NM_001844.5(COL2A1):c.-119C>T
|
rs3803182
|
0.79564
|
NM_001844.5(COL2A1):c.654+15T>G
|
rs1034762
|
0.79333
|
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser)
|
rs3803183
|
0.75794
|
NM_004273.5(CHST3):c.*3932G>T
|
rs1871451
|
0.66877
|
NM_004273.5(CHST3):c.*763C>A
|
rs4148941
|
0.66871
|
NM_004273.5(CHST3):c.*2422T>C
|
rs4148949
|
0.65038
|
NM_004273.5(CHST3):c.*4432T>A
|
rs1871452
|
0.65004
|
NM_004273.5(CHST3):c.*1844C>T
|
rs4148946
|
0.63737
|
NM_004273.5(CHST3):c.-294C>G
|
rs4148907
|
0.61843
|
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=)
|
rs1635553
|
0.45566
|
NM_004273.5(CHST3):c.*4533C>T
|
rs730720
|
0.44450
|
NM_004273.5(CHST3):c.*4107T>C
|
rs731027
|
0.44435
|
NM_004273.5(CHST3):c.*1278C>T
|
rs4148943
|
0.44347
|
NM_004273.5(CHST3):c.*3785G>A
|
rs1871450
|
0.39651
|
NM_004273.5(CHST3):c.*3477G>A
|
rs4148950
|
0.39647
|
NM_004273.5(CHST3):c.*4785G>A
|
rs12418
|
0.39638
|
NM_004273.5(CHST3):c.*1888T>C
|
rs4148947
|
0.39562
|
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=)
|
rs2276454
|
0.37692
|
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln)
|
rs3740129
|
0.36709
|
NM_004273.5(CHST3):c.*1361C>T
|
rs4148945
|
0.34681
|
NM_001844.5(COL2A1):c.762+15G>A
|
rs10875716
|
0.25696
|
NM_001844.5(COL2A1):c.1366-11C>T
|
rs10875714
|
0.20215
|
NM_001844.5(COL2A1):c.504C>A (p.Gly168=)
|
rs3737548
|
0.20086
|
NM_004273.5(CHST3):c.*3053C>T
|
rs12172746
|
0.19352
|
NM_004273.5(CHST3):c.*3987G>A
|
rs56218110
|
0.19306
|
NM_004273.5(CHST3):c.*1314G>A
|
rs4148944
|
0.16928
|
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser)
|
rs2070739
|
0.09896
|
NM_004273.5(CHST3):c.*1899G>A
|
rs17297481
|
0.08826
|
NM_001844.5(COL2A1):c.*136C>T
|
rs41272777
|
0.05859
|
NM_001844.5(COL2A1):c.4075-14C>G
|
rs12721425
|
0.05398
|
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile)
|
rs12721427
|
0.05396
|
NM_001844.5(COL2A1):c.2094+7A>G
|
rs17801742
|
0.05167
|
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=)
|
rs41317939
|
0.05124
|
NM_004273.5(CHST3):c.*3555G>A
|
rs4148951
|
0.04774
|
NM_004273.5(CHST3):c.*3039C>T
|
rs74145519
|
0.04770
|
NM_001844.5(COL2A1):c.2094+12G>C
|
rs17122510
|
0.04673
|
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=)
|
rs17122498
|
0.04377
|
NM_004273.5(CHST3):c.*4770G>A
|
rs4148953
|
0.04304
|
NM_004273.5(CHST3):c.*1370G>A
|
rs60924680
|
0.03944
|
NM_004273.5(CHST3):c.*2026A>G
|
rs115545740
|
0.03755
|
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp)
|
rs34392760
|
0.03719
|
NM_004273.5(CHST3):c.*1006T>C
|
rs116018996
|
0.02989
|
NM_001844.5(COL2A1):c.2625+9C>T
|
rs41272027
|
0.02608
|
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=)
|
rs1793947
|
0.02436
|
NM_001844.5(COL2A1):c.*4C>T
|
rs41272773
|
0.02262
|
NM_004273.5(CHST3):c.-274G>T
|
rs146305825
|
0.02017
|
NM_001844.5(COL2A1):c.*295C>T
|
rs41272781
|
0.02009
|
NM_001844.5(COL2A1):c.610-7G>A
|
rs7967258
|
0.01915
|
NM_004273.5(CHST3):c.*1425C>T
|
rs80269486
|
0.01869
|
NM_004273.5(CHST3):c.*1101T>G
|
rs116999241
|
0.01828
|
NM_004273.5(CHST3):c.*1426T>C
|
rs76062174
|
0.01720
|
NM_004273.5(CHST3):c.*406G>A
|
rs80210009
|
0.01614
|
NM_004273.5(CHST3):c.*255C>T
|
rs114569872
|
0.01583
|
NM_001844.5(COL2A1):c.1266+7G>A
|
rs41317915
|
0.01359
|
NM_004273.5(CHST3):c.*483G>A
|
rs113283291
|
0.01271
|
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)
|
rs1793940
|
0.01213
|
NM_004273.5(CHST3):c.*3666G>A
