
|
|
|
NM_001851.6(COL9A1):c.1197+11T>G
|
|
|
NM_001851.6(COL9A1):c.1197+15G>T
|
|
|
NM_001851.6(COL9A1):c.1197+18T>G
|
|
|
NM_001851.6(COL9A1):c.1197+19G>C
|
|
|
NM_001851.6(COL9A1):c.1198-10T>C
|
|
|
NM_001851.6(COL9A1):c.1198-1G>C
|
|
|
NM_001851.6(COL9A1):c.1198-223G>A
|
rs6914074
|
|
NM_001851.6(COL9A1):c.1198-6_1198-2del
|
rs2127589264
|
|
NM_001851.6(COL9A1):c.1204A>C (p.Ile402Leu)
|
rs2127589256
|
|
NM_001851.6(COL9A1):c.1205T>C (p.Ile402Thr)
|
|
|
NM_001851.6(COL9A1):c.1215T>C (p.His405=)
|
rs1772265133
|
|
NM_001851.6(COL9A1):c.1218T>G (p.Asp406Glu)
|
rs909640170
|
|
NM_001851.6(COL9A1):c.1220G>A (p.Gly407Glu)
|
|
|
NM_001851.6(COL9A1):c.1225C>A (p.Pro409Thr)
|
rs924516350
|
|
NM_001851.6(COL9A1):c.1230+12_1230+13delinsCT
|
|
|
NM_001851.6(COL9A1):c.1230+20A>G
|
|
|
NM_001851.6(COL9A1):c.1230+53C>A
|
rs549742
|
|
NM_001851.6(COL9A1):c.1230+53C>T
|
rs549742
|
|
NM_001851.6(COL9A1):c.1230+5G>C
|
rs990543556
|
|
NM_001851.6(COL9A1):c.1230+7T>C
|
|
|
NM_001851.6(COL9A1):c.1231-13C>T
|
|
|
NM_001851.6(COL9A1):c.1231-17C>G
|
|
|
NM_001851.6(COL9A1):c.1231-17C>T
|
|
|
NM_001851.6(COL9A1):c.1231-20G>T
|
|
|
NM_001851.6(COL9A1):c.1231-8C>G
|
|
|
NM_001851.6(COL9A1):c.1231-9C>T
|
|
|
NM_001851.6(COL9A1):c.1232G>A (p.Cys411Tyr)
|
|
|
NM_001851.6(COL9A1):c.1234C>T (p.Pro412Ser)
|
rs2127588500
|
|
NM_001851.6(COL9A1):c.123T>A (p.Asn41Lys)
|
rs905464646
|
|
NM_001851.6(COL9A1):c.1240G>T (p.Ala414Ser)
|
rs1772210895
|
|
NM_001851.6(COL9A1):c.1245T>C (p.Cys415=)
|
|
|
NM_001851.6(COL9A1):c.1246C>A (p.Pro416Thr)
|
|
|
NM_001851.6(COL9A1):c.1247C>T (p.Pro416Leu)
|
|
|
NM_001851.6(COL9A1):c.1251A>G (p.Pro417=)
|
|
|
NM_001851.6(COL9A1):c.1252G>A (p.Gly418Ser)
|
|
|
NM_001851.6(COL9A1):c.1257C>T (p.Arg419=)
|
rs1772207548
|
|
NM_001851.6(COL9A1):c.1263A>T (p.Gly421=)
|
|
|
NM_001851.6(COL9A1):c.1266T>A (p.Tyr422Ter)
|
rs868122313
|
|
NM_001851.6(COL9A1):c.1276C>T (p.Pro426Ser)
|
|
|
NM_001851.6(COL9A1):c.1279G>A (p.Gly427Ser)
|
rs2127588403
|
|
NM_001851.6(COL9A1):c.1287+16C>T
|
|
|
NM_001851.6(COL9A1):c.1287+2T>C
|
|
|
NM_001851.6(COL9A1):c.1287+5G>A
|
|
|
NM_001851.6(COL9A1):c.1287+7G>C
|
|
|
NM_001851.6(COL9A1):c.1287+7G>T
|
rs750833333
|
|
NM_001851.6(COL9A1):c.1287+8A>G
|
|
|
NM_001851.6(COL9A1):c.1288-117A>G
|
rs3818575
|
|
NM_001851.6(COL9A1):c.1290T>C (p.Gly430=)
|
|
|
NM_001851.6(COL9A1):c.1308A>G (p.Gly436=)
|
rs375192821
|
|
NM_001851.6(COL9A1):c.1312A>G (p.Ile438Val)
|
rs138518556
|
|
NM_001851.6(COL9A1):c.1326A>G (p.Gly442=)
|
rs2127586252
|
|
NM_001851.6(COL9A1):c.1336C>T (p.His446Tyr)
|
|
|
NM_001851.6(COL9A1):c.1341+18T>G
|
rs1772039300
|
|
NM_001851.6(COL9A1):c.1341+20A>T
|
rs2127586199
|
|
NM_001851.6(COL9A1):c.1341+2T>C
|
|
|
NM_001851.6(COL9A1):c.1341+4A>G
|
rs1772040993
|
|
NM_001851.6(COL9A1):c.1342-11_1342-3del
|
rs774856588
|
|
NM_001851.6(COL9A1):c.1342-14T>C
|
|
|
NM_001851.6(COL9A1):c.1342-14dup
|
rs537445397
|
|
NM_001851.6(COL9A1):c.1342-15C>T
|
|
|
NM_001851.6(COL9A1):c.1342-16dup
|
rs759288929
|
|
NM_001851.6(COL9A1):c.1342-18T>C
|
|
|
NM_001851.6(COL9A1):c.1342-18_1342-16del
|
rs759288929
|
|
NM_001851.6(COL9A1):c.1342-27C>T
|
rs77621199
|
|
NM_001851.6(COL9A1):c.1342-27CTTTT[3]
|
rs543377381
|
|
NM_001851.6(COL9A1):c.1342-6C>T
|
|
|
NM_001851.6(COL9A1):c.1342-9T>C
|
|
|
NM_001851.6(COL9A1):c.1352G>A (p.Gly451Asp)
|
rs1771811070
|
|
NM_001851.6(COL9A1):c.1353T>C (p.Gly451=)
|
|
|
NM_001851.6(COL9A1):c.1355A>G (p.Asp452Gly)
|
rs2127583225
|
|
NM_001851.6(COL9A1):c.135A>G (p.Pro45=)
|
rs750588718
|
|
NM_001851.6(COL9A1):c.1365A>T (p.Glu455Asp)
|
rs1468996914
|
|
NM_001851.6(COL9A1):c.1391C>A (p.Pro464His)
|
rs1554240668
|
|
NM_001851.6(COL9A1):c.1395+133C>T
|
rs12194091
|
|
NM_001851.6(COL9A1):c.1395+15A>T
|
|
|
NM_001851.6(COL9A1):c.1395+20del
|
rs769058356
|
|
NM_001851.6(COL9A1):c.1396-138TA[7]
|
rs561603196
|
|
NM_001851.6(COL9A1):c.1396-19C>A
|
|
|
NM_001851.6(COL9A1):c.1396-19_1396-15del
|
|
|
NM_001851.6(COL9A1):c.1396-6T>C
|
rs1360782538
|
|
NM_001851.6(COL9A1):c.1396-88T>C
|
rs12210870
|
|
NM_001851.6(COL9A1):c.14+13C>G
|
|
|
NM_001851.6(COL9A1):c.14+1G>C
|
|
|
NM_001851.6(COL9A1):c.14+9A>C
|
rs747649242
|
|
NM_001851.6(COL9A1):c.1403A>T (p.Gln468Leu)
|
|
|
NM_001851.6(COL9A1):c.140T>C (p.Ile47Thr)
|
rs1774015865
|
|
NM_001851.6(COL9A1):c.1414G>A (p.Gly472Ser)
|
|
|
NM_001851.6(COL9A1):c.1418T>C (p.Ile473Thr)
|
|
|
NM_001851.6(COL9A1):c.1422C>T (p.Thr474=)
|
rs540419799
|
|
NM_001851.6(COL9A1):c.1427_1449+17dup
|
|
|
NM_001851.6(COL9A1):c.1430T>C (p.Val477Ala)
|
|
|
NM_001851.6(COL9A1):c.1449+108del
|
rs34147259
|
|
NM_001851.6(COL9A1):c.1449+10T>A
|
|
|
NM_001851.6(COL9A1):c.1449+11G>A
|
|
|
NM_001851.6(COL9A1):c.1449+11G>C
|
|
|