|
rs113342172
|
0.01185
|
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)
|
rs41317925
|
0.01027
|
NM_004273.5(CHST3):c.*346C>T
|
rs76094341
|
0.00947
|
NM_004273.5(CHST3):c.*3306A>G
|
rs12250549
|
0.00836
|
NM_004273.5(CHST3):c.*2391C>T
|
rs116391584
|
0.00817
|
NM_004273.5(CHST3):c.*1823G>C
|
rs116289781
|
0.00816
|
NM_004273.5(CHST3):c.*2163A>G
|
rs114563668
|
0.00816
|
NM_004273.5(CHST3):c.*2826G>A
|
rs114457501
|
0.00816
|
NM_004273.5(CHST3):c.*3890C>T
|
rs79559408
|
0.00815
|
NM_004273.5(CHST3):c.*4095A>G
|
rs114800040
|
0.00815
|
NM_004273.5(CHST3):c.*203A>G
|
rs77359818
|
0.00814
|
NM_004273.5(CHST3):c.*274C>T
|
rs116508900
|
0.00804
|
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)
|
rs112469769
|
0.00730
|
NM_001844.5(COL2A1):c.708+8C>T
|
rs41317893
|
0.00720
|
NM_004273.5(CHST3):c.*4341C>A
|
rs12267478
|
0.00688
|
NM_004273.5(CHST3):c.*1009C>T
|
rs190763138
|
0.00583
|
NM_004273.5(CHST3):c.417C>T (p.Ala139=)
|
rs144287889
|
0.00564
|
NM_004273.5(CHST3):c.1347C>T (p.Arg449=)
|
rs200249458
|
0.00538
|
NM_001844.5(COL2A1):c.*305G>A
|
rs532700241
|
0.00516
|
NM_004273.5(CHST3):c.*523A>G
|
rs189173490
|
0.00516
|
NM_004273.5(CHST3):c.561G>C (p.Val187=)
|
rs147804585
|
0.00480
|
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=)
|
rs12721379
|
0.00478
|
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=)
|
rs1793948
|
0.00473
|
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)
|
rs150865922
|
0.00456
|
NM_004273.5(CHST3):c.1428C>T (p.Phe476=)
|
rs75845750
|
0.00421
|
NM_004273.5(CHST3):c.828C>T (p.Arg276=)
|
rs140547825
|
0.00397
|
NM_004273.5(CHST3):c.*2660C>T
|
rs143743853
|
0.00389
|
NM_004273.5(CHST3):c.*855A>C
|
rs181471425
|
0.00370
|
NM_004273.5(CHST3):c.*1130C>G
|
rs4148942
|
0.00369
|
NM_004273.5(CHST3):c.*856C>G
|
rs186004202
|
0.00369
|
NM_004273.5(CHST3):c.*290G>C
|
rs184330297
|
0.00296
|
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)
|
rs35504014
|
0.00278
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_004273.5(CHST3):c.*981A>T
|
rs573670057
|
0.00258
|
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)
|
rs41272041
|
0.00234
|
NM_004273.5(CHST3):c.*3445G>A
|
rs185581202
|
0.00203
|
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=)
|
rs41263851
|
0.00198
|
NM_004273.5(CHST3):c.*809C>T
|
rs145689465
|
0.00178
|
NM_001844.5(COL2A1):c.3003+9G>A
|
rs200403247
|
0.00159
|
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=)
|
rs35656892
|
0.00142
|
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=)
|
rs34613777
|
0.00138
|
NM_001844.5(COL2A1):c.85+10C>G
|
rs769941617
|
0.00128
|
NM_004273.5(CHST3):c.*7C>T
|
rs202242499
|
0.00123
|
NM_001844.5(COL2A1):c.709-8G>T
|
rs200757693
|
0.00105
|
NM_004273.5(CHST3):c.1197C>T (p.Asp399=)
|
rs184636110
|
0.00097
|
NM_004273.5(CHST3):c.*3571T>C
|
rs575592721
|
0.00094
|
NM_001844.5(COL2A1):c.2095-4G>A
|
rs111570218
|
0.00089
|
NM_001844.5(COL2A1):c.507C>T (p.Pro169=)
|
rs143851987
|
0.00086
|
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)
|
rs41263847
|
0.00073
|
NM_004273.5(CHST3):c.1251G>C (p.Thr417=)
|
rs140411224
|
0.00072
|
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)
|
rs145884117
|
0.00067
|
NM_004273.5(CHST3):c.*4450G>C
|
rs183731077
|
0.00066
|
NM_004273.5(CHST3):c.*469C>A
|
rs539699501
|
0.00066
|
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)
|
rs200993187
|
0.00062
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)
|
rs35012272
|
0.00058
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
NM_001844.5(COL2A1):c.1366-13C>A
|
rs200984998
|
0.00055
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
NM_004273.5(CHST3):c.-51G>A
|
rs202050418
|
0.00053
|
NM_001844.5(COL2A1):c.*28C>T
|
rs41272775
|
0.00051
|
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)
|
rs144885813
|
0.00048
|
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)
|
rs147569641
|
0.00046
|
NM_001844.5(COL2A1):c.4074+12G>T
|
rs201312340
|
0.00046
|
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)
|
rs137948104
|
0.00046
|
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)
|
rs533540496
|
0.00038
|
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys)
|
rs150466838
|
0.00038
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_004273.5(CHST3):c.*4049C>A
|
rs192320139
|
0.00035
|
NM_004273.5(CHST3):c.*4495G>A
|
rs730721
|
0.00035
|
NM_004273.5(CHST3):c.*4865C>T
|
rs140500823
|
0.00035
|
NM_001844.5(COL2A1):c.3327+3G>A
|
rs192229438
|
0.00031
|
NM_001844.5(COL2A1):c.2680-9C>T
|
rs369022247
|
0.00026
|
NM_004273.5(CHST3):c.*4162A>G
|
rs551591119
|
0.00025
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
NM_004273.5(CHST3):c.*1463G>T
|
rs529839491
|
0.00021
|
NM_004273.5(CHST3):c.*3022A>T
|
rs145507314
|
0.00021
|
NM_004273.5(CHST3):c.*4884C>G
|
rs886047185
|
0.00021
|
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)
|
rs142770543
|
0.00019
|
NM_004273.5(CHST3):c.*3565A>G
|
rs151095465
|
0.00019
|
NM_004273.5(CHST3):c.*4534G>A
|
rs372116465
|
0.00019
|
NM_001844.5(COL2A1):c.1023+3G>A
|
rs374570848
|
0.00016
|
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)
|
rs201646745
|
0.00016
|
NM_004273.5(CHST3):c.*1664G>C
|
rs375960396
|
0.00016
|
NM_004273.5(CHST3):c.*2843_*2844del
|
rs886047178
|
0.00016
|
NM_004273.5(CHST3):c.*3131G>A
|
rs577353046
|
0.00016
|
NM_004273.5(CHST3):c.*4869G>A
|
rs773240688
|
0.00016
|
NM_001844.5(COL2A1):c.*158C>A
|
rs867067070
|
0.00015
|
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)
|
rs140740708
|
0.00015
|
NM_001844.5(COL2A1):c.246C>T (p.Phe82=)
|
rs142161948
|
0.00014
|
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)
|
rs200214562
|
0.00014
|
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp)
|
rs369359592
|
0.00013
|
NM_004273.5(CHST3):c.570C>T (p.Asp190=)
|
rs367857089
|
0.00013
|
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)
|
rs201817670
|
0.00012
|
NM_004273.5(CHST3):c.*4498A>G
|
rs552578786
|
0.00010
|
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)
|
rs146046296
|
0.00009
|
NM_004273.5(CHST3):c.*4336A>G
|
rs569758444
|
0.00009
|
NM_004273.5(CHST3):c.*4409C>T
|
rs754282055
|
0.00009
|
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)
|
rs201719788
|
0.00007
|
NM_004273.5(CHST3):c.*1091G>T
|
rs886047167
|
0.00007
|
NM_004273.5(CHST3):c.-265C>G
|
rs371903365
|
0.00007
|
NM_001844.5(COL2A1):c.*373G>C
|
rs990523451
|
0.00006
|
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)
|
rs199726428
|
0.00006
|
NM_004273.5(CHST3):c.*1042C>G
|
rs886047165
|
0.00006
|
NM_004273.5(CHST3):c.*3857G>A
|
rs537395654
|
0.00006
|
NM_004273.5(CHST3):c.*887A>G
|
rs555113303
|
0.00006
|
NM_001844.5(COL2A1):c.1680+8G>T
|
rs754310324
|
0.00005
|
NM_001844.5(COL2A1):c.1680+9C>A
|
rs371857655
|
0.00005
|
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=)