NM_001851.6(COL9A1):c.1449+19T>C
|
|
|
NM_001851.6(COL9A1):c.1449+91dup
|
rs34147259
|
|
NM_001851.6(COL9A1):c.1450-15C>T
|
|
|
NM_001851.6(COL9A1):c.1450-228A>T
|
rs1711728
|
|
NM_001851.6(COL9A1):c.1450-229_1450-228del
|
rs542296705
|
|
NM_001851.6(COL9A1):c.1450-231_1450-228del
|
rs542296705
|
|
NM_001851.6(COL9A1):c.1450-232_1450-228del
|
rs542296705
|
|
NM_001851.6(COL9A1):c.1450-255dup
|
rs542296705
|
|
NM_001851.6(COL9A1):c.1450-4G>A
|
|
|
NM_001851.6(COL9A1):c.1450-4G>T
|
|
|
NM_001851.6(COL9A1):c.1450-5dup
|
rs751315083
|
|
NM_001851.6(COL9A1):c.1450G>A (p.Gly484Ser)
|
rs1771329366
|
|
NM_001851.6(COL9A1):c.1456C>T (p.Arg486Trp)
|
rs752641733
|
|
NM_001851.6(COL9A1):c.1457G>A (p.Arg486Gln)
|
|
|
NM_001851.6(COL9A1):c.1467T>C (p.Asp489=)
|
|
|
NM_001851.6(COL9A1):c.1474C>A (p.Pro492Thr)
|
|
|
NM_001851.6(COL9A1):c.1475C>T (p.Pro492Leu)
|
|
|
NM_001851.6(COL9A1):c.1486G>C (p.Gly496Arg)
|
|
|
NM_001851.6(COL9A1):c.1494T>A (p.Pro498=)
|
|
|
NM_001851.6(COL9A1):c.1498G>A (p.Ala500Thr)
|
|
|
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter)
|
rs770789859
|
|
NM_001851.6(COL9A1):c.15-131del
|
rs202054376
|
|
NM_001851.6(COL9A1):c.15-132_15-131del
|
rs202054376
|
|
NM_001851.6(COL9A1):c.15-139_15-131del
|
rs202054376
|
|
NM_001851.6(COL9A1):c.15-153_15-149dup
|
rs202054376
|
|
NM_001851.6(COL9A1):c.15-153_15-152dup
|
rs202054376
|
|
NM_001851.6(COL9A1):c.15-153dup
|
rs202054376
|
|
NM_001851.6(COL9A1):c.15-2A>T
|
|
|
NM_001851.6(COL9A1):c.15-5T>C
|
|
|
NM_001851.6(COL9A1):c.1503+37dup
|
rs34557832
|
|
NM_001851.6(COL9A1):c.1503+49del
|
rs34557832
|
|
NM_001851.6(COL9A1):c.1503+6T>C
|
|
|
NM_001851.6(COL9A1):c.1504-17A>G
|
|
|
NM_001851.6(COL9A1):c.1504-17A>T
|
rs1771216881
|
|
NM_001851.6(COL9A1):c.1504G>C (p.Gly502Arg)
|
rs774226488
|
|
NM_001851.6(COL9A1):c.1505G>T (p.Gly502Val)
|
rs376101677
|
|
NM_001851.6(COL9A1):c.1508A>G (p.Asp503Gly)
|
|
|
NM_001851.6(COL9A1):c.1519C>A (p.Arg507=)
|
rs189754995
|
|
NM_001851.6(COL9A1):c.1520G>A (p.Arg507Gln)
|
rs777963373
|
|
NM_001851.6(COL9A1):c.1530A>G (p.Pro510=)
|
rs770038405
|
|
NM_001851.6(COL9A1):c.1538C>T (p.Ala513Val)
|
rs1221404677
|
|
NM_001851.6(COL9A1):c.153A>G (p.Gln51=)
|
|
|
NM_001851.6(COL9A1):c.1546A>G (p.Lys516Glu)
|
rs1064796345
|
|
NM_001851.6(COL9A1):c.1557+12T>G
|
|
|
NM_001851.6(COL9A1):c.1558-11C>T
|
|
|
NM_001851.6(COL9A1):c.1558-13T>A
|
|
|
NM_001851.6(COL9A1):c.1558-5T>C
|
|
|
NM_001851.6(COL9A1):c.1558-7C>T
|
|
|
NM_001851.6(COL9A1):c.1559G>A (p.Gly520Glu)
|
|
|
NM_001851.6(COL9A1):c.155A>T (p.Asp52Val)
|
rs886044243
|
|
NM_001851.6(COL9A1):c.1560G>T (p.Gly520=)
|
|
|
NM_001851.6(COL9A1):c.1562C>A (p.Ala521Asp)
|
|
|
NM_001851.6(COL9A1):c.1586G>A (p.Gly529Asp)
|
|
|
NM_001851.6(COL9A1):c.1599C>T (p.Pro533=)
|
|
|
NM_001851.6(COL9A1):c.15G>T (p.Trp5Cys)
|
rs746596955
|
|
NM_001851.6(COL9A1):c.1611+12G>A
|
|
|
NM_001851.6(COL9A1):c.1611+12G>C
|
|
|
NM_001851.6(COL9A1):c.1611+6T>C
|
rs1771197044
|
|
NM_001851.6(COL9A1):c.1612-12G>A
|
|
|
NM_001851.6(COL9A1):c.1612-17T>C
|
|
|
NM_001851.6(COL9A1):c.1612-6G>A
|
|
|
NM_001851.6(COL9A1):c.1617G>T (p.Leu539Phe)
|
|
|
NM_001851.6(COL9A1):c.1618C>T (p.Pro540Ser)
|
|
|
NM_001851.6(COL9A1):c.1622G>A (p.Gly541Asp)
|
rs755767798
|
|
NM_001851.6(COL9A1):c.1623dup (p.Val542fs)
|
|
|
NM_001851.6(COL9A1):c.1627G>C (p.Asp543His)
|
rs1771186677
|
|
NM_001851.6(COL9A1):c.163C>T (p.Pro55Ser)
|
rs1489422710
|
|
NM_001851.6(COL9A1):c.1640G>A (p.Gly547Glu)
|
rs1427326341
|
|
NM_001851.6(COL9A1):c.1640G>T (p.Gly547Val)
|
|
|
NM_001851.6(COL9A1):c.166+18C>A
|
|
|
NM_001851.6(COL9A1):c.166+3G>A
|
|
|
NM_001851.6(COL9A1):c.166+50dup
|
rs371900114
|
|
NM_001851.6(COL9A1):c.166+60del
|
rs371900114
|
|
NM_001851.6(COL9A1):c.166+7A>G
|
rs2127608476
|
|
NM_001851.6(COL9A1):c.166+8G>A
|
|
|
NM_001851.6(COL9A1):c.1665+13A>T
|
rs748805630
|
|
NM_001851.6(COL9A1):c.1666-16A>G
|
rs2127576389
|
|
NM_001851.6(COL9A1):c.1666-5dup
|
|
|
NM_001851.6(COL9A1):c.1668_1671dup (p.Pro558Ter)
|
rs2127576361
|
|
NM_001851.6(COL9A1):c.1668del (p.Glu557fs)
|
|
|
NM_001851.6(COL9A1):c.167-9A>T
|
rs367635142
|
|
NM_001851.6(COL9A1):c.1673C>T (p.Pro558Leu)
|
|
|
NM_001851.6(COL9A1):c.167G>A (p.Gly56Glu)
|
rs2127608373
|
|
NM_001851.6(COL9A1):c.1692dup (p.Gly565fs)
|
|
|
NM_001851.6(COL9A1):c.1695T>C (p.Gly565=)
|
|
|
NM_001851.6(COL9A1):c.1697A>T (p.Asp566Val)
|
|
|
NM_001851.6(COL9A1):c.1707G>A (p.Leu569=)
|
|
|
NM_001851.6(COL9A1):c.1708C>T (p.Gln570Ter)
|
rs1562305261
|
|
NM_001851.6(COL9A1):c.1714T>C (p.Leu572=)
|
|
|
NM_001851.6(COL9A1):c.1719+11G>A
|
|
|
NM_001851.6(COL9A1):c.1719+11G>T
|
|
|
NM_001851.6(COL9A1):c.1719+15C>A
|
|
|
NM_001851.6(COL9A1):c.1719+19A>T
|
|
|
NM_001851.6(COL9A1):c.1719+20C>T
|
rs2127576297
|
|
NM_001851.6(COL9A1):c.1719+3A>G
|
|
|
NM_001851.6(COL9A1):c.171del (p.Phe57fs)
|
rs1554248926
|
|
NM_001851.6(COL9A1):c.1720-2A>G
|
|
|
NM_001851.6(COL9A1):c.1720-3T>C
|
|
|
NM_001851.6(COL9A1):c.1723G>A (p.Val575Ile)
|
|
|
NM_001851.6(COL9A1):c.1724T>C (p.Val575Ala)
|
|
|
NM_001851.6(COL9A1):c.1728T>A (p.Pro576=)
|
rs9346373
|
|
NM_001851.6(COL9A1):c.1728T>C (p.Pro576=)
|
|
|
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=)
|
rs9346373
|
|
NM_001851.6(COL9A1):c.1730G>T (p.Gly577Val)
|
rs1771075075
|
|
NM_001851.6(COL9A1):c.1749T>A (p.Gly583=)
|
|
|
NM_001851.6(COL9A1):c.1751T>C (p.Val584Ala)
|
|
|
NM_001851.6(COL9A1):c.175C>A (p.Leu59Met)
|
rs151310170
|
|
NM_001851.6(COL9A1):c.175C>T (p.Leu59=)
|
rs151310170
|
|
NM_001851.6(COL9A1):c.1760A>G (p.Glu587Gly)
|
rs2127575414
|
|
NM_001851.6(COL9A1):c.1764+15A>C
|
|
|
NM_001851.6(COL9A1):c.1764+7T>C
|
|
|
NM_001851.6(COL9A1):c.1765-11T>G
|
rs2127574645
|
|
NM_001851.6(COL9A1):c.1765-13A>T
|
|
|
NM_001851.6(COL9A1):c.1765-16T>C
|
|
|
NM_001851.6(COL9A1):c.1765-21G>A
|
rs2274584
|
|
NM_001851.6(COL9A1):c.1765-21_1765-20delinsAG
|
rs2127574655
|
|
NM_001851.6(COL9A1):c.1765-5C>T
|
rs1770995491
|
|
NM_001851.6(COL9A1):c.1765-6C>T
|
rs750146995
|
|
NM_001851.6(COL9A1):c.1765G>A (p.Gly589Ser)
|
|
|
NM_001851.6(COL9A1):c.1771A>G (p.Thr591Ala)
|
rs1348618819
|
|
NM_001851.6(COL9A1):c.1778C>G (p.Ala593Gly)
|
|
|
NM_001851.6(COL9A1):c.1782A>G (p.Pro594=)
|
|
|
NM_001851.6(COL9A1):c.1788G>C (p.Lys596Asn)
|
|
|
NM_001851.6(COL9A1):c.1803A>G (p.Gly601=)
|
rs936178403
|
|
NM_001851.6(COL9A1):c.1807T>A (p.Ser603Thr)
|
rs1398491945
|
|
NM_001851.6(COL9A1):c.1808C>T (p.Ser603Leu)
|
rs2127574590
|
|
NM_001851.6(COL9A1):c.1811G>A (p.Gly604Asp)
|
|
|
NM_001851.6(COL9A1):c.1812C>T (p.Gly604=)
|
|
|
NM_001851.6(COL9A1):c.1817del (p.Pro606fs)
|
rs769918278
|
|
NM_001851.6(COL9A1):c.1818+10C>T
|
|
|
NM_001851.6(COL9A1):c.1818+12T>G
|
|
|
NM_001851.6(COL9A1):c.1818+19del
|
rs1562303489
|
|
NM_001851.6(COL9A1):c.1819-10C>G
|
|
|
NM_001851.6(COL9A1):c.1819-11C>A
|
|
|
NM_001851.6(COL9A1):c.1819-15C>A
|
|
|
NM_001851.6(COL9A1):c.1830G>A (p.Gly610=)
|
rs1414945380
|
|
NM_001851.6(COL9A1):c.1830G>T (p.Gly610=)
|
rs1414945380
|
|
NM_001851.6(COL9A1):c.1836A>G (p.Pro612=)
|
|
|
NM_001851.6(COL9A1):c.1838G>A (p.Gly613Glu)
|
rs886044124
|
|
NM_001851.6(COL9A1):c.1847G>C (p.Gly616Ala)
|
rs1562303379
|
|
NM_001851.6(COL9A1):c.1859C>T (p.Pro620Leu)
|
|
|
NM_001851.6(COL9A1):c.1860C>T (p.Pro620=)
|
rs2127574450
|
|
NM_001851.6(COL9A1):c.1861_1862inv (p.Gln621Trp)
|
|
|
NM_001851.6(COL9A1):c.186G>C (p.Gln62His)
|
|
|
NM_001851.6(COL9A1):c.1872+15C>A
|
|
|
NM_001851.6(COL9A1):c.1872+15C>T
|
rs2127574422
|
|
NM_001851.6(COL9A1):c.1872+20C>T
|
|
|
NM_001851.6(COL9A1):c.1873-15T>C
|
rs1256564368
|
|
NM_001851.6(COL9A1):c.1873-16G>A
|
rs1770344577
|
|
NM_001851.6(COL9A1):c.1873-1G>C
|
|
|
NM_001851.6(COL9A1):c.1877del (p.Ser626fs)
|
rs2127566670
|
|
NM_001851.6(COL9A1):c.1878T>C (p.Ser626=)
|
|
|
NM_001851.6(COL9A1):c.1889T>G (p.Leu630Ter)
|
|
|
NM_001851.6(COL9A1):c.188del (p.Phe63fs)
|
rs1057519130
|
|
NM_001851.6(COL9A1):c.1898T>G (p.Val633Gly)
|
|
|
NM_001851.6(COL9A1):c.1904C>A (p.Ser635Tyr)
|
rs2127566645
|
|
NM_001851.6(COL9A1):c.190C>T (p.Gln64Ter)
|
|
|
NM_001851.6(COL9A1):c.1912C>T (p.Leu638=)
|
rs1012515482
|
|
NM_001851.6(COL9A1):c.1925T>A (p.Leu642Gln)
|
rs1357867750
|
|
NM_001851.6(COL9A1):c.1926+13G>T
|
rs1184031446
|
|
NM_001851.6(COL9A1):c.1926+6T>C
|
rs372289111
|
|
NM_001851.6(COL9A1):c.1927-13T>C
|
|
|
NM_001851.6(COL9A1):c.1927-1G>A
|
|
|
NM_001851.6(COL9A1):c.1933C>T (p.Leu645=)
|
|
|
NM_001851.6(COL9A1):c.1933del (p.Leu645fs)
|
rs2127565932
|
|
NM_001851.6(COL9A1):c.1942C>G (p.Pro648Ala)
|
|
|
NM_001851.6(COL9A1):c.1942C>T (p.Pro648Ser)
|
|
|
NM_001851.6(COL9A1):c.1948C>T (p.Leu650Phe)
|
rs1269618884
|
|
NM_001851.6(COL9A1):c.1952C>A (p.Pro651His)
|
rs139305174
|
|
NM_001851.6(COL9A1):c.1956C>T (p.Gly652=)
|
|
|
NM_001851.6(COL9A1):c.1956_1964del (p.650LPG[1])
|
rs777456489
|
|
NM_001851.6(COL9A1):c.1963G>T (p.Gly655Trp)
|
rs2127565874
|
|
NM_001851.6(COL9A1):c.1965G>A (p.Gly655=)
|
|
|
NM_001851.6(COL9A1):c.1965dup (p.Pro656fs)
|
rs1064797325
|
|
NM_001851.6(COL9A1):c.1966C>A (p.Pro656Thr)
|
rs773476642
|
|
NM_001851.6(COL9A1):c.1970dup (p.Gly658fs)
|
rs1322800124
|
|
NM_001851.6(COL9A1):c.1976T>G (p.Leu659Arg)
|
rs1770287143
|
|
NM_001851.6(COL9A1):c.198T>C (p.Asp66=)
|
rs1470852189
|
|
NM_001851.6(COL9A1):c.1995C>T (p.Asp665=)
|
|
|
NM_001851.6(COL9A1):c.1997G>A (p.Arg666Lys)
|
rs1425493186
|
|
NM_001851.6(COL9A1):c.1999-12T>G
|
|
|
NM_001851.6(COL9A1):c.1999-13T>C
|
|
|