|
rs141375467
|
0.00005
|
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)
|
rs148838496
|
0.00005
|
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)
|
rs376442872
|
0.00005
|
NM_004273.5(CHST3):c.*1621C>G
|
rs768478124
|
0.00005
|
NM_004273.5(CHST3):c.-131G>A
|
rs886047158
|
0.00005
|
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg)
|
rs777858428
|
0.00005
|
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
NM_004273.5(CHST3):c.*3905C>T
|
rs886047181
|
0.00004
|
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)
|
rs768110640
|
0.00003
|
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=)
|
rs745633496
|
0.00003
|
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)
|
rs760390497
|
0.00003
|
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)
|
rs2276459
|
0.00003
|
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)
|
rs778382364
|
0.00003
|
NM_001844.5(COL2A1):c.708+14C>T
|
rs769173275
|
0.00003
|
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)
|
rs376753701
|
0.00003
|
NM_004273.5(CHST3):c.*1698C>G
|
rs377338550
|
0.00003
|
NM_004273.5(CHST3):c.*3245G>A
|
rs545967470
|
0.00003
|
NM_004273.5(CHST3):c.*410C>T
|
rs886047160
|
0.00003
|
NM_004273.5(CHST3):c.*4821G>A
|
rs886047184
|
0.00003
|
NM_004273.5(CHST3):c.*812G>A
|
rs886047162
|
0.00003
|
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys)
|
rs368468468
|
0.00003
|
NM_001844.5(COL2A1):c.*331G>A
|
rs1227723645
|
0.00002
|
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)
|
rs748511528
|
0.00002
|
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)
|
rs756360655
|
0.00002
|
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)
|
rs537186508
|
0.00002
|
NM_004273.5(CHST3):c.*1053A>T
|
rs886047166
|
0.00002
|
NM_004273.5(CHST3):c.*4210T>C
|
rs559945769
|
0.00002
|
NM_001844.5(COL2A1):c.-15G>T
|
rs886049450
|
0.00001
|
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)
|
rs368641858
|
0.00001
|
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)
|
rs751436440
|
0.00001
|
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)
|
rs371835359
|
0.00001
|
NM_001844.5(COL2A1):c.2410-11C>T
|
rs886049447
|
0.00001
|
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
|
rs948633441
|
0.00001
|
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
|
rs371268468
|
0.00001
|
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala)
|
rs886049446
|
0.00001
|
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu)
|
rs374156023
|
0.00001
|
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)
|
rs202105427
|
0.00001
|
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp)
|
rs754466377
|
0.00001
|
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val)
|
rs928430270
|
0.00001
|
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)
|
rs764487245
|
0.00001
|
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)
|
rs1470645150
|
0.00001
|
NM_004273.5(CHST3):c.*1244G>T
|
rs886047168
|
0.00001
|
NM_004273.5(CHST3):c.*1256G>A
|
rs886047169
|
0.00001
|
NM_004273.5(CHST3):c.*1536G>A
|
rs376062544
|
0.00001
|
NM_004273.5(CHST3):c.*1960G>A
|
rs886047172
|
0.00001
|
NM_004273.5(CHST3):c.*2226A>G
|
rs886047175
|
0.00001
|
NM_004273.5(CHST3):c.*2592C>T
|
rs886047176
|
0.00001
|
NM_004273.5(CHST3):c.*4628A>C
|
rs886047182
|
0.00001
|
NM_004273.5(CHST3):c.*544C>T
|
rs886047161
|
0.00001
|
NM_004273.5(CHST3):c.*851T>C
|
rs886047163
|