NM_001851.6(COL9A1):c.1999-17T>C
|
|
|
NM_001851.6(COL9A1):c.1999-17del
|
|
|
NM_001851.6(COL9A1):c.1999-20T>G
|
|
|
NM_001851.6(COL9A1):c.1999-3C>T
|
rs886061697
|
|
NM_001851.6(COL9A1):c.1999-7A>G
|
|
|
NM_001851.6(COL9A1):c.2002G>A (p.Val668Ile)
|
|
|
NM_001851.6(COL9A1):c.2015_2032del (p.Pro672_Glu677del)
|
rs2127565324
|
|
NM_001851.6(COL9A1):c.2017G>A (p.Gly673Ser)
|
|
|
NM_001851.6(COL9A1):c.2034+11T>C
|
|
|
NM_001851.6(COL9A1):c.2034+13_2034+15del
|
rs746643692
|
|
NM_001851.6(COL9A1):c.2034+14T>C
|
rs768557935
|
|
NM_001851.6(COL9A1):c.2034+18A>C
|
|
|
NM_001851.6(COL9A1):c.2034+19T>C
|
rs13202029
|
|
NM_001851.6(COL9A1):c.2034+19T>G
|
rs13202029
|
|
NM_001851.6(COL9A1):c.2034+1G>C
|
|
|
NM_001851.6(COL9A1):c.2034+20T>C
|
rs2127565309
|
|
NM_001851.6(COL9A1):c.2034+243C>G
|
rs77858709
|
|
NM_001851.6(COL9A1):c.2035-161del
|
rs11286026
|
|
NM_001851.6(COL9A1):c.2035-6T>A
|
rs1770205046
|
|
NM_001851.6(COL9A1):c.2035-8A>C
|
|
|
NM_001851.6(COL9A1):c.2036G>A (p.Gly679Asp)
|
rs2127564614
|
|
NM_001851.6(COL9A1):c.2039C>G (p.Ala680Gly)
|
rs1036563613
|
|
NM_001851.6(COL9A1):c.2039C>T (p.Ala680Val)
|
|
|
NM_001851.6(COL9A1):c.2040C>G (p.Ala680=)
|
rs1483676538
|
|
NM_001851.6(COL9A1):c.2059G>T (p.Ala687Ser)
|
|
|
NM_001851.6(COL9A1):c.2068del (p.Arg690fs)
|
|
|
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=)
|
rs557157592
|
|
NM_001851.6(COL9A1):c.2076A>T (p.Glu692Asp)
|
rs557157592
|
|
NM_001851.6(COL9A1):c.2079+11T>C
|
|
|
NM_001851.6(COL9A1):c.2079+16del
|
rs552585742
|
|
NM_001851.6(COL9A1):c.2079+59TA[7]
|
rs10686639
|
|
NM_001851.6(COL9A1):c.2079+7dup
|
rs552585742
|
|
NM_001851.6(COL9A1):c.2079+80_2079+81del
|
rs200426063
|
|
NM_001851.6(COL9A1):c.2079+94_2079+95insTGTATA
|
rs10587444
|
|
NM_001851.6(COL9A1):c.2079+95AT[10]
|
rs57686729
|
|
NM_001851.6(COL9A1):c.2079+95AT[7]
|
rs57686729
|
|
NM_001851.6(COL9A1):c.2080-17T>A
|
|
|
NM_001851.6(COL9A1):c.2087T>C (p.Ile696Thr)
|
rs1562295675
|
|
NM_001851.6(COL9A1):c.2088A>G (p.Ile696Met)
|
rs1770101448
|
|
NM_001851.6(COL9A1):c.2097T>A (p.Pro699=)
|
rs1055153910
|
|
NM_001851.6(COL9A1):c.210T>C (p.Ser70=)
|
|
|
NM_001851.6(COL9A1):c.2112+105dup
|
rs34540808
|
|
NM_001851.6(COL9A1):c.2112+10G>T
|
|
|
NM_001851.6(COL9A1):c.2112+115del
|
rs34540808
|
|
NM_001851.6(COL9A1):c.2112+12G>A
|
|
|
NM_001851.6(COL9A1):c.2112+17G>A
|
|
|
NM_001851.6(COL9A1):c.2112+4A>G
|
|
|
NM_001851.6(COL9A1):c.2112+8T>A
|
rs766377239
|
|
NM_001851.6(COL9A1):c.2113-12A>G
|
rs184749864
|
|
NM_001851.6(COL9A1):c.2121T>A (p.Asn707Lys)
|
rs1197989118
|
|
NM_001851.6(COL9A1):c.2127G>A (p.Gly709=)
|
|
|
NM_001851.6(COL9A1):c.2132C>G (p.Pro711Arg)
|
rs1032780767
|
|
NM_001851.6(COL9A1):c.2136C>T (p.Gly712=)
|
|
|
NM_001851.6(COL9A1):c.2139G>C (p.Leu713Phe)
|
rs886061696
|
|
NM_001851.6(COL9A1):c.2145G>C (p.Gly715=)
|
|
|
NM_001851.6(COL9A1):c.2147C>T (p.Pro716Leu)
|
|
|
NM_001851.6(COL9A1):c.2148T>C (p.Pro716=)
|
|
|
NM_001851.6(COL9A1):c.2159G>T (p.Arg720Leu)
|
rs192467838
|
|
NM_001851.6(COL9A1):c.215G>A (p.Arg72Lys)
|
|
|
NM_001851.6(COL9A1):c.2160G>T (p.Arg720=)
|
|
|
NM_001851.6(COL9A1):c.2162G>T (p.Gly721Val)
|
rs774807480
|
|
NM_001851.6(COL9A1):c.2163G>T (p.Gly721=)
|
|
|
NM_001851.6(COL9A1):c.2169T>A (p.Pro723=)
|
|
|
NM_001851.6(COL9A1):c.2170G>A (p.Gly724Arg)
|
|
|
NM_001851.6(COL9A1):c.2174T>A (p.Val725Glu)
|
|
|
NM_001851.6(COL9A1):c.2174T>C (p.Val725Ala)
|
rs1428416801
|
|
NM_001851.6(COL9A1):c.2175G>A (p.Val725=)
|
|
|
NM_001851.6(COL9A1):c.2177A>G (p.Glu726Gly)
|
|
|
NM_001851.6(COL9A1):c.2183C>G (p.Pro728Arg)
|
|
|
NM_001851.6(COL9A1):c.2183C>T (p.Pro728Leu)
|
rs1029245584
|
|
NM_001851.6(COL9A1):c.2192C>T (p.Pro731Leu)
|
rs1769801422
|
|
NM_001851.6(COL9A1):c.2193_2201del (p.Pro732_Pro734del)
|
rs1769800333
|
|
NM_001851.6(COL9A1):c.2199A>C (p.Gly733=)
|
|
|
NM_001851.6(COL9A1):c.219T>C (p.Ala73=)
|
rs1764020540
|
|
NM_001851.6(COL9A1):c.2203C>G (p.Arg735Gly)
|
rs148695653
|
|
NM_001851.6(COL9A1):c.2203C>T (p.Arg735Trp)
|
rs148695653
|
|
NM_001851.6(COL9A1):c.2205G>A (p.Arg735=)
|
rs1005817817
|
|
NM_001851.6(COL9A1):c.2208T>C (p.Gly736=)
|
|
|
NM_001851.6(COL9A1):c.2209G>T (p.Val737Leu)
|
rs2127559780
|
|
NM_001851.6(COL9A1):c.2225G>A (p.Gly742Asp)
|
rs1206093741
|
|
NM_001851.6(COL9A1):c.2225G>T (p.Gly742Val)
|
|
|
NM_001851.6(COL9A1):c.2232C>A (p.Thr744=)
|
|
|
NM_001851.6(COL9A1):c.2232C>T (p.Thr744=)
|
rs751249539
|
|
NM_001851.6(COL9A1):c.2233G>A (p.Gly745Ser)
|
|
|
NM_001851.6(COL9A1):c.2248C>T (p.Gln750Ter)
|
rs887513791
|
|
NM_001851.6(COL9A1):c.2250G>T (p.Gln750His)
|
|
|
NM_001851.6(COL9A1):c.2253C>A (p.Gly751=)
|
rs753370035
|
|
NM_001851.6(COL9A1):c.2253C>G (p.Gly751=)
|
|
|
NM_001851.6(COL9A1):c.2253C>T (p.Gly751=)
|
rs753370035
|
|
NM_001851.6(COL9A1):c.2255C>A (p.Pro752His)
|
|
|
NM_001851.6(COL9A1):c.2259+11G>A
|
|
|
NM_001851.6(COL9A1):c.2259+11G>C
|
|
|
NM_001851.6(COL9A1):c.2259+17T>G
|
|
|
NM_001851.6(COL9A1):c.2259+8G>C
|
|
|
NM_001851.6(COL9A1):c.2260-1G>A
|
rs1322829123
|
|
NM_001851.6(COL9A1):c.2260-2A>G
|
|
|
NM_001851.6(COL9A1):c.2260-4C>T
|
rs2127559516
|
|
NM_001851.6(COL9A1):c.2260-6T>C
|
rs2127559518
|
|
NM_001851.6(COL9A1):c.226A>G (p.Arg76Gly)
|
rs1774005110
|
|
NM_001851.6(COL9A1):c.2271G>T (p.Pro757=)
|
|
|
NM_001851.6(COL9A1):c.227G>A (p.Arg76Lys)
|
|
|
NM_001851.6(COL9A1):c.2281C>T (p.His761Tyr)
|
|
|
NM_001851.6(COL9A1):c.228A>G (p.Arg76=)
|
|
|
NM_001851.6(COL9A1):c.2302A>G (p.Arg768Gly)
|
rs1191443057
|
|
NM_001851.6(COL9A1):c.2313del (p.Glu772fs)
|
|
|
NM_001851.6(COL9A1):c.2314+10T>C
|
|
|
NM_001851.6(COL9A1):c.2314+13C>T
|
|
|
NM_001851.6(COL9A1):c.2314+17G>A
|
|
|
NM_001851.6(COL9A1):c.2314+227_2314+230dup
|
rs55719911
|
|
NM_001851.6(COL9A1):c.2314+233_2314+234insTTTG
|
rs71771132
|
|
NM_001851.6(COL9A1):c.2314+239_2314+240insTTTTT
|
rs1376237848
|
|
NM_001851.6(COL9A1):c.2314+282AC[10]
|
rs71538408
|
|
NM_001851.6(COL9A1):c.2314+282AC[12]
|
rs71538408
|
|
NM_001851.6(COL9A1):c.2315-12A>C
|
|
|
NM_001851.6(COL9A1):c.2315-13T>A
|
|
|
NM_001851.6(COL9A1):c.2315-15T>C
|
|
|
NM_001851.6(COL9A1):c.2315-186A>C
|
rs642635
|
|
NM_001851.6(COL9A1):c.2315-2A>G
|
|
|
NM_001851.6(COL9A1):c.2315-5T>C
|
|
|
NM_001851.6(COL9A1):c.2316A>G (p.Glu772=)
|
|
|
NM_001851.6(COL9A1):c.2319T>C (p.His773=)
|
|
|
NM_001851.6(COL9A1):c.233T>A (p.Val78Glu)
|
|
|
NM_001851.6(COL9A1):c.2344A>G (p.Lys782Glu)
|
|
|
NM_001851.6(COL9A1):c.2347C>T (p.Arg783Cys)
|
rs1268667358
|
|
NM_001851.6(COL9A1):c.2360G>T (p.Gly787Val)
|
|
|
NM_001851.6(COL9A1):c.2361T>G (p.Gly787=)
|
|
|
NM_001851.6(COL9A1):c.2361_2362del (p.Ala788fs)
|
|
|
NM_001851.6(COL9A1):c.2364dup (p.Thr789fs)
|
rs2127557714
|
|
NM_001851.6(COL9A1):c.2365A>T (p.Thr789Ser)
|
rs373877078
|
|
NM_001851.6(COL9A1):c.2372T>C (p.Leu791Pro)
|
rs1769631044
|
|
NM_001851.6(COL9A1):c.2382G>A (p.Arg794=)
|
|
|
NM_001851.6(COL9A1):c.2395G>T (p.Gly799Cys)
|
rs1769629894
|
|
NM_001851.6(COL9A1):c.2398C>A (p.Pro800Thr)
|
rs527945609
|
|
NM_001851.6(COL9A1):c.2399C>T (p.Pro800Leu)
|
rs775466585
|
|
NM_001851.6(COL9A1):c.2403dup (p.Gly802fs)
|
|
|
NM_001851.6(COL9A1):c.2406C>A (p.Gly802=)
|
rs770705023
|
|
NM_001851.6(COL9A1):c.2407C>T (p.Pro803Ser)
|
|
|
NM_001851.6(COL9A1):c.2412T>G (p.Pro804=)
|
|
|
NM_001851.6(COL9A1):c.2415A>G (p.Gly805=)
|
rs2127557651
|
|
NM_001851.6(COL9A1):c.2439G>A (p.Met813Ile)
|
rs747652928
|
|
NM_001851.6(COL9A1):c.2445T>A (p.Ile815=)
|
|
|
NM_001851.6(COL9A1):c.2447G>A (p.Arg816His)
|
|
|
NM_001851.6(COL9A1):c.2448T>C (p.Arg816=)
|
rs2127557612
|
|
NM_001851.6(COL9A1):c.2451C>A (p.Gly817=)
|
|
|
NM_001851.6(COL9A1):c.2453T>A (p.Leu818His)
|
rs1438856749
|
|
NM_001851.6(COL9A1):c.2454T>C (p.Leu818=)
|
|
|
NM_001851.6(COL9A1):c.2455C>T (p.Pro819Ser)
|
|
|
NM_001851.6(COL9A1):c.2469G>A (p.Gly823=)
|
|
|
NM_001851.6(COL9A1):c.2469G>T (p.Gly823=)
|
|
|
NM_001851.6(COL9A1):c.2489T>C (p.Leu830Ser)
|
|
|
NM_001851.6(COL9A1):c.2492G>A (p.Arg831Lys)
|
rs764624908
|
|
NM_001851.6(COL9A1):c.2495G>T (p.Gly832Val)
|
|
|
NM_001851.6(COL9A1):c.249G>T (p.Leu83Phe)
|
|
|
NM_001851.6(COL9A1):c.2503+17A>C
|
|
|
NM_001851.6(COL9A1):c.2504-13T>C
|
|
|
NM_001851.6(COL9A1):c.2504-17_2504-13del
|
rs2127552815
|
|
NM_001851.6(COL9A1):c.2504-8_2504-4del
|
|
|
NM_001851.6(COL9A1):c.250C>T (p.Gln84Ter)
|
|
|
NM_001851.6(COL9A1):c.251A>G (p.Gln84Arg)
|
|
|
NM_001851.6(COL9A1):c.252G>A (p.Gln84=)
|
rs1208726729
|
|
NM_001851.6(COL9A1):c.252G>T (p.Gln84His)
|
rs1208726729
|
|
NM_001851.6(COL9A1):c.2532C>T (p.Gly844=)
|
|
|
NM_001851.6(COL9A1):c.2546G>A (p.Gly849Asp)
|
rs1769199680
|
|
NM_001851.6(COL9A1):c.2554G>C (p.Gly852Arg)
|
|
|
NM_001851.6(COL9A1):c.2558T>C (p.Leu853Ser)
|
rs886702234
|
|
NM_001851.6(COL9A1):c.2561C>T (p.Pro854Leu)
|
rs761742449
|
|
NM_001851.6(COL9A1):c.2572G>T (p.Gly858Cys)
|
rs1769197490
|
|
NM_001851.6(COL9A1):c.2579C>G (p.Pro860Arg)
|
|
|
NM_001851.6(COL9A1):c.2581+15T>C
|
|
|
NM_001851.6(COL9A1):c.2581+5G>A
|
|
|
NM_001851.6(COL9A1):c.2581+6T>C
|
|
|
NM_001851.6(COL9A1):c.2581+9G>A
|
|
|
NM_001851.6(COL9A1):c.2582-10del
|
|
|
NM_001851.6(COL9A1):c.2582-11G>A
|
rs2127544176
|
|
NM_001851.6(COL9A1):c.2582-11GT[2]
|
|
|
NM_001851.6(COL9A1):c.2582-13C>T
|
|
|
NM_001851.6(COL9A1):c.2582-16C>A
|
|
|
NM_001851.6(COL9A1):c.2582-16C>T
|
|
|
NM_001851.6(COL9A1):c.2583T>G (p.Gly861=)
|
|
|
NM_001851.6(COL9A1):c.2593C>T (p.Pro865Ser)
|
rs1203477719
|
|
NM_001851.6(COL9A1):c.2594C>T (p.Pro865Leu)
|
rs2127544141