0.00001
|
NM_004273.5(CHST3):c.543C>T (p.Ala181=)
|
rs778478785
|
0.00001
|
NM_001011658.4(TRAPPC2):c.*1303del
|
rs35590746
|
|
NM_001011658.4(TRAPPC2):c.*1848dup
|
rs200158505
|
|
NM_001011658.4(TRAPPC2):c.*2104TG[4]
|
rs199924403
|
|
NM_001011658.4(TRAPPC2):c.*263dup
|
rs1057515794
|
|
NM_001011658.4(TRAPPC2):c.*266_*267insT
|
rs1057515793
|
|
NM_001011658.4(TRAPPC2):c.*950_*956dup
|
rs57103709
|
|
NM_001011658.4(TRAPPC2):c.*956_*957insTTTTTTTT
|
rs57103709
|
|
NM_001011658.4(TRAPPC2):c.*956dup
|
rs57103709
|
|
NM_001011658.4(TRAPPC2):c.*957_*958insTTTTTTT
|
rs1057515790
|
|
NM_001844.5(COL2A1):c.*120C>G
|
rs886049443
|
|
NM_001844.5(COL2A1):c.*131C>T
|
rs886049442
|
|
NM_001844.5(COL2A1):c.*406A>G
|
rs886049441
|
|
NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu)
|
rs886049448
|
|
NM_001844.5(COL2A1):c.1077C>G (p.Val359=)
|
rs202002349
|
|
NM_001844.5(COL2A1):c.12C>T (p.Leu4=)
|
rs886049449
|
|
NM_001844.5(COL2A1):c.1528-2del
|
|
|
NM_001844.5(COL2A1):c.1995+5G>A
|
rs1449516565
|
|
NM_001844.5(COL2A1):c.2410-13T>G
|
rs574507277
|
|
NM_001844.5(COL2A1):c.2491G>T (p.Gly831Ter)
|
|
|
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile)
|
rs1938961773
|
|
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)
|
rs41272029
|
|
NM_001844.5(COL2A1):c.2814del (p.Gly939fs)
|
rs1555165494
|
|
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)
|
rs2136522964
|
|
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
|
rs1180226091
|
|
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr)
|
rs886049445
|
|
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys)
|
rs886049444
|
|
NM_001844.5(COL2A1):c.4317+9G>C
|
rs1938570357
|
|
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg)
|
rs958614345
|
|
NM_001844.5(COL2A1):c.532-3C>A
|
rs755887776
|
|
NM_001844.5(COL2A1):c.924+14A>C
|
rs1475810942
|
|
NM_004273.5(CHST3):c.*1088A>G
|
rs115617050
|
|
NM_004273.5(CHST3):c.*1088A>T
|
rs115617050
|
|
NM_004273.5(CHST3):c.*1090G>A
|
rs148125052
|
|
NM_004273.5(CHST3):c.*1184C>G
|
rs187692473
|
|
NM_004273.5(CHST3):c.*1185C>G
|
rs373515105
|
|
NM_004273.5(CHST3):c.*1399T>C
|
rs562405951
|
|
NM_004273.5(CHST3):c.*1404C>G
|
rs886047170
|
|
NM_004273.5(CHST3):c.*1447C>A
|
rs76808415
|
|
NM_004273.5(CHST3):c.*1584T>G
|
rs886047171
|
|
NM_004273.5(CHST3):c.*1978GT[4]
|
rs150678709
|
|
NM_004273.5(CHST3):c.*2126A>C
|
rs7072219
|
|
NM_004273.5(CHST3):c.*2178G>T
|
rs886047174
|
|
NM_004273.5(CHST3):c.*2349A>G
|
rs4148948
|
|
NM_004273.5(CHST3):c.*238G>A
|
rs543236876
|
|
NM_004273.5(CHST3):c.*2656A>G
|
rs886047177
|
|
NM_004273.5(CHST3):c.*2718G>A
|
rs115489836
|
|
NM_004273.5(CHST3):c.*3090T>A
|
rs76750860
|
|
NM_004273.5(CHST3):c.*3167G>A
|
rs886047179
|
|
NM_004273.5(CHST3):c.*3384G>A
|
rs886047180
|
|
NM_004273.5(CHST3):c.*3701AG[1]
|
rs200054447
|
|
NM_004273.5(CHST3):c.*3884A>G
|
rs77908871
|
|
NM_004273.5(CHST3):c.*4421G>C
|
rs730722
|
|
NM_004273.5(CHST3):c.*4609G>A
|
rs552018988
|
|
NM_004273.5(CHST3):c.*4820C>T
|
rs886047183
|
|
NM_004273.5(CHST3):c.*922C>T
|
rs886047164
|
|
NM_004273.5(CHST3):c.-108+6T>G
|
rs886047159
|
|
NM_004273.5(CHST3):c.-270del
|
rs538907004
|
|
NM_004273.5(CHST3):c.306C>T (p.Gly102=)
|
rs776007496
|
|
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly)
|
rs766145797
|
|
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln)
|
rs199515173
|
|
NM_004273.5(CHST3):c.886G>C (p.Val296Leu)
|
rs762224143
|
|