|
|
NM_001851.6(COL9A1):c.2596G>A (p.Ala866Thr)
|
|
|
NM_001851.6(COL9A1):c.2597C>A (p.Ala866Asp)
|
|
|
NM_001851.6(COL9A1):c.2605G>C (p.Gly869Arg)
|
rs2127544130
|
|
NM_001851.6(COL9A1):c.2617C>G (p.Arg873Gly)
|
rs200829297
|
|
NM_001851.6(COL9A1):c.2617C>T (p.Arg873Ter)
|
|
|
NM_001851.6(COL9A1):c.2618G>A (p.Arg873Gln)
|
|
|
NM_001851.6(COL9A1):c.2618G>T (p.Arg873Leu)
|
rs201520437
|
|
NM_001851.6(COL9A1):c.2623G>C (p.Gly875Arg)
|
|
|
NM_001851.6(COL9A1):c.2626G>A (p.Glu876Lys)
|
rs2127544097
|
|
NM_001851.6(COL9A1):c.2626G>C (p.Glu876Gln)
|
rs2127544097
|
|
NM_001851.6(COL9A1):c.2628G>T (p.Glu876Asp)
|
rs1336291242
|
|
NM_001851.6(COL9A1):c.2630G>A (p.Arg877Gln)
|
rs1408064118
|
|
NM_001851.6(COL9A1):c.2636C>A (p.Pro879His)
|
|
|
NM_001851.6(COL9A1):c.2637C>T (p.Pro879=)
|
|
|
NM_001851.6(COL9A1):c.264G>A (p.Lys88=)
|
|
|
NM_001851.6(COL9A1):c.2655T>G (p.Ile885Met)
|
rs2127544055
|
|
NM_001851.6(COL9A1):c.2671C>T (p.Pro891Ser)
|
rs763970167
|
|
NM_001851.6(COL9A1):c.2684C>G (p.Pro895Arg)
|
|
|
NM_001851.6(COL9A1):c.2684C>T (p.Pro895Leu)
|
rs758916884
|
|
NM_001851.6(COL9A1):c.2695G>A (p.Gly899Ser)
|
|
|
NM_001851.6(COL9A1):c.269G>A (p.Gly90Glu)
|
rs2127608290
|
|
NM_001851.6(COL9A1):c.2702G>A (p.Cys901Tyr)
|
|
|
NM_001851.6(COL9A1):c.2724G>A (p.Met908Ile)
|
|
|
NM_001851.6(COL9A1):c.2739A>G (p.Arg913=)
|
rs2127543940
|
|
NM_001851.6(COL9A1):c.2751A>G (p.Lys917=)
|
|
|
NM_001851.6(COL9A1):c.2760C>T (p.Asp920=)
|
|
|
NM_001851.6(COL9A1):c.2761C>T (p.Pro921Ser)
|
rs374561398
|
|
NM_001851.6(COL9A1):c.286A>G (p.Arg96Gly)
|
rs375022897
|
|
NM_001851.6(COL9A1):c.298A>G (p.Arg100Gly)
|
|
|
NM_001851.6(COL9A1):c.299+12A>G
|
|
|
NM_001851.6(COL9A1):c.299+14_299+15del
|
rs1773999575
|
|
NM_001851.6(COL9A1):c.299+16T>C
|
rs917863075
|
|
NM_001851.6(COL9A1):c.299+18T>G
|
rs1230656104
|
|
NM_001851.6(COL9A1):c.299+8A>G
|
|
|
NM_001851.6(COL9A1):c.300-15A>G
|
rs578099147
|
|
NM_001851.6(COL9A1):c.300-19_300-4del
|
rs1773783129
|
|
NM_001851.6(COL9A1):c.300-4T>A
|
|
|
NM_001851.6(COL9A1):c.300-67del
|
rs3840415
|
|
NM_001851.6(COL9A1):c.300-6A>G
|
|
|
NM_001851.6(COL9A1):c.309T>A (p.Tyr103Ter)
|
rs372763803
|
|
NM_001851.6(COL9A1):c.316G>C (p.Gly106Arg)
|
|
|
NM_001851.6(COL9A1):c.335C>T (p.Ser112Phe)
|
|
|
NM_001851.6(COL9A1):c.345G>A (p.Thr115=)
|
|
|
NM_001851.6(COL9A1):c.348G>A (p.Thr116=)
|
rs779960146
|
|
NM_001851.6(COL9A1):c.348G>T (p.Thr116=)
|
rs779960146
|
|
NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter)
|
rs147237457
|
|
NM_001851.6(COL9A1):c.353_357dup (p.Thr120delinsGluTer)
|
|
|
NM_001851.6(COL9A1):c.355A>T (p.Met119Leu)
|
|
|
NM_001851.6(COL9A1):c.360T>C (p.Thr120=)
|
|
|
NM_001851.6(COL9A1):c.36T>A (p.Phe12Leu)
|
|
|
NM_001851.6(COL9A1):c.372C>G (p.Leu124=)
|
|
|
NM_001851.6(COL9A1):c.372C>T (p.Leu124=)
|
|
|
NM_001851.6(COL9A1):c.380A>G (p.Asn127Ser)
|
rs763327020
|
|
NM_001851.6(COL9A1):c.381C>A (p.Asn127Lys)
|
rs373482218
|
|
NM_001851.6(COL9A1):c.382T>G (p.Trp128Gly)
|
|
|
NM_001851.6(COL9A1):c.384del (p.Asn127_Trp128insTer)
|
|
|
NM_001851.6(COL9A1):c.38T>G (p.Val13Gly)
|
|
|
NM_001851.6(COL9A1):c.397A>T (p.Ile133Phe)
|
|
|
NM_001851.6(COL9A1):c.403del (p.Asp135fs)
|
rs2127605169
|
|
NM_001851.6(COL9A1):c.404A>C (p.Asp135Ala)
|
rs1202257253
|
|
NM_001851.6(COL9A1):c.415A>T (p.Lys139Ter)
|
|
|
NM_001851.6(COL9A1):c.420G>A (p.Glu140=)
|
rs748783496
|
|
NM_001851.6(COL9A1):c.420G>C (p.Glu140Asp)
|
|
|
NM_001851.6(COL9A1):c.423A>G (p.Gln141=)
|
|
|
NM_001851.6(COL9A1):c.425T>C (p.Val142Ala)
|
rs1773775158
|
|
NM_001851.6(COL9A1):c.426T>G (p.Val142=)
|
|
|
NM_001851.6(COL9A1):c.437T>C (p.Ile146Thr)
|
|
|
NM_001851.6(COL9A1):c.459T>G (p.Val153=)
|
|
|
NM_001851.6(COL9A1):c.45T>C (p.Ser15=)
|
|
|
NM_001851.6(COL9A1):c.462A>T (p.Val154=)
|
rs150571620
|
|
NM_001851.6(COL9A1):c.468A>G (p.Ser156=)
|
|
|
NM_001851.6(COL9A1):c.468A>T (p.Ser156=)
|
|
|
NM_001851.6(COL9A1):c.494A>C (p.Gln165Pro)
|
rs772666114
|
|
NM_001851.6(COL9A1):c.503C>T (p.Ala168Val)
|
rs199822035
|
|
NM_001851.6(COL9A1):c.522C>G (p.Ser174=)
|
|
|
NM_001851.6(COL9A1):c.534C>T (p.Ser178=)
|
|
|
NM_001851.6(COL9A1):c.550A>G (p.Met184Val)
|
|
|
NM_001851.6(COL9A1):c.552G>A (p.Met184Ile)
|
rs751324421
|
|
NM_001851.6(COL9A1):c.554T>C (p.Ile185Thr)
|
|
|
NM_001851.6(COL9A1):c.559G>A (p.Val187Met)
|
rs773143381
|
|
NM_001851.6(COL9A1):c.560T>G (p.Val187Gly)
|
rs2127605012
|
|
NM_001851.6(COL9A1):c.567G>A (p.Arg189=)
|
|
|
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu)
|
rs146700420
|
|
NM_001851.6(COL9A1):c.575C>T (p.Ala192Val)
|
rs2127604996
|
|
NM_001851.6(COL9A1):c.57C>G (p.Pro19=)
|
rs2127609488
|
|
NM_001851.6(COL9A1):c.580C>A (p.Leu194Ile)
|
rs2127604991
|
|
NM_001851.6(COL9A1):c.583T>C (p.Phe195Leu)
|
|
|
NM_001851.6(COL9A1):c.585T>C (p.Phe195=)
|
|
|
NM_001851.6(COL9A1):c.586G>A (p.Val196Ile)
|
|
|
NM_001851.6(COL9A1):c.588T>C (p.Val196=)
|
|
|
NM_001851.6(COL9A1):c.594C>T (p.Cys198=)
|
rs367745745
|
|
NM_001851.6(COL9A1):c.597C>T (p.Asn199=)
|
|
|
NM_001851.6(COL9A1):c.59G>A (p.Trp20Ter)
|
rs2127609482
|
|
NM_001851.6(COL9A1):c.5_7del (p.Lys2del)
|
rs1389297007
|
|
NM_001851.6(COL9A1):c.601A>T (p.Ile201Phe)
|
|
|
NM_001851.6(COL9A1):c.601del (p.Ile201fs)
|
|
|
NM_001851.6(COL9A1):c.602T>C (p.Ile201Thr)
|
|
|
NM_001851.6(COL9A1):c.604G>T (p.Glu202Ter)
|
|
|
NM_001851.6(COL9A1):c.609T>C (p.Ser203=)
|
rs2127604951
|
|
NM_001851.6(COL9A1):c.609T>G (p.Ser203=)
|
rs2127604951
|
|
NM_001851.6(COL9A1):c.611T>G (p.Leu204Ter)
|
|
|
NM_001851.6(COL9A1):c.630C>G (p.Gly210=)
|
rs2127604931
|
|
NM_001851.6(COL9A1):c.634A>G (p.Ile212Val)
|
|
|
NM_001851.6(COL9A1):c.642T>C (p.Ile214=)
|
|
|
NM_001851.6(COL9A1):c.643G>A (p.Asp215Asn)
|
|
|
NM_001851.6(COL9A1):c.647G>A (p.Gly216Asp)
|
|
|
NM_001851.6(COL9A1):c.648C>A (p.Gly216=)
|
rs2127604913
|
|
NM_001851.6(COL9A1):c.64T>C (p.Ser22Pro)
|
rs765061853
|
|
NM_001851.6(COL9A1):c.654T>A (p.Ala218=)
|
|
|
NM_001851.6(COL9A1):c.657G>T (p.Val219=)
|
|
|
NM_001851.6(COL9A1):c.658C>T (p.Leu220=)
|
|
|
NM_001851.6(COL9A1):c.670G>A (p.Ala224Thr)
|
rs2127604892
|
|
NM_001851.6(COL9A1):c.678T>C (p.Asn226=)
|
rs1773759215
|
|
NM_001851.6(COL9A1):c.688T>C (p.Ser230Pro)
|
|
|
NM_001851.6(COL9A1):c.695C>T (p.Pro232Leu)
|
|
|
NM_001851.6(COL9A1):c.696+16C>T
|
|
|
NM_001851.6(COL9A1):c.696+19A>G
|
rs1773757430
|
|
NM_001851.6(COL9A1):c.697-12A>G
|
rs1773327380
|
|
NM_001851.6(COL9A1):c.697-15A>G
|
|
|
NM_001851.6(COL9A1):c.697-16T>C
|
rs2127599962
|
|
NM_001851.6(COL9A1):c.697-17C>G
|
|
|
NM_001851.6(COL9A1):c.699T>G (p.Phe233Leu)
|
|
|
NM_001851.6(COL9A1):c.706C>T (p.Gln236Ter)
|
|
|
NM_001851.6(COL9A1):c.708A>G (p.Gln236=)
|
|
|
NM_001851.6(COL9A1):c.710G>A (p.Trp237Ter)
|
|
|
NM_001851.6(COL9A1):c.717_781-267del
|
|
|
NM_001851.6(COL9A1):c.722A>T (p.His241Leu)
|
rs1157440130
|
|
NM_001851.6(COL9A1):c.723T>C (p.His241=)
|
|
|
NM_001851.6(COL9A1):c.725G>A (p.Cys242Tyr)
|
|
|
NM_001851.6(COL9A1):c.726T>C (p.Cys242=)
|
|
|
NM_001851.6(COL9A1):c.729C>T (p.Asp243=)
|
rs2127599903
|
|
NM_001851.6(COL9A1):c.733del (p.Leu245fs)
|
|
|
NM_001851.6(COL9A1):c.736C>A (p.Arg246=)
|
|
|
NM_001851.6(COL9A1):c.736C>T (p.Arg246Trp)
|
rs138557524
|
|
NM_001851.6(COL9A1):c.737G>A (p.Arg246Gln)
|
|
|
NM_001851.6(COL9A1):c.738G>T (p.Arg246=)
|
|
|
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu)
|
rs767995228
|
|
NM_001851.6(COL9A1):c.746G>C (p.Arg249Thr)
|
|
|
NM_001851.6(COL9A1):c.753T>C (p.Thr251=)
|
rs1773321456
|
|
NM_001851.6(COL9A1):c.757C>A (p.His253Asn)
|
|
|
NM_001851.6(COL9A1):c.758A>G (p.His253Arg)
|
rs747074497
|
|
NM_001851.6(COL9A1):c.768A>G (p.Pro256=)
|
|
|
NM_001851.6(COL9A1):c.771dup (p.Arg258fs)
|
|
|
NM_001851.6(COL9A1):c.773G>T (p.Arg258Ile)
|
|
|
NM_001851.6(COL9A1):c.77A>G (p.Lys26Arg)
|
rs1774083146
|
|
NM_001851.6(COL9A1):c.780+18C>T
|
|
|
NM_001851.6(COL9A1):c.780+9C>G
|
rs763935873
|
|
NM_001851.6(COL9A1):c.781-13T>G
|
|
|
NM_001851.6(COL9A1):c.781-16A>G
|
|
|
NM_001851.6(COL9A1):c.781-1G>C
|
|
|
NM_001851.6(COL9A1):c.781-6C>T
|
rs2127599096
|
|
NM_001851.6(COL9A1):c.781-9C>A
|
|
|
NM_001851.6(COL9A1):c.781C>T (p.Pro261Ser)
|
|
|
NM_001851.6(COL9A1):c.783del (p.Ser262fs)
|
|
|
NM_001851.6(COL9A1):c.78G>A (p.Lys26=)
|
rs540615626
|
|
NM_001851.6(COL9A1):c.793A>G (p.Thr265Ala)
|
rs1773262366
|
|
NM_001851.6(COL9A1):c.795C>A (p.Thr265=)
|
|
|
NM_001851.6(COL9A1):c.798C>T (p.Asp266=)
|
rs2127599082
|
|
NM_001851.6(COL9A1):c.799G>T (p.Glu267Ter)
|
rs1034243338
|
|
NM_001851.6(COL9A1):c.79C>T (p.Arg27Cys)
|
rs746534856
|
|
NM_001851.6(COL9A1):c.7A>T (p.Thr3Ser)
|
|
|
NM_001851.6(COL9A1):c.801+11G>A
|
|
|
NM_001851.6(COL9A1):c.801+14A>T
|
|
|
NM_001851.6(COL9A1):c.801+9G>T
|
|
|
NM_001851.6(COL9A1):c.802-11A>G
|
|
|
NM_001851.6(COL9A1):c.802-16C>A
|
|
|
NM_001851.6(COL9A1):c.802-18G>C
|
|
|
NM_001851.6(COL9A1):c.802-19T>C
|
|
|
NM_001851.6(COL9A1):c.802-20A>T
|
|
|
NM_001851.6(COL9A1):c.802-4C>A
|
|
|
NM_001851.6(COL9A1):c.802-4C>T
|
rs370569186
|
|
NM_001851.6(COL9A1):c.802-8T>G
|
|
|
NM_001851.6(COL9A1):c.802A>T (p.Arg268Ter)
|
|
|
NM_001851.6(COL9A1):c.803G>A (p.Arg268Lys)
|
|
|
NM_001851.6(COL9A1):c.807T>C (p.Gly269=)
|
rs1773163154
|
|
NM_001851.6(COL9A1):c.810C>G (p.Pro270=)
|
|
|
NM_001851.6(COL9A1):c.812C>A (p.Pro271Gln)
|
|
|
NM_001851.6(COL9A1):c.816T>G (p.Gly272=)
|
|
|
NM_001851.6(COL9A1):c.818A>G (p.Glu273Gly)
|
|
|
NM_001851.6(COL9A1):c.819G>A (p.Glu273=)
|
|
|
NM_001851.6(COL9A1):c.819dup (p.Gln274fs)
|
|
|
NM_001851.6(COL9A1):c.823G>C (p.Gly275Arg)
|
|
|
NM_001851.6(COL9A1):c.828T>C (p.Pro276=)
|
|
|
NM_001851.6(COL9A1):c.82C>A (p.Arg28Ser)
|
|
|
NM_001851.6(COL9A1):c.82C>T (p.Arg28Cys)
|
rs745566207
|
|
NM_001851.6(COL9A1):c.831C>G (p.Pro277=)
|
|
|
NM_001851.6(COL9A1):c.831C>T (p.Pro277=)
|
|
|
NM_001851.6(COL9A1):c.832G>T (p.Gly278Trp)
|
rs1224223702
|
|
NM_001851.6(COL9A1):c.835C>A (p.Pro279Thr)
|
|
|
NM_001851.6(COL9A1):c.837T>A (p.Pro279=)
|
|
|
NM_001851.6(COL9A1):c.839C>T (p.Pro280Leu)
|
|
|
NM_001851.6(COL9A1):c.840G>A (p.Pro280=)
|
|
|
NM_001851.6(COL9A1):c.840G>C (p.Pro280=)
|
|
|
NM_001851.6(COL9A1):c.841G>A (p.Gly281Ser)
|
|
|
NM_001851.6(COL9A1):c.842G>A (p.Gly281Asp)
|
|
|
NM_001851.6(COL9A1):c.842G>C (p.Gly281Ala)
|
|
|
NM_001851.6(COL9A1):c.843C>T (p.Gly281=)
|
rs756873013
|
|
NM_001851.6(COL9A1):c.847C>G (p.Pro283Ala)
|
rs1038310229
|
|
NM_001851.6(COL9A1):c.847_848del (p.Pro283fs)
|
|
|
NM_001851.6(COL9A1):c.848del (p.Pro283fs)
|
|
|
NM_001851.6(COL9A1):c.848dup (p.Gly284fs)
|
rs941174282
|
|
NM_001851.6(COL9A1):c.858A>G (p.Pro286=)
|
|
|
NM_001851.6(COL9A1):c.85C>A (p.Pro29Thr)
|
|
|
NM_001851.6(COL9A1):c.862A>G (p.Ile288Val)
|
|
|
NM_001851.6(COL9A1):c.865G>A (p.Asp289Asn)
|
|
|
NM_001851.6(COL9A1):c.865dup (p.Asp289fs)
|
|
|
NM_001851.6(COL9A1):c.867T>C (p.Asp289=)
|
|
|
NM_001851.6(COL9A1):c.867_875dup (p.Gly293_Asp294insIleAspGly)
|
|
|
NM_001851.6(COL9A1):c.870C>T (p.Gly290=)
|
rs2127597715
|
|
NM_001851.6(COL9A1):c.876+14_876+21del
|
|
|
NM_001851.6(COL9A1):c.876+20C>T
|
|
|
NM_001851.6(COL9A1):c.876+77_876+78dup
|
rs34962262
|
|
NM_001851.6(COL9A1):c.876+77dup
|
rs34962262
|
|
NM_001851.6(COL9A1):c.876+89del
|
rs34962262
|
|
NM_001851.6(COL9A1):c.876+8T>C
|
|
|
NM_001851.6(COL9A1):c.877-11T>C
|
|
|
NM_001851.6(COL9A1):c.877-1G>T
|
|
|
NM_001851.6(COL9A1):c.877-27CT[2]
|
rs1773129252
|
|
NM_001851.6(COL9A1):c.877-6C>T
|
|
|
NM_001851.6(COL9A1):c.877-8C>G
|
|
|
NM_001851.6(COL9A1):c.879T>G (p.Gly293=)
|
rs1038656483
|
|
NM_001851.6(COL9A1):c.88+13G>A
|
rs1774081356
|
|
NM_001851.6(COL9A1):c.88+14T>A
|
|
|
NM_001851.6(COL9A1):c.89-11C>T
|
|
|
NM_001851.6(COL9A1):c.89-13A>C
|
|
|
NM_001851.6(COL9A1):c.89-15C>T
|
|
|
NM_001851.6(COL9A1):c.89-18A>G
|
|
|
NM_001851.6(COL9A1):c.89-91ATT[7]
|
rs959164999
|
|
NM_001851.6(COL9A1):c.900C>T (p.Pro300=)
|
|
|
NM_001851.6(COL9A1):c.902dup (p.Pro306fs)
|
rs771382737
|
|
NM_001851.6(COL9A1):c.905G>A (p.Gly302Asp)
|
|
|
NM_001851.6(COL9A1):c.905G>C (p.Gly302Ala)
|
|
|
NM_001851.6(COL9A1):c.907C>G (p.Pro303Ala)
|
rs759319053
|
|
NM_001851.6(COL9A1):c.909C>G (p.Pro303=)
|
|
|
NM_001851.6(COL9A1):c.912+16C>T
|
|
|
NM_001851.6(COL9A1):c.912+19A>C
|
|
|
NM_001851.6(COL9A1):c.912+20T>C
|
|
|
NM_001851.6(COL9A1):c.912+8G>T
|
rs1773122137
|
|
NM_001851.6(COL9A1):c.913-15T>A
|
|
|
NM_001851.6(COL9A1):c.913-17C>T
|
|
|
NM_001851.6(COL9A1):c.913-20A>G
|
|
|
NM_001851.6(COL9A1):c.913-2A>C
|
|
|
NM_001851.6(COL9A1):c.913-31_913-16del
|
|
|
NM_001851.6(COL9A1):c.913-4T>C
|
|
|
NM_001851.6(COL9A1):c.913-9C>G
|
|
|
NM_001851.6(COL9A1):c.914G>A (p.Gly305Asp)
|
rs1335396298
|
|
NM_001851.6(COL9A1):c.921A>C (p.Ala307=)
|
|
|
NM_001851.6(COL9A1):c.924del (p.Glu309fs)
|
|
|
NM_001851.6(COL9A1):c.925G>C (p.Glu309Gln)
|
|
|
NM_001851.6(COL9A1):c.929C>T (p.Pro310Leu)
|
rs1159414513
|
|
NM_001851.6(COL9A1):c.936G>A (p.Lys312=)
|
|
|
NM_001851.6(COL9A1):c.943G>A (p.Ala315Thr)
|
rs369114509
|
|
NM_001851.6(COL9A1):c.948A>G (p.Pro316=)
|
|
|
NM_001851.6(COL9A1):c.953_961del (p.Lys318_Gly320del)
|
rs755136585
|
|
NM_001851.6(COL9A1):c.959G>A (p.Gly320Asp)
|
rs187291813
|
|
NM_001851.6(COL9A1):c.966T>C (p.Pro322=)
|
|
|
NM_001851.6(COL9A1):c.969C>A (p.Gly323=)
|
rs369670041
|
|
NM_001851.6(COL9A1):c.969C>T (p.Gly323=)
|
rs369670041
|
|
NM_001851.6(COL9A1):c.970G>A (p.Ala324Thr)
|
|
|
NM_001851.6(COL9A1):c.970G>T (p.Ala324Ser)
|
rs1286307073
|
|
NM_001851.6(COL9A1):c.975+11G>A
|
rs2127597140
|
|
NM_001851.6(COL9A1):c.975+12A>C
|
rs2127597139
|
|
NM_001851.6(COL9A1):c.975+16C>T
|
|
|
NM_001851.6(COL9A1):c.975+18G>C
|
|
|
NM_001851.6(COL9A1):c.975+20G>A
|
|
|
NM_001851.6(COL9A1):c.975+72dup
|
rs67240674
|
|
NM_001851.6(COL9A1):c.975+8G>A
|
rs2127597148
|
|
NM_001851.6(COL9A1):c.976-16T>C
|
|
|
NM_001851.6(COL9A1):c.976-20T>C
|
|
|
NM_001851.6(COL9A1):c.976-3T>G
|
rs2127592930
|
|
NM_001851.6(COL9A1):c.976-9C>T
|
|
|
NM_001851.6(COL9A1):c.984A>G (p.Thr328=)
|
|
|
NM_001851.6(COL9A1):c.994G>A (p.Gly332Arg)
|
|
|
NM_001851.6(COL9A1):c.998C>A (p.Ser333Tyr)
|
|
|
NM_001851.6(COL9A1):c.99C>G (p.Val33=)
|
rs1487489675
|
|
NM_001851.6(COL9A1):c.9C>T (p.Thr3=)
|
|
|
NM_001851.6(COL9A1):c.9dup (p.Cys4fs)
|
rs1404756199
|
